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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 (456 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	Abnormal hemoglobin, Anemia	ORPHA:231249
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	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, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Short stature, Anisocytosis, Anemia of inadequate production, Splenomegaly, Grow...	OMIM:615631
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia	ORPHA:3319
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	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	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro...	ORPHA:86841
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia	ORPHA:294
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Mild postnatal growth retardation, Anisocytosis, Anemia of ina...	OMIM:224120
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia	OMIM:140700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Growth delay, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo...	OMIM:615234
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Shor...	OMIM:613673
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe...	ORPHA:232
Congenital Dyserythropoietic Anemia Type Iii	Short stature, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, ...	ORPHA:98870
Diamond-Blackfan Anemia 13	Normocytic anemia	OMIM:615909
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal...	OMIM:612690
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype...	OMIM:616860
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Diamond-Blackfan Anemia 8	Macrocytic anemia, Short stature, Growth delay, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia	OMIM:153550
Intrinsic Factor Deficiency	Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio...	OMIM:261000
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo...	OMIM:300908
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Hepatosplenomegaly, Pancytopenia, Thrombocytosis, Microcytic anemia	OMIM:604416
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Anemia	OMIM:619398
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis, Short stature	ORPHA:66518
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Nephronophthisis	Anemia	ORPHA:655
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Diamond-Blackfan Anemia 9	Growth delay, Anemia	OMIM:613308
Orotic Aciduria	Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi...	OMIM:258900
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Abnormal erythrocy...	ORPHA:288
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Elliptocytosis 3	Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia	OMIM:617948
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis	OMIM:616649
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Bleeding Disorder, Platelet-Type, 19	Menorrhagia, Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Congenital Atransferrinemia	Anemia	ORPHA:1195
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:612653
Familial Pseudohyperkalemia	Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume	ORPHA:90044
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia	OMIM:616959
Glutathione Peroxidase Deficiency	Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Reticulocytosis	OMIM:130600
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia, Histiocytosis	OMIM:209950
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Ovalocytosis, Southeast Asian	Hemolytic anemia, Elliptocytosis	OMIM:166900
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Hepatosplenomegaly	OMIM:273680
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Unilateral cry...	OMIM:300946
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat...	OMIM:601775
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Spherocytosis, Type 1	Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis	OMIM:182900
Oslam Syndrome	Increased mean corpuscular volume, Short stature, Abnormality of neutrophils	ORPHA:2760
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega...	ORPHA:3202
Fetal Parvovirus Syndrome	Intrauterine growth retardation, Thrombocytopenia, Anemia	ORPHA:295
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Fanconi Anemia, Complementation Group G	Growth delay, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Methemoglobinemia, Polycythemia	OMIM:250800
Elliptocytosis 1	Splenomegaly, Hemolytic anemia, Elliptocytosis	OMIM:611804
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Growth delay, Decreased mean corpuscu...	ORPHA:300298
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis	OMIM:268150
Hyperlysinemia, Type I	Anemia	OMIM:238700
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Asplenia, Growth delay, Coombs-positive hemolytic anemia, Thrombocytosis	OMIM:614034
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane	Nonspherocytic hemolytic anemia	OMIM:206300
Adenosine Triphosphatase Deficiency, Anemia Due To	Nonspherocytic hemolytic anemia	OMIM:102800
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
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Growth delay, Megaloblastic anemia	OMIM:243320
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thro...	ORPHA:848
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume	OMIM:185000
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia	ORPHA:318
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Trimethylaminuria	Splenomegaly, Anemia, Neutropenia	OMIM:602079
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly	OMIM:608898
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia	OMIM:237800
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Anemia, Hypochromic Microcytic, With Iron Overload 1	Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia	OMIM:206100
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Growth delay, Iron deficiency anemia, Thrombocytosis, Anemia	OMIM:226300
Cernunnos-Xlf Deficiency	Thrombocytopenia, Growth delay, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Anemia	ORPHA:169079
Sitosterolemia 1	Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Abnormality of thrombocytes, Anemia	ORPHA:3204
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Diamond-Blackfan Anemia 4	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutropenia	OMIM:612527
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Anemia	OMIM:616435
Malaria	Anemia, Thrombocytopenia	ORPHA:673
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Diamond-Blackfan Anemia 6	Growth delay, Macrocytic anemia, Persistence of hemoglobin F, Increased mean corpuscular volume	OMIM:612561
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Short stature, Postnatal growth retardation, Iron deficiency anemia, Infertili...	OMIM:212750
Niemann-Pick Disease, Type B	Short stature, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, An...	OMIM:607616
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Intrauterine growth retardation, Pancytopenia	OMIM:600546
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Sickle Cell Disease	Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Priapism, Increased red cell si...	OMIM:603903
Bone Marrow Failure Syndrome 4	Rhizomelia, Short stature, Anemia, Leukopenia, Thrombocytopenia	OMIM:618116
Developmental And Epileptic Encephalopathy 50	Schistocytosis, Anisopoikilocytosis, Anemia, Acanthocytosis	OMIM:616457
Autoerythrocyte Sensitization Syndrome	Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Menorrhagia, Thrombocytosis, Impair...	ORPHA:324636
Fanconi Anemia, Complementation Group V	Anemia, Short stature, Thrombocytopenia, Neutropenia	OMIM:617243
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency	Anemia	OMIM:610090
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Intermediate Generalized Junctional Epidermolysis Bullosa	Growth delay, Anemia	ORPHA:79402
Glutamate Formiminotransferase Deficiency	Growth delay, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia	OMIM:229100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia	OMIM:616738
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Atransferrinemia	Hypochromic anemia	OMIM:209300
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Anemia, Congenital Dyserythropoietic, Type Ii	Splenomegaly, Reticulocytosis, Anemia of inadequate production	OMIM:224100
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:274150
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Lymphopenia, Thrombocytosis, Anemia	OMIM:615934
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Immunodeficiency 92	Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt...	OMIM:619652
Majeed Syndrome	Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Growth delay, Decreased m...	OMIM:609628
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia	OMIM:614514
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Growth delay, ...	OMIM:616084
Bone Marrow Failure Syndrome 5	Short stature, Pure red cell aplasia, Erythroid hypoplasia, Growth delay, Hypogonadism, Testicula...	OMIM:618165
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Delayed puberty	ORPHA:2598
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:235400
Orthostatic Hypotension 2	Anemia	OMIM:618182
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt...	OMIM:243150
Diamond-Blackfan Anemia	Acute myeloid leukemia, Short stature, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytop...	ORPHA:124
Immunodeficiency 96	Growth delay, Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Alpha-Heavy Chain Disease	Growth delay, Splenomegaly, Anemia	ORPHA:100025
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Rosaï-Dorfman Disease	Anemia	ORPHA:158014
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Thrombocytopenia, Anemia, Splenomegaly	OMIM:610539
8P11.2 Deletion Syndrome	Hemolytic anemia, Short stature, Hypogonadotropic hypogonadism, Splenomegaly, Cryptorchidism, Sph...	ORPHA:251066
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Cryptorchidism, Short stature, HbH hemoglobin, Microcytic anemia	ORPHA:98791
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Hydatidiform Mole	Menometrorrhagia, Anemia	ORPHA:99927
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Hemochromatosis, Type 2B	Secondary amenorrhea, Splenomegaly, Hypogonadism, Anemia	OMIM:613313
Chylomicron Retention Disease	Growth delay, Acanthocytosis	ORPHA:71
Diamond-Blackfan Anemia 5	Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Leukopenia	OMIM:612528
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Amme Complex	Intrauterine growth retardation, Elliptocytosis	OMIM:300194
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Increased mean corpuscular volume,...	ORPHA:2169
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis	ORPHA:33574
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Hemochromatosis, Type 3	Hypogonadotropic hypogonadism, Impotence, Neutropenia, Lymphopenia, Anemia, Amenorrhea	OMIM:604250
Oslam Syndrome	Anemia	OMIM:165660
Cogan Syndrome	Thrombocytosis, Leukocytosis, Anemia	ORPHA:1467
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Mitochondrial Complex I Deficiency, Nuclear Type 39	Intrauterine growth retardation, Anemia, Cryptorchidism	OMIM:620135
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Short stature, Splenomegaly, Growth delay, Stomatocytosis	OMIM:608885
Amed Syndrome, Digenic	Acute myeloid leukemia, Short stature, Anemia, Leukopenia, Thrombocytopenia	OMIM:619151
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Thrombocytopenia, Splenomegaly, Growth delay, Anemia	OMIM:611490
Familial Benign Copper Deficiency	Short stature, Anemia	ORPHA:1551
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia	OMIM:616871
Senior-Loken Syndrome 4	Anemia	OMIM:606996
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia	ORPHA:100024
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Maternal Uniparental Disomy Of Chromosome 4	Postnatal growth retardation, Abnormal erythrocyte morphology, Short stature, Acanthocytosis	ORPHA:96180
Hereditary Cryohydrocytosis With Reduced Stomatin	Spontaneous hemolytic crises, Short stature, Postnatal growth retardation, Hepatosplenomegaly, St...	ORPHA:168577
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia	ORPHA:28
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Diamond-Blackfan Anemia 12	Macrocytic anemia, Reticulocytopenia, Normochromic anemia	OMIM:615550
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia	OMIM:613101
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Thrombocytosis, Congenital hypoplastic anemia, Reticulocytopeni...	OMIM:105650
Short Stature With Microcephaly And Distinctive Facies	Severe short stature, Anisopoikilocytosis, Anemia	OMIM:615789
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Intrauterine growth retardation, Short stature, Anemia, Neutropenia	OMIM:617056
Mcleod Syndrome	Splenomegaly, Acanthocytosis	OMIM:300842
Poems Syndrome	Hypogonadism, Thrombocytosis, Polycythemia, Erectile dysfunction	ORPHA:2905
Interstitial Lung And Liver Disease	Thrombocytosis, Anemia	OMIM:615486
Potocki-Shaffer Syndrome	Anemia, Delayed puberty	ORPHA:52022
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Short stature	OMIM:617101
Familial Thrombocytosis	Acute myeloid leukemia, Thrombocytosis, Chronic myelogenous leukemia, Splenomegaly	ORPHA:71493
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Anemia	ORPHA:2325
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
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, Lymphocytosis, Thrombocytosis, Reduced natural killer cell count, Decreas...	OMIM:301074
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Anemia	ORPHA:2123
Congenital Toxoplasmosis	Intrauterine growth retardation, Thrombocytopenia, Anemia	ORPHA:858
Diamond-Blackfan Anemia 7	Macrocytic anemia, Growth delay, Increased mean corpuscular volume, Neutropenia, Intrauterine gro...	OMIM:612562
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Leukocytosis, Thrombocytosis, Anemia	ORPHA:20
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Combined Oxidative Phosphorylation Deficiency 41	Intrauterine growth retardation, Anemia	OMIM:618838
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Growth delay, Poikilocytosis, Intrauterine growth retardation	OMIM:618947
Hypothyroidism, Congenital, Nongoitrous, 6	Growth delay, Anemia	OMIM:614450
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Cryptorchidism, Short stature, Anemia	ORPHA:1192
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr...	ORPHA:79277
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Growth delay, Thrombocytopenia, Anemia, Neutropenia	ORPHA:289916
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Transaldolase Deficiency	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:101028
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Thrombocytopenia, Cryptorch...	OMIM:617052
Dermotrichic Syndrome	Anemia, Proportionate short stature	ORPHA:99688
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Short stature, Anemia	OMIM:226670
Reticular Dysgenesis	Anemia, Leukopenia, Abnormality of neutrophils	ORPHA:33355
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Junctional Epidermolysis Bullosa Inversa	Growth delay, Anemia	ORPHA:79405
Hemochromatosis, Type 4	Impotence, Anemia	OMIM:606069
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Anemia	OMIM:613092
Isolated Agammaglobulinemia	Short stature, Abnormality of neutrophils, Thrombocytopenia, Abnormal lymphocyte morphology, Anemia	ORPHA:229717
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Anemia	OMIM:618107
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Hypochromic microcytic anemia	OMIM:301310
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Leukopenia, Thrombocytosis, Lymphop...	OMIM:615688
Focal Segmental Glomerulosclerosis 1	Anemia	OMIM:603278
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis	ORPHA:134
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Short stature, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocyto...	OMIM:616050
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytosis, Hepatosple...	OMIM:612840
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Splenomegaly, Anemia	ORPHA:1046
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Intrauterine growth retardation, Short stature, HbH hemoglobin	ORPHA:423479
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Short stature, Thrombocytopenia, Persistence of hemoglobin ...	OMIM:260400
Lathosterolosis	Intrauterine growth retardation, Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Lead Poisoning	Decreased female libido, Abnormality of the menstrual cycle, Imbalanced hemoglobin synthesis, Abn...	ORPHA:330015
Coach Syndrome 3	Anemia	OMIM:619113
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a...	OMIM:235700
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Cinca Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Growth delay, Anemia	OMIM:607115
Infantile Liver Failure Syndrome 1	Macrocytic anemia, Anemia	OMIM:615438
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Osteopetrosis, Autosomal Recessive 9	Postnatal growth retardation, Anemia	OMIM:620366
Schnitzler Syndrome	Splenomegaly, Leukocytosis, Anemia	ORPHA:37748
Late-Onset Junctional Epidermolysis Bullosa	Growth delay, Anemia	ORPHA:79406
Vitamin B12-Unresponsive Methylmalonic Acidemia	Thrombocytopenia, Leukopenia, Macrocytic anemia, Anemia	ORPHA:27
Wolman Disease	Growth delay, Splenomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:90038
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Combined Oxidative Phosphorylation Deficiency 40	Neonatal death, Intrauterine growth retardation, Anemia	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Neonatal death, Intrauterine growth retardation, Anemia	OMIM:618839
Pyruvate Kinase Deficiency Of Red Cells	Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612926
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis, Premature ovarian insufficiency, Hypergonadotropic hypogonadism	OMIM:212065
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Anemia, Leu...	OMIM:613011
Hypophosphatasia	Short stature, Anemia	ORPHA:436
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia	OMIM:620296
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612924
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia	ORPHA:3405
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia, Cryptorchidism	OMIM:620365
Hemochromatosis, Type 5	Anemia	OMIM:615517
Congenital Rubella Syndrome	Short stature, Splenomegaly, Anemia, Intrauterine growth retardation, Thrombocytopenia	ORPHA:290
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
3-Methylglutaconic Aciduria, Type V	Postnatal growth retardation, Cryptorchidism, Normochromic microcytic anemia, Intrauterine growth...	OMIM:610198
Self-Improving Dystrophic Epidermolysis Bullosa	Growth delay, Anemia	ORPHA:79411
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Thrombocytopenia, Anemia, Neutropenia	ORPHA:79312
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:507
Trichohepatoenteric Syndrome 1	Thrombocytosis, Short stature, Increased mean platelet volume, Splenomegaly, Intrauterine growth ...	OMIM:222470
Syndromic Diarrhea	Short stature, Thrombocytosis, Increased mean platelet volume, Splenomegaly, Hypoplasia of the th...	ORPHA:84064
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Polyendocrine-Polyneuropathy Syndrome	Short stature, Elevated hemoglobin A1c, Hypogonadotropic hypogonadism, Postnatal growth retardati...	OMIM:616113
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Immunodeficiency 102	Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Leukopenia, De...	OMIM:301082
Rhabdoid Tumor	Thrombocytopenia, Anemia	ORPHA:69077
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia	OMIM:612925
Nephronophthisis 4	Growth delay, Anemia	OMIM:606966
Anti-Glomerular Basement Membrane Disease	Anemia	ORPHA:375
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Myeloid leukemia, Pancytopenia, Aplastic anemia, Anemia	OMIM:614742
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Aceruloplasminemia	Anemia	OMIM:604290
Corticosteroid-Binding Globulin Deficiency	Anemia	OMIM:611489
Stormorken Syndrome	Howell-Jolly bodies, Short stature, Asplenia, Thrombocytopenia, Hypoplastic spleen, Anemia	OMIM:185070
Brucellosis	Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Orchitis, Leukopenia, Thrombocytosis...	ORPHA:1304
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Short stature, Anemia, Intrauterine growth retardation, Thrombocyt...	ORPHA:3322
Pseudo-Torch Syndrome 3	Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Intermediate Osteopetrosis	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:210110
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormal testis morphology, Anemia	ORPHA:54251
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Weismann-Netter Syndrome	Severe short stature, Anemia	ORPHA:3344
Neuroleptic Malignant Syndrome	Thrombocytosis, Leukocytosis, Thrombocytopenia	ORPHA:94093
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Short stature, Anemia	OMIM:300990
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Cryptorchidism, Short stature, Abnormal hemoglobin, Anemia	ORPHA:847
Solitary Rectal Ulcer Syndrome	Anemia	ORPHA:209964
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Growth delay, Anemia	ORPHA:329971
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia	OMIM:105600
Fanconi Anemia, Complementation Group P	Pancytopenia, Short stature, Cryptorchidism, Growth delay, Anemia	OMIM:613951
Kenny-Caffey Syndrome, Type 1	Birth length less than 3rd percentile, Intrauterine growth retardation, Anemia, Proportionate sho...	OMIM:244460
Fanconi Anemia, Complementation Group R	Growth delay, Anemia	OMIM:617244
Bazex Syndrome	Anemia	ORPHA:166113
Arteriosclerosis, Severe Juvenile	Short stature, Anemia, Delayed puberty	OMIM:208060
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Icf Syndrome	Anemia, Lymphopenia, Short stature, Abnormality of neutrophils	ORPHA:2268
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Postnatal growth retardation, Cryptorchidism, Reduced alpha/beta synthesis ratio, Hypochromic mic...	OMIM:301040
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Short stature, Anemia, Leukopenia, Elliptocytosis, Thrombocytopenia	ORPHA:2785
Nephronophthisis 1	Growth delay, Anemia	OMIM:256100
Congenital Factor Ii Deficiency	Menorrhagia, Anemia	ORPHA:325
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Drug-Induced Lupus Erythematosus	Thrombocytopenia, Anemia	ORPHA:231111
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Short stature, Thrombocytosis, Leukocytosis, Growth delay, Vaginitis, Abn...	ORPHA:2968
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Neutrophilic Dermatosis, Acute Febrile	Anemia	OMIM:608068
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly	OMIM:259730
Fanconi Anemia, Complementation Group A	Male infertility, Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Re...	OMIM:227650
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Abetalipoproteinemia	Reticulocytosis, Anemia, Acanthocytosis	ORPHA:14
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Isolated Sedoheptulokinase Deficiency	Severe postnatal growth retardation, Hypochromic microcytic anemia, Short stature, Anemia	ORPHA:440713
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Reticulocytopenia, Growth delay, Steroid-responsive anemia, Anemia	OMIM:613309
Fanconi Anemia, Complementation Group E	Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Cryptorchidism, Reticulocytopenia, A...	OMIM:600901
Eosinophilic Gastroenteritis	Leukocytosis, Eosinophilia, Anemia	ORPHA:2070
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Thrombocytopenia, Pancytopenia, Anemia	OMIM:613845
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Glycogen Storage Disease Xii	Normocytic anemia, Short stature, Splenomegaly, Normochromic anemia, Delayed puberty, Nonspherocy...	OMIM:611881
Nephronophthisis 11	Growth delay, Anemia	OMIM:613550
Desmoplastic Small Round Cell Tumor	Testicular neoplasm, Anemia	ORPHA:83469
Sandifer Syndrome	Anemia	ORPHA:71272
Macrophage Activation Syndrome	Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell count, Thromboc...	ORPHA:158061
Hatipoglu Immunodeficiency Syndrome	Pancytopenia, Proportionate short stature, Cryptorchidism, Intrauterine growth retardation, Anemia	OMIM:620331
Methylmalonic Aciduria, Cblb Type	Thrombocytopenia, Pancytopenia, Anemia, Neutropenia	OMIM:251110
Dyskeratosis Congenita, Autosomal Recessive 5	Postnatal growth retardation, Intrauterine growth retardation, Leukopenia	OMIM:615190
Mirage Syndrome	Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Leukopenia, Intr...	OMIM:617053
Glucagonoma	Normochromic anemia, Acanthocytosis	ORPHA:97280
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Growth delay, Leukopenia, Delayed pu...	ORPHA:77259
Stiff-Person Syndrome	Anemia	OMIM:184850
Hereditary Orotic Aciduria	Splenomegaly, Anemia	ORPHA:30
Fanconi Anemia, Complementation Group C	Pancytopenia, Short stature, Hypergonadotropic hypogonadism, Thrombocytopenia, Cryptorchidism, Re...	OMIM:227645
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia	OMIM:615758
Dyskeratosis Congenita, Digenic	Intrauterine growth retardation, Short stature, Decreased testicular size, Anemia	OMIM:620040
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short stature, Thrombocytopenia, Reticulocytopenia, Rhizomelic arm shortening, Leukopenia, B lymp...	ORPHA:508542
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Renal Nutcracker Syndrome	Dyspareunia, Dysmenorrhea, Anemia, Infertility	ORPHA:71273
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Fanconi Anemia, Complementation Group F	Short stature, Thrombocytopenia, Cryptorchidism, Leukopenia, Intrauterine growth retardation, Anemia	OMIM:603467
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro...	ORPHA:158048
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Thrombocytopenia, Lymphopenia, Anemia	OMIM:617591
Senior-Loken Syndrome 1	Anemia	OMIM:266900
Autosomal Dominant Kenny-Caffey Syndrome	Short stature, Postnatal growth retardation, Growth delay, Intrauterine growth retardation, Decre...	ORPHA:93325
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Anemia	ORPHA:935
Lymphatic Malformation 7	Anemia	OMIM:617300
Kenny-Caffey Syndrome, Type 2	Severe short stature, Short stature, Anemia	OMIM:127000
Immunodeficiency 55	Absent natural killer cells, Short stature, Postnatal growth retardation, Neutropenia, Intrauteri...	OMIM:617827
Doors Syndrome	Thrombocytosis	ORPHA:79500
Juvenile Polyposis Syndrome	Anemia	OMIM:174900
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Neutropenia, Hypoplastic...	OMIM:557000
Malt Lymphoma	Anemia	ORPHA:52417
Tangier Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:31150
Choreoacanthocytosis	Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis	ORPHA:2388
Gastrointestinal Stromal Tumor	Anemia	ORPHA:44890
Primary Hyperoxaluria Type 1	Anemia	ORPHA:93598
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope...	ORPHA:447
Eisenmenger Syndrome	Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic 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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