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Gene: Hba-x MGI:96019

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

hemoglobin X, alpha-like embryonic chain in Hba complex

Synonyms:

zeta globin

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hba-x mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Hba-x (0 diseases)
Human diseases predicted to be associated with Hba-x (467 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hba-x by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Anisocytosis, Anemia of inadequate production, Oval macrocytosis	OMIM:603529
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Anemia of inadequate production, Reticulocytosis, Poikilocytosis, Growth delay, Anisocyto...	OMIM:615631
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Congenital Amegakaryocytic Thrombocytopenia	Short stature, Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Anisocytosis, Hypochromic microcytic anemia	OMIM:206200
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Asplenia, Isolated Congenital	Howell-Jolly bodies, Thrombocytosis, Asplenia	OMIM:271400
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Intrauterine growth retardation, Anemia	ORPHA:2802
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Erythroid hypoplasia, Acute myeloid leukemia, Macrocytic anemia, Abnormal neutrophil morphology, ...	ORPHA:86841
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscu...	OMIM:616689
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Reticulocytosis, Abnormal mean corpuscular v...	ORPHA:3203
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, Reticulocytosis...	OMIM:224120
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase activity	OMIM:615909
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Elliptocytosis, Anisocytosis, T...	OMIM:300835
Diamond-Blackfan Anemia 18	Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia	OMIM:618310
Rh-Null, Amorph Type	Stomatocytosis, Anisocytosis, Hemolytic anemia, Reticulocytosis	OMIM:617970
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Growth delay, Splenomegal...	OMIM:615234
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul...	OMIM:613673
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased mean corpuscular volume, Poikilocytosis, Short stature, Anisocytosis, Abnormal ...	ORPHA:98870
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte adenylate kinase activity, Hemolytic anemia	OMIM:612631
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Anemia of inadequate production, Acanthocytosis, Congenital thrombocytopenia	OMIM:300367
Spherocytosis, Type 5	Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia, Abnormal...	OMIM:612690
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Reticulocytosis, Erythroid hyperplasia,...	OMIM:301083
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Hypochromia, Anisocytosis, Hepatosplenomegaly, Splenomegaly, Decreased mean corpuscular v...	OMIM:616860
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Short stature, Neutropenia	OMIM:612563
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia	OMIM:153550
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ...	OMIM:300908
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Thrombocytosis, Hepatosplenomegaly, Microcytic anemia, Pancytopenia	OMIM:604416
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short stature, Spherocytosis, Splenomegaly	ORPHA:66518
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia, Microspherocytosis	OMIM:266140
Diamond-Blackfan Anemia 9	Growth delay, Anemia	OMIM:613308
Rh Deficiency Syndrome	Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Anisocytosis, Hepatosplenomegaly,...	ORPHA:71275
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Orotic Aciduria	Hypochromia, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemia...	OMIM:258900
Nephronophthisis	Anemia	ORPHA:655
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Elliptocytosis 3	Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia, Decreased mean corpuscular volume	OMIM:617948
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Spherocytosis, Type 2	Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia, Menorrhagia	OMIM:616176
Spherocytosis, Type 3	Spherocytosis, Hemolytic anemia	OMIM:270970
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Familial Pseudohyperkalemia	Increased mean corpuscular volume, Stomatocytosis, Reticulocytosis, Episodic hemolytic anemia	ORPHA:90044
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Spastic Paraplegia And Evans Syndrome	Autoimmune thrombocytopenia, Coombs-positive hemolytic anemia	OMIM:601608
Spherocytosis, Type 4	Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612653
Congenital Atransferrinemia	Anemia	ORPHA:1195
Immunodeficiency 27A	Anemia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytosis, Histiocytosis	OMIM:209950
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Primary Myelofibrosis	Anemia, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis, Hepatosplenomeg...	ORPHA:824
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Erythroleukemia, Familial, Susceptibility To	Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia	OMIM:133180
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, E...	OMIM:601775
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,...	OMIM:301310
Hereditary Elliptocytosis	Postnatal growth retardation, Reticulocytosis, Poikilocytosis, Elliptocytosis, Splenomegaly, Stom...	ORPHA:288
Spherocytosis, Type 1	Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:182900
Essential Thrombocythemia	Acute leukemia, Leukocytosis, Abnormality of thrombocytes, Abnormal platelet morphology, Splenome...	ORPHA:3318
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils, Short stature	ORPHA:2760
Fetal Parvovirus Syndrome	Intrauterine growth retardation, Thrombocytopenia, Anemia	ORPHA:295
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,...	ORPHA:846
Sickle Cell Anemia	Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis...	ORPHA:232
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Postnatal growth retardation, Anemia, Severe short stature	OMIM:618728
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Fanconi Anemia, Complementation Group G	Anemia, Growth delay, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia	OMIM:268150
Elliptocytosis 1	Elliptocytosis, Splenomegaly, Hemolytic anemia	OMIM:611804
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Anemia, Azoospermia, Reticulocytopenia, Growth delay, Dysplastic erythropoes...	ORPHA:300298
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Hemolytic Anemia With Thermal Sensitivity Of Red Cells	Congenital hemolytic anemia	OMIM:235370
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain	Compensated hemolytic anemia	OMIM:142309
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration	Acanthocytosis	OMIM:607236
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Ziegler-Huang Syndrome	Macrocytic anemia, Persistence of hemoglobin F, Growth delay, Hypogonadism, Intrauterine growth r...	OMIM:620501
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Megaloblastic anemia	OMIM:243320
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Heme Oxygenase 1 Deficiency	Asplenia, Growth delay, Coombs-positive hemolytic anemia, Thrombocytosis, Hemolytic anemia	OMIM:614034
Beta-Thalassemia	Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypogonadism, Micro...	ORPHA:848
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia	OMIM:618849
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Thrombocytopenia, Monocytosis, Anemia, Neutropenia	OMIM:620534
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Overhydrated Hereditary Stomatocytosis	Increased mean corpuscular volume, Reticulocytosis, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:185000
Bone Marrow Failure Syndrome 2	Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Trimethylaminuria	Anemia, Splenomegaly, Neutropenia	OMIM:602079
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Anemia of inadequate production, Splenomegaly, Reticulocytosis	OMIM:237800
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly	OMIM:608898
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosis	OMIM:230450
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Hb Bart'S Hydrops Fetalis	Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Growth delay, Thrombocytosis, Anemia, Iron deficiency anemia	OMIM:226300
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:206100
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq...	ORPHA:98826
Acute Erythroid Leukemia	Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia	ORPHA:318
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Polycythemia, Methemoglobinemia	OMIM:250800
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Growth delay, Thrombocytopenia, Lymphopenia	ORPHA:169079
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly...	OMIM:210250
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Reduced erythrocyte glutathione reductase activity	OMIM:618660
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Dominant Beta-Thalassemia	Delayed puberty, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentrati...	ORPHA:231226
Stormorken-Sjaastad-Langslet Syndrome	Short stature, Abnormality of thrombocytes, Anemia, Asplenia	ORPHA:3204
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Growth delay, Short stature, Neutropenia	OMIM:612527
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Growth delay	OMIM:612561
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia	OMIM:615285
Hereditary Spherocytosis	Anemia, Spontaneous hemolytic crises, Increased mean corpuscular hemoglobin concentration, Sphero...	ORPHA:822
Malaria	Thrombocytopenia, Anemia	ORPHA:673
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia	OMIM:616435
Anemia, Sideroblastic, 1	Sideroblastic anemia, Anemia of inadequate production, Hypochromic microcytic anemia, Macrocytic ...	OMIM:300751
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Disproportionate short stature...	OMIM:301110
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thrombocytopenia, Intrauterine g...	OMIM:617021
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Short stature, Thrombocytopenia, Splenome...	OMIM:607616
Bone Marrow Failure Syndrome 4	Anemia, Rhizomelia, Short stature, Thrombocytopenia, Leukopenia	OMIM:618116
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	OMIM:613839
Celiac Disease, Susceptibility To, 1	Delayed puberty, Postnatal growth retardation, Iron deficiency anemia, Macrocytic anemia, Inferti...	OMIM:212750
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Sickle Cell Disease	Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Priapism, Increased red cell sickli...	OMIM:603903
Trichothiodystrophy 6, Nonphotosensitive	Short stature, Mild intrauterine growth retardation, Increased HbA2 hemoglobin, Decreased mean co...	OMIM:616943
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic dyserythropoietic anemia, Macrocytic anemia	OMIM:619789
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind...	OMIM:619130
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Menorrhagia, Autoimmune thrombocytopenia, Thrombocytosis, Abnormal er...	ORPHA:324636
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Elliptocytosis, Anisocyt...	OMIM:618278
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Developmental And Epileptic Encephalopathy 50	Anisopoikilocytosis, Anemia, Acanthocytosis, Schistocytosis	OMIM:616457
Glutamate Formiminotransferase Deficiency	Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei	OMIM:229100
Intermediate Generalized Junctional Epidermolysis Bullosa	Growth delay, Anemia	ORPHA:79402
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Atransferrinemia	Hypochromic anemia	OMIM:209300
Formiminoglutamic Aciduria	Megaloblastic anemia, Anemia	ORPHA:51208
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Splenomegaly, Reticulocytosis	OMIM:224100
Fanconi Anemia, Complementation Group V	Short stature, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Sting-Associated Vasculopathy, Infantile-Onset	Thrombocytosis, Leukopenia, Anemia, Lymphopenia	OMIM:615934
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Thrombotic Thrombocytopenic Purpura, Hereditary	Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis	OMIM:274150
Immunodeficiency 92	Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt...	OMIM:619652
Bone Marrow Failure Syndrome 5	Anemia, Erythroid hypoplasia, Short stature, Pure red cell aplasia, Growth delay, Hypogonadism, T...	OMIM:618165
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Majeed Syndrome	Delayed puberty, Anemia of inadequate production, Growth delay, Hepatosplenomegaly, Decreased mea...	OMIM:609628
Nephronophthisis 9	Postnatal growth retardation, Anemia	OMIM:613824
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells, Growth delay	OMIM:619774
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:620481
Orthostatic Hypotension 2	Anemia	OMIM:618182
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Growth delay, Sideroblastic anemia, Splenomegal...	OMIM:616084
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Anemia	ORPHA:2598
Alpha-Heavy Chain Disease	Growth delay, Anemia, Splenomegaly	ORPHA:100025
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Thrombocytopenia, Schistocytosis, Reticulocytosis	OMIM:235400
Diamond-Blackfan Anemia 12	Reticulocytopenia, Elevated red cell adenosine deaminase activity, Normochromic anemia, Macrocyti...	OMIM:615550
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt...	OMIM:243150
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Chylomicron Retention Disease	Growth delay, Acanthocytosis	ORPHA:71
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Hydatidiform Mole	Menometrorrhagia, Anemia	ORPHA:99927
Amme Complex	Intrauterine growth retardation, Elliptocytosis	OMIM:300194
Hemochromatosis, Type 2B	Secondary amenorrhea, Anemia, Splenomegaly, Hypogonadism	OMIM:613313
Rosaï-Dorfman Disease	Anemia	ORPHA:158014
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Hemochromatosis, Type 3	Anemia, Impotence, Lymphopenia, Amenorrhea, Hypogonadotropic hypogonadism, Neutropenia	OMIM:604250
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Beta-Thalassemia Major	Anisopoikilocytosis, Delayed puberty, Hypochromic microcytic anemia, Decreased mean corpuscular h...	ORPHA:231214
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Short stature, Leukopenia	OMIM:612528
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Macrocytic anemia, Pancytopenia, Increased mean corpuscular volume,...	ORPHA:2169
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
8P11.2 Deletion Syndrome	Azoospermia, Spherocytosis, Short stature, Growth delay, Splenomegaly, Hypogonadism, Hypogonadotr...	ORPHA:251066
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Oslam Syndrome	Anemia	OMIM:165660
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Short stature, Growth delay, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:608885
Cogan Syndrome	Thrombocytosis, Anemia, Leukocytosis	ORPHA:1467
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Refractory anemia, Monocytosis, Leukopenia, Acute myeloid leukemia	OMIM:616871
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit	OMIM:609820
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Short stature, Thrombocytopenia, Leukopenia	OMIM:619151
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Thrombocytopenia, Splenomegaly	OMIM:620367
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Anemia, Splenomegaly	OMIM:615085
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Short stature, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Familial Benign Copper Deficiency	Short stature, Anemia	ORPHA:1551
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Osteopetrosis, Autosomal Recessive 4	Anemia, Reticulocytosis, Growth delay, Thrombocytopenia, Splenomegaly	OMIM:611490
Hereditary Cryohydrocytosis With Reduced Stomatin	Postnatal growth retardation, Spontaneous hemolytic crises, Short stature, Hepatosplenomegaly, St...	ORPHA:168577
Mu-Heavy Chain Disease	Anemia, Splenomegaly, Abnormal B cell count	ORPHA:100024
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia	ORPHA:28
Hemangioma-Thrombocytopenia Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Maternal Uniparental Disomy Of Chromosome 4	Short stature, Postnatal growth retardation, Abnormal erythrocyte morphology, Acanthocytosis	ORPHA:96180
Erythrocytosis, Familial, 7	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617981
Erythrocytosis, Familial, 6	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617980
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Anemia, Severe short stature	OMIM:615789
Interstitial Lung And Liver Disease	Thrombocytosis, Anemia	OMIM:615486
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Anemia, Intrauterine growth retardation, Neutropenia	OMIM:617056
Mitochondrial Complex I Deficiency, Nuclear Type 39	Intrauterine growth retardation, Anemia	OMIM:620135
Poems Syndrome	Erectile dysfunction, Polycythemia, Splenomegaly, Hypogonadism, Thrombocytosis	ORPHA:2905
Erythrocytosis, Familial, 5	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:617907
Polycythemia Vera	Acute leukemia, Leukocytosis, Polycythemia, Splenomegaly, Thrombocytosis	ORPHA:729
Mcleod Syndrome	Acanthocytosis, Splenomegaly	OMIM:300842
Potocki-Shaffer Syndrome	Delayed puberty, Anemia	ORPHA:52022
Erythrocytosis, Familial, 4	Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit	OMIM:611783
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Short stature, Persistence of hemoglobin F	OMIM:617101
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Iron deficiency anemia, Thrombocytosis, Lymphocytosis, Decreased proportion of memory B cells, Re...	OMIM:301074
Familial Thrombocytosis	Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia	ORPHA:71493
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Beta-Thalassemia Intermedia	Anemia of inadequate production, Leukocytosis, Persistence of hemoglobin F, Hepatosplenomegaly, S...	ORPHA:231222
Diamond-Blackfan Anemia 7	Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Intrauterine growth retardati...	OMIM:612562
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Congenital Toxoplasmosis	Intrauterine growth retardation, Thrombocytopenia, Anemia	ORPHA:858
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Thrombocytosis, Leukocytosis	OMIM:618213
3-Hydroxy-3-Methylglutaric Aciduria	Anemia, Thrombocytosis, Leukopenia, Leukocytosis	ORPHA:20
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Anemia	OMIM:618838
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Hypothyroidism, Congenital, Nongoitrous, 6	Growth delay, Anemia	OMIM:614450
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Normochromic anemia, Nonspherocytic hemolytic anemia, Reticulocytosis, Splenom...	OMIM:235700
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Poikilocytosis, Growth delay, Intrauterine growth retardation, Acanthocytosis	OMIM:618947
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Imerslund-Grasbeck Syndrome 2	Growth delay, Megaloblastic anemia, Anemia	OMIM:618882
Congenital Erythropoietic Porphyria	Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr...	ORPHA:79277
Reticular Dysgenesis	Abnormality of neutrophils, Anemia, Leukopenia	ORPHA:33355
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Short stature, Anemia	OMIM:226670
Immunodeficiency 115 With Autoinflammation	Postnatal growth retardation, Anemia, T lymphocytopenia, Decreased proportion of memory T cells, ...	OMIM:620632
Dermotrichic Syndrome	Anemia, Proportionate short stature	ORPHA:99688
Hemochromatosis, Type 4	Anemia, Impotence	OMIM:606069
Osteopetrosis, Autosomal Dominant 3	Anemia, Splenomegaly	OMIM:618107
Isolated Agammaglobulinemia	Anemia, Abnormal lymphocyte morphology, Short stature, Thrombocytopenia, Abnormality of neutrophils	ORPHA:229717
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hemolytic anemia	OMIM:609153
Lead Poisoning	Abnormal T cell morphology, Delayed puberty, Anemia, Decreased male libido, Decreased female libi...	ORPHA:330015
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis	ORPHA:134
Bone Marrow Failure Syndrome 3	Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,...	OMIM:617052
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Anemia, Pancytopenia, Leukocytosis, Leukopenia, Splenomegaly, Hepatosplenomegaly, Lymphopenia, Th...	OMIM:615688
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Focal Segmental Glomerulosclerosis 1	Anemia	OMIM:603278
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Short stature, Thrombocytopenia, Splenomegaly, Reduced natural killer cell ...	OMIM:616050
Lathosterolosis	Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology, Intrauterine growth retardation	ORPHA:46059
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida...	OMIM:226990
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Splenomegaly	ORPHA:1046
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Leukocytosis, Abnormality of thrombocytes, Hepatosplenomegaly, Splenomegaly, Extramedulla...	OMIM:612840
Immunodeficiency 114, Folate-Responsive	Postnatal growth retardation, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Shwachman-Diamond Syndrome 1	Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Short stature, Thrombo...	OMIM:260400
Infantile Liver Failure Syndrome 1	Anemia, Macrocytic anemia	OMIM:615438
Coach Syndrome 3	Anemia	OMIM:619113
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Cinca Syndrome	Anemia, Leukocytosis, Growth delay, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Leukopenia, Thrombocytopenia, Lymphop...	OMIM:127550
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Anemia	OMIM:620366
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia	OMIM:620514
Schnitzler Syndrome	Anemia, Leukocytosis, Splenomegaly	ORPHA:37748
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Anemia, Macrocytic anemia	ORPHA:27
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Splenomegaly	OMIM:620296
Wolman Disease	Growth delay, Bone-marrow foam cells, Anemia, Splenomegaly	ORPHA:75233
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Leukocytosis, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis	ORPHA:90038
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Combined Oxidative Phosphorylation Deficiency 40	Intrauterine growth retardation, Neonatal death, Anemia	OMIM:618835
Congenital Disorder Of Glycosylation, Type Ia	Premature ovarian insufficiency, Thrombocytosis, Hypergonadotropic hypogonadism	OMIM:212065
Combined Oxidative Phosphorylation Deficiency 42	Intrauterine growth retardation, Neonatal death, Anemia	OMIM:618839
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Decreased hemo...	OMIM:266200
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Pancytopenia, Decreased proportion of CD4-...	OMIM:613011
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Hypophosphatasia	Short stature, Anemia	ORPHA:436
Hemochromatosis, Type 5	Anemia	OMIM:615517
Congenital Rubella Syndrome	Anemia, Short stature, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation	ORPHA:290
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Leishmaniasis	Anemia, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Thrombocytopenia	ORPHA:507
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Anemia, Splenomegaly, Neutropenia	ORPHA:79312
Trichohepatoenteric Syndrome 1	Short stature, Increased mean platelet volume, Splenomegaly, Intrauterine growth retardation, Thr...	OMIM:222470
Idiopathic Hypereosinophilic Syndrome	Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly...	ORPHA:3260
Syndromic Diarrhea	Hypoplasia of the thymus, Short stature, Increased mean platelet volume, Splenomegaly, Lymphopeni...	ORPHA:84064
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Aplastic anemia, Myeloid leukemia, Anemia, Pancytopenia	OMIM:614742
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis	OMIM:266120
Fetal Cytomegalovirus Syndrome	Intrauterine growth retardation, Thrombocytopenia, Anemia, Splenomegaly	ORPHA:294
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Abnormal lymphocyte morphology, Thrombocytopenia, Splenomega...	ORPHA:100026
Immunodeficiency 102	Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor...	OMIM:301082
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Anemia, Microangiopathic hemolytic anemia	OMIM:612925
Anti-Glomerular Basement Membrane Disease	Anemia	ORPHA:375
Nephronophthisis 4	Growth delay, Anemia	OMIM:606966
Polyendocrine-Polyneuropathy Syndrome	Short stature, Hypogonadotropic hypogonadism, Postnatal growth retardation, Elevated hemoglobin A1c	OMIM:616113
Rhabdoid Tumor	Thrombocytopenia, Anemia	ORPHA:69077
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Shwachman-Diamond Syndrome	Aplastic anemia, Normocytic anemia, Anemia, Acute myeloid leukemia, Macrocytic anemia, Pancytopen...	ORPHA:811
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Anemia, Lymphopenia	OMIM:620365
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia	ORPHA:99867
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia	ORPHA:514
Lathosterolosis	Anisopoikilocytosis	OMIM:607330
Recessive Dystrophic Epidermolysis Bullosa Inversa	Growth delay, Anemia	ORPHA:79409
Letterer-Siwe Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Aceruloplasminemia	Anemia	OMIM:604290
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Brucellosis	Anemia, Leukocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Orchitis, Thrombocytosis, Hyper...	ORPHA:1304
Hoyeraal-Hreidarsson Syndrome	Anemia, Abnormal leukocyte morphology, Short stature, Thrombocytopenia, Intrauterine growth retar...	ORPHA:3322
Pseudo-Torch Syndrome 3	Anemia, Leukocytosis, Congenital thrombocytopenia	OMIM:618886
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positive hemolytic anem...	OMIM:304790
Weismann-Netter Syndrome	Anemia, Severe short stature	ORPHA:3344
Neuroleptic Malignant Syndrome	Thrombocytosis, Thrombocytopenia, Leukocytosis	ORPHA:94093
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia	OMIM:105600
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short stature, Elliptocytosis, Anemia	OMIM:300990
Icf Syndrome	Short stature, Abnormality of neutrophils, Anemia, Lymphopenia	ORPHA:2268
Fanconi Anemia, Complementation Group R	Growth delay, Anemia	OMIM:617244
Bazex Syndrome	Anemia	ORPHA:166113
Kenny-Caffey Syndrome, Type 1	Intrauterine growth retardation, Birth length less than 3rd percentile, Anemia, Proportionate sho...	OMIM:244460
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemia	ORPHA:329971
Arteriosclerosis, Severe Juvenile	Delayed puberty, Anemia, Short stature	OMIM:208060
Congenital Factor Ii Deficiency	Menorrhagia, Anemia	ORPHA:325
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Short stature, Anemia, Abnormal hemoglobin	ORPHA:847
Nephronophthisis 1	Growth delay, Anemia	OMIM:256100
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Omenn Syndrome	Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ...	OMIM:603554
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Neonatal Lupus Erythematosus	Aplastic anemia, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia, Neutropenia	ORPHA:398124
Osteopetrosis With Renal Tubular Acidosis	Anemia, Pancytopenia, Short stature, Elliptocytosis, Thrombocytopenia, Leukopenia	ORPHA:2785
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Postnatal growth retardation, HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta s...	OMIM:301040
Aggressive Systemic Mastocytosis	Anemia, Increased proportion of CD25+ mast cells, Pancytopenia, Leukocytosis, Hepatosplenomegaly,...	ORPHA:98850
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Anemia, Leukocytosis	ORPHA:90060
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldol...	OMIM:611881
Abetalipoproteinemia	Anemia, Acanthocytosis, Reticulocytosis	ORPHA:14
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Anemia	ORPHA:54251
Fanconi Anemia, Complementation Group P	Short stature, Anemia, Growth delay, Pancytopenia	OMIM:613951
Osteopetrosis, Autosomal Recessive 3	Short stature, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly	OMIM:259730
Relapsing Fever	Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia	ORPHA:91547
Leukocyte Adhesion Deficiency	Vaginitis, Acute myeloid leukemia, Impaired platelet aggregation, Leukocytosis, Abnormality of ne...	ORPHA:2968
Eosinophilic Gastroenteritis	Eosinophilia, Anemia, Leukocytosis	ORPHA:2070
Gaucher Disease, Type I	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Isolated Sedoheptulokinase Deficiency	Hypochromic microcytic anemia, Anemia, Severe postnatal growth retardation, Short stature	ORPHA:440713
Transcobalamin Ii Deficiency	Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, Neutropenia	OMIM:275350
Diamond-Blackfan Anemia 10	Anemia, Macrocytic anemia, Reticulocytopenia, Short stature, Growth delay, Steroid-responsive anemia	OMIM:613309
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Acute Promyelocytic Leukemia	Anemia, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Metrorrhagia, Neutropenia	ORPHA:520
Fanconi Anemia, Complementation Group A	Male infertility, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Short ...	OMIM:227650
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Thrombocytopenia, Leukopenia, Anemia, Pancytopenia	OMIM:613845
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, Abnormally low T...	OMIM:608203
Tafro Syndrome	Anemia, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	ORPHA:457077
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Short stature, Thrombocy...	OMIM:600901
Sandifer Syndrome	Anemia	ORPHA:71272
Nephronophthisis 11	Growth delay, Anemia	OMIM:613550
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Leukopenia, Intrauterine growth retardation	OMIM:615190
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Anemia, Macrocytic anemia, Pancytopenia, Short stature, Growth delay, Leukopenia...	OMIM:613990
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu...	ORPHA:158061
Glucagonoma	Acanthocytosis, Normochromic anemia	ORPHA:97280
Stiff-Person Syndrome	Anemia	OMIM:184850
Desmoplastic Small Round Cell Tumor	Anemia	ORPHA:83469
Hereditary Orotic Aciduria	Anemia, Splenomegaly	ORPHA:30
Kawasaki Disease	Thrombocytosis, Leukocytosis	ORPHA:2331
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Reticulocytopenia, Rhizomelic arm shortening, Short stature, Leukopeni...	ORPHA:508542
Immunodeficiency 22	Thrombocytopenia, Decreased proportion of CD4-positive helper T cells, Anemia	OMIM:615758
Renal Nutcracker Syndrome	Infertility, Dysmenorrhea, Anemia, Dyspareunia	ORPHA:71273
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Short stature, Thrombocy...	OMIM:227645
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Kasabach-Merritt Phenomenon	Anemia, Reticulocytosis, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Neutrop...	ORPHA:2330
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Thrombocytopenia, Anemia, Neutropenia	OMIM:251110
Proteasome-Associated Autoinflammatory Syndrome 3	Thrombocytopenia, Anemia, Splenomegaly, Lymphopenia	OMIM:617591
Hemophagocytic Syndrome Associated With An Infection	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl...	ORPHA:158048
Dyskeratosis Congenita, Digenic	Intrauterine growth retardation, Anemia, Short stature	OMIM:620040
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia	ORPHA:935
Autosomal Dominant Kenny-Caffey Syndrome	Postnatal growth retardation, Anemia, Short stature, Growth delay, Intrauterine growth retardation	ORPHA:93325
Lymphatic Malformation 7	Anemia	OMIM:617300
Immunodeficiency 55	Postnatal growth retardation, Short stature, Lymphopenia, Intrauterine growth retardation, Absent...	OMIM:617827
Doors Syndrome	Thrombocytosis	ORPHA:79500
Juvenile Polyposis Syndrome	Anemia	OMIM:174900
Kenny-Caffey Syndrome, Type 2	Anemia, Severe short stature	OMIM:127000
Pearson Marrow-Pancreas Syndrome	Refractory sideroblastic anemia, Anemia, Pancytopenia, Reticulocytopenia, Sideroblastic anemia, T...	OMIM:557000
Alkaptonuria	Prostatitis, Hemolytic anemia, Methemoglobinemia	ORPHA:56
Malt Lymphoma	Anemia	ORPHA:52417
Choreoacanthocytosis	Acanthocytosis, Abnormal erythrocyte enzyme concentration or activity, Splenomegaly	ORPHA:2388
Gastrointestinal Stromal Tumor	Anemia	ORPHA:44890
Tangier Disease	Thrombocytopenia, Hepatosplenomegaly, Anemia	ORPHA:31150
Primary Hyperoxaluria Type 1	Anemia	ORPHA:93598
Paroxysmal Nocturnal Hemoglobinuria	Anemia, Pancytopenia, Abnormal erythrocyte enzyme concentration or activity, Impotence, Reticuloc...	ORPHA:447
Eisenmenger Syndrome	Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:97214
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Anemia	OMIM:175050

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hba-x

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hba-x.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Hba-x^{em1(IMPC)Wtsi}	PMC7263671

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Hba-x^{em1(IMPC)Wtsi}	Deletion	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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