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Gene: Hba-a1 MGI:96015

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

hemoglobin alpha, adult chain 1

Synonyms:

Hba1, alpha 1 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-a1 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-a1 (7 diseases)
Human diseases predicted to be associated with Hba-a1 (437 diseases)

The table below shows human diseases associated to Hba-a1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791

The table below shows human diseases predicted to be associated to Hba-a1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Anemia, Steroid-responsive anemia	OMIM:618312
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
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
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin	ORPHA:231249
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis	OMIM:603529
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Woronets Trait	Red blood cell keratocytosis	OMIM:194320
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Spastic Paraplegia And Evans Syndrome	Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia	OMIM:601608
Anemia, Sideroblastic, 4	Abnormal erythrocyte morphology, Sideroblastic anemia	OMIM:182170
Glutathione Peroxidase Deficiency	Compensated hemolytic anemia, Heinz bodies	OMIM:614164
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
Iron-Refractory Iron Deficiency Anemia	Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis	OMIM:206200
Adenylate Kinase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:612631
6-Phosphogluconolactonase Deficiency	Hemolytic anemia	OMIM:172150
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Asplenia, Isolated Congenital	Asplenia, Howell-Jolly bodies, Thrombocytosis	OMIM:271400
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Thrombocythemia 2	Thrombocytosis	OMIM:601977
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro...	ORPHA:67044
Glutathione Synthetase Deficiency	Hemolytic anemia	ORPHA:32
Thrombocythemia 3	Thrombocytosis	OMIM:614521
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:230450
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Hyperbilirubinemia, Shunt, Primary	Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis	OMIM:237800
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat...	OMIM:615631
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he...	ORPHA:3203
Diamond-Blackfan Anemia 13	Normocytic anemia, Elevated red cell adenosine deaminase level	OMIM:615909
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Splenomegaly	OMIM:206400
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume	OMIM:252270
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia	OMIM:301083
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal...	OMIM:612690
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc...	OMIM:202700
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Thrombocytopenia, Abnormal hemoglobin	ORPHA:3319
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia	OMIM:618660
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis	OMIM:179700
Thrombocythemia 1	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr...	OMIM:187950
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia	OMIM:618310
Elliptocytosis 2	Elliptocytosis, Hemolytic anemia, Reticulocytosis	OMIM:130600
Glutamate-Cysteine Ligase Deficiency	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly	ORPHA:33574
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic...	OMIM:616689
Pyropoikilocytosis, Hereditary	Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis	OMIM:266140
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A...	OMIM:300835
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:231900
Spherocytosis, Type 3	Hemolytic anemia, Spherocytosis	OMIM:270970
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Elliptocytosis, Anemia of inadequate production, Hemolytic anemia	OMIM:166910
Anemia, Congenital Dyserythropoietic, Type Ii	Anemia of inadequate production, Splenomegaly, Reticulocytosis	OMIM:224100
Familial Pseudohyperkalemia	Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume	ORPHA:90044
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A...	ORPHA:86841
Immunodeficiency 69	Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly	OMIM:618963
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Anemia, Autoimmune Hemolytic	Autoimmune hemolytic anemia	OMIM:205700
Spherocytosis, Type 4	Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis	OMIM:612653
Elliptocytosis 3	Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis	OMIM:617948
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:846
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis	OMIM:616649
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Decreased mean corpuscular volume, Anemia, Sideroblastic anemia, Hypochromia	OMIM:205950
Juvenile Arthritis	Thrombocytosis, Leukocytosis	OMIM:618795
Ovalocytosis, Southeast Asian	Elliptocytosis, Hemolytic anemia	OMIM:166900
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly	ORPHA:294
Autoimmune Hemolytic Anemia, Cold Type	Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia	ORPHA:228312
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis	OMIM:300367
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Immunoerythromyeloid Hypoplasia	Erythroid hypoplasia	OMIM:242880
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po...	OMIM:224120
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic anemia, Thrombo...	ORPHA:232
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenome...	ORPHA:444463
Porphyria, Acute Hepatic	Hemolytic anemia	OMIM:612740
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia...	OMIM:619041
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185000
Adenosine Triphosphate, Elevated, Of Erythrocytes	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia	OMIM:102900
Spherocytosis, Type 1	Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis	OMIM:182900
Chromosome 5Q Deletion Syndrome	Anemia of inadequate production, Erythroid hypoplasia, Refractory macrocytic anemia	OMIM:153550
Intrinsic Factor Deficiency	Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo...	OMIM:261000
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi...	OMIM:616860
Hemolytic Anemia, Congenital, X-Linked	Hemolytic anemia	OMIM:301015
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:612126
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular...	ORPHA:98870
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Normocytic anemia, Eryt...	ORPHA:75564
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy...	OMIM:613673
Red Cell Permeability Defect	Elliptocytosis	OMIM:179650
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic a...	OMIM:235700
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia	ORPHA:2802
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ...	OMIM:300908
Bone Marrow Failure And Diabetes Mellitus Syndrome	T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume	OMIM:620044
Rh-Null, Regulator Type	Stomatocytosis, Hemolytic anemia	OMIM:268150
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Orotic Aciduria	Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg...	OMIM:258900
Glutathione Synthetase Deficiency	Neutropenia, Hemolytic anemia	OMIM:266130
Glycogen Storage Disease Vii	Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis	OMIM:232800
Elliptocytosis 1	Elliptocytosis, Splenomegaly, Hemolytic anemia	OMIM:611804
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Nephronophthisis	Anemia	ORPHA:655
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Normochromic anemia	OMIM:245900
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hypochromia, Splenomegaly	OMIM:615234
Dehydrated Hereditary Stomatocytosis	Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi...	ORPHA:3202
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis	OMIM:300653
Diamond-Blackfan Anemia 12	Elevated red cell adenosine deaminase level, Macrocytic anemia, Reticulocytopenia, Normochromic a...	OMIM:615550
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis	OMIM:616959
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Megaloblastic Anemia, Folate-Responsive	Episodic hemolytic anemia, Schistocytosis, Hypersegmentation of neutrophil nuclei, Folate-respons...	OMIM:601775
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612563
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis	OMIM:619398
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia	OMIM:611283
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemolytic anemia	OMIM:266120
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive	Macrocytic anemia, Macrocytic dyserythropoietic anemia	OMIM:619789
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia...	OMIM:300946
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne	Microcytic anemia, Thrombocytosis, Pancytopenia, Hepatosplenomegaly	OMIM:604416
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Megaloblastic anemia, Lymphopenia, Pancytopenia, Thrombocytosis, Macrocytic anemia, Hypersegmenta...	OMIM:617780
Rh Deficiency Syndrome	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a...	ORPHA:71275
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, And Pallidal Degeneration	Acanthocytosis	OMIM:607236
Pyruvate Kinase Deficiency Of Red Cells	Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hemolytic ane...	OMIM:266200
Harderoporphyria	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:618892
Bone Marrow Failure Syndrome 6	Anemia, Lymphopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia	OMIM:618849
Diamond-Blackfan Anemia 16	Anemia	OMIM:617408
Protoporphyria, Erythropoietic, 2	Iron deficiency anemia	OMIM:618015
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Thrombotic Thrombocytopenic Purpura	Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis	ORPHA:54057
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Eosinophilia, Familial	Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia	OMIM:131400
Congenital Atransferrinemia	Anemia	ORPHA:1195
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P...	ORPHA:288
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Decreased mean corpuscular volume, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly	OMIM:611590
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Increased red ce...	OMIM:194380
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Thrombocytopenia, Splenomegaly	OMIM:615010
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Neutropenia, Macrocytic anemia, Reticulocytopenia	OMIM:612527
Osteopetrosis, Autosomal Recessive 4	Anemia, Thrombocytopenia, Splenomegaly, Reticulocytosis	OMIM:611490
Diamond-Blackfan Anemia 9	Anemia	OMIM:613308
Erythrocytosis, Familial, 8	Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia	OMIM:222800
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Decreased proporti...	OMIM:617514
Abetalipoproteinemia	Acanthocytosis	OMIM:200100
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis	ORPHA:713
Primary Familial Polycythemia	Abnormal hemoglobin, Polycythemia	ORPHA:90042
Erythrocytosis, Familial, 5	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617907
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Anemia, Hypochromia, Erythroid hyperplasia	OMIM:206100
Immunodeficiency 27A	Anemia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Histiocytosis, Splenomegaly	OMIM:209950
Erythrocytosis, Familial, 3	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:609820
Erythrocytosis, Familial, 6	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:617980
Anemia, Sideroblastic, 1	Hypochromic microcytic anemia, Anemia of inadequate production, Sideroblastic anemia, Macrocytic ...	OMIM:300751
Immunodeficiency 14B, Autosomal Recessive	B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis	OMIM:619281
Developmental And Epileptic Encephalopathy 50	Anemia, Schistocytosis, Anisopoikilocytosis, Acanthocytosis	OMIM:616457
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Thrombocytopenia, Leukemia	OMIM:133180
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Bleeding Disorder, Platelet-Type, 16	Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto...	OMIM:187800
Acute Erythroid Leukemia	Erythroid hypoplasia, Leukopenia, Anemia, Pancytopenia	ORPHA:318
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Erythrocytosis, Familial, 4	Increased hematocrit, Increased hemoglobin, Polycythemia	OMIM:611783
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Thrombocytopenia 7	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619130
Hb Bart'S Hydrops Fetalis	Anemia, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Diamond-Blackfan Anemia 20	Anemia, Erythroid hypoplasia	OMIM:618313
Protoporphyria, Erythropoietic, 1	Hemolytic anemia	OMIM:177000
Amegakaryocytic Thrombocytopenia, Congenital	Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia	OMIM:604498
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Megaloblastic anemia	OMIM:243320
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia	OMIM:615399
Bone Marrow Failure Syndrome 2	Leukopenia, Anemia, Thrombocytopenia	OMIM:615715
Imerslund-Gräsbeck Syndrome	Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa...	ORPHA:35858
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Anisocytosis	OMIM:604273
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Leukopenia, Macrocytic anemia, Reticulocytopenia	OMIM:612528
Sitosterolemia 1	Stomatocytosis, Anemia, Reticulocytosis, Episodic hemolytic anemia, Chronic hemolytic anemia, Gia...	OMIM:210250
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Hemolytic anemia	OMIM:612300
Primary Myelofibrosis	Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Thrombocytosis, Leukocytosis, Extramedu...	ORPHA:824
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Hepatosplenomegaly	OMIM:273680
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia	OMIM:247800
Bleeding Disorder, Platelet-Type, 19	Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:616176
Ichthyosis, Congenital, Autosomal Recessive 5	Acanthocytosis	OMIM:604777
Hydrops Fetalis, Nonimmune	Anemia	OMIM:236750
Beta-Thalassemia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:848
3-Methylglutaconic Aciduria, Type Viia	Anemia, Neutropenia, Anisopoikilocytosis	OMIM:619835
Hemophagocytic Lymphohistiocytosis, Familial, 3	Granulocytopenia, Anemia, Hemophagocytosis, Hepatosplenomegaly	OMIM:608898
Systemic Lupus Erythematosus	Leukopenia, Thrombocytopenia, Hemolytic anemia	OMIM:152700
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Hepatosplenomegaly, Dec...	ORPHA:300298
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Reticu...	ORPHA:822
Pernicious Anemia	Megaloblastic anemia	OMIM:170900
Heme Oxygenase 1 Deficiency	Asplenia, Coombs-positive hemolytic anemia, Hemolytic anemia, Thrombocytosis	OMIM:614034
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Trimethylaminuria	Anemia, Neutropenia, Splenomegaly	OMIM:602079
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Paroxysmal Cold Hemoglobinuria	Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia	ORPHA:90035
Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia	ORPHA:98375
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm...	OMIM:619375
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Increased...	OMIM:601859
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Nonspherocytic hemolytic anemia, Spontaneous hemolytic crises, Splenomegaly, Impaired neutrophil ...	OMIM:613470
Thrombotic Thrombocytopenic Purpura, Hereditary	Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis	OMIM:274150
Babesiosis	Leukopenia, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:108
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia	ORPHA:56425
Refractory Anemia	Neutropenia, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytopenia, Anemia...	ORPHA:98826
Dominant Beta-Thalassemia	Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos...	ORPHA:231226
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F	OMIM:612561
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Hemolytic anemia, Thrombocytopenia, Increased mean platelet volume	OMIM:153670
Atransferrinemia	Hypochromic anemia	OMIM:209300
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis	OMIM:235400
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia	ORPHA:295
Hypobetalipoproteinemia, Familial, 1	Acanthocytosis	OMIM:615558
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia	OMIM:613839
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos...	OMIM:618278
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Orthostatic Hypotension 2	Anemia	OMIM:618182
Imerslund-Grasbeck Syndrome 2	Megaloblastic anemia	OMIM:618882
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:612925
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Anemia, Thrombocytosis	OMIM:226300
Sickle Cell Disease	Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Leukocytosis, Increased red cel...	OMIM:603903
Bleeding Disorder, Platelet-Type, 24	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619271
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Choreoacanthocytosis	Acanthocytosis	OMIM:200150
Maturity-Onset Diabetes Of The Young, Type 14	Elevated hemoglobin A1c	OMIM:616511
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Immunodeficiency 92	B lymphocytopenia, Lymphocytosis, Decreased proportion of class-switched memory B cells, Thromboc...	OMIM:619652
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Extramedullary hematopoiesis, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:615285
Lcat Deficiency	Hemolytic anemia	ORPHA:650
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia	ORPHA:371
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia	OMIM:223350
Platelet Signal Processing Defect	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a...	OMIM:173590
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop...	ORPHA:2330
Idiopathic Aplastic Anemia	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia	ORPHA:88
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Formiminoglutamic Aciduria	Anemia, Megaloblastic anemia	ORPHA:51208
Neonatal Lupus Erythematosus	Anemia, Neutropenia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Splenomegaly	ORPHA:398124
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomegaly	OMIM:616084
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop...	OMIM:603909
Erythrocytosis, Familial, 1	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly	OMIM:133100
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia	ORPHA:57
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Anemia, Thrombocytosis, Lymphopenia	OMIM:615934
Galactosemia I	Hemolytic anemia	OMIM:230400
Chylomicron Retention Disease	Acanthocytosis	ORPHA:71
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytop...	OMIM:304790
Beta-Thalassemia Major	Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c...	ORPHA:231214
Oslam Syndrome	Anemia	OMIM:165660
Fanconi Anemia, Complementation Group G	Anemia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune hemoly...	OMIM:619220
Amme Complex	Elliptocytosis	OMIM:300194
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Lymphopenia, Impaired lymphocyte transformation with phytohemagglutinin...	OMIM:243150
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Megaloblastic anemia	OMIM:277410
Blackfan-Diamond Anemia	Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi...	ORPHA:124
Autoerythrocyte Sensitization Syndrome	Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy...	ORPHA:324636
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia	OMIM:608184
Mcleod Syndrome	Splenomegaly, Acanthocytosis	OMIM:300842
Lesch-Nyhan Syndrome	Anemia	ORPHA:510
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Cogan Syndrome	Anemia, Thrombocytosis, Leukocytosis	ORPHA:1467
Combined Immunodeficiency Due To Partial Rag1 Deficiency	T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi...	ORPHA:231154
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Thrombocytopenia, Splenomegaly	ORPHA:169090
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Thrombocytosis	ORPHA:71493
Triosephosphate Isomerase Deficiency	Hemolytic anemia, Normocytic anemia, Chronic hemolytic anemia, Macrocytic anemia, Splenomegaly, N...	OMIM:615512
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia	OMIM:617243
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosplenomegaly, Persistence of hemoglobin F...	ORPHA:231222
Short Stature With Microcephaly And Distinctive Facies	Anisopoikilocytosis, Anemia	OMIM:615789
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Hemolytic anemia, Splenomegaly	OMIM:608885
Methylcobalamin Deficiency Type Cble	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia, Pancytopenia	ORPHA:2169
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Leukocytosis, Thrombocytopenia	ORPHA:90038
Diabetes Mellitus, Permanent Neonatal, 4	Elevated hemoglobin A1c	OMIM:618858
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Hemolytic anemia, T lymphocytopenia, B lymphocytopenia, Decreased propor...	OMIM:606367
Congenital Erythropoietic Porphyria	Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi...	ORPHA:79277
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Lymphopenia, Hepatosplenomegaly, Impaired oxidative burst, Splenomegaly	OMIM:618935
Celiac Disease, Susceptibility To, 1	Iron deficiency anemia, Thrombocytosis, Macrocytic anemia	OMIM:212750
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a...	OMIM:159550
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Elevated hemoglobin A1c	OMIM:609812
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis	ORPHA:86818
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Lymphocytosis, Thrombocytosis, Decreased proportion of memory ...	OMIM:301074
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Hydatidiform Mole	Anemia	ORPHA:99927
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Interstitial Lung And Liver Disease	Anemia, Thrombocytosis	OMIM:615486
Diabetes Mellitus, Transient Neonatal, 3	Elevated hemoglobin A1c	OMIM:610582
Acute Bilirubin Encephalopathy	Hemolytic anemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hemolytic anemia	ORPHA:529808
Maternal Uniparental Disomy Of Chromosome 4	Abnormal erythrocyte morphology, Acanthocytosis	ORPHA:96180
3-Hydroxy-3-Methylglutaric Aciduria	Leukopenia, Anemia, Thrombocytosis, Leukocytosis	ORPHA:20
Glycogen Storage Disease Xii	Anemia, Normocytic anemia, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic anemia	OMIM:611881
Hereditary Cryohydrocytosis With Reduced Stomatin	Stomatocytosis, Spontaneous hemolytic crises, Hepatosplenomegaly	ORPHA:168577
Myasthenia Gravis	Hemolytic anemia, Pure red cell aplasia	ORPHA:589
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an...	OMIM:127550
Arthrogryposis Multiplex Congenita 5	Normocytic anemia, Acanthocytosis, Poikilocytosis	OMIM:618947
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Neutropenia, Macrocytic anemia	OMIM:612562
Poems Syndrome	Thrombocytosis, Polycythemia	ORPHA:2905
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Elevated hemoglobin A1c	OMIM:619278
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis	ORPHA:134
8P11.2 Deletion Syndrome	Hemolytic anemia, Splenomegaly, Spherocytosis	ORPHA:251066
Copper Deficiency, Familial Benign	Anemia	OMIM:121270
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Hellp Syndrome	Thrombocytopenia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Thrombocytosis, Leukocytosis, Hypochromic anemia	OMIM:618213
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Thrombocytopenia, Refractory anemia	OMIM:231095
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Anemia, Thrombocytopenia, Pancytopenia	OMIM:616435
Immunodeficiency 46	Anemia, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Autoimmune Lymphoproliferative Syndrome	Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an...	ORPHA:3261
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Anemia, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, ...	OMIM:615688
Transcobalamin Ii Deficiency	Reticulocytopenia, Pancytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia	OMIM:275350
Diabetes Mellitus, Permanent Neonatal, 1	Elevated hemoglobin A1c	OMIM:606176
Immunodeficiency 81	Impaired neutrophil chemotaxis, Abnormally low T cell receptor excision circle level, Decreased p...	OMIM:619374
Paroxysmal Nocturnal Hemoglobinuria	Leukopenia, Anemia, Hemolytic anemia, Abnormal erythrocyte enzyme level, Erythroid hyperplasia, R...	ORPHA:447
Focal Segmental Glomerulosclerosis 1	Anemia	OMIM:603278
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly...	OMIM:614172
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Thrombocytopenia, Neutropenia, Splenomegaly	OMIM:308230
Diamond-Blackfan Anemia 1	Reticulocytopenia, Thrombocytosis, Thrombocytopenia, Neutropenia, Elevated red cell adenosine dea...	OMIM:105650
Oxoglutaric Aciduria	Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy	ORPHA:31
Lathosterolosis	Thrombocytopenia, Abnormal platelet morphology, Anisopoikilocytosis	ORPHA:46059
Erythrocytosis, Familial, 2	Increased hematocrit, Increased red blood cell mass, Increased hemoglobin	OMIM:263400
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Pancytopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decre...	OMIM:613011
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Pancytopenia, Persistence of hemoglobin F, Thrombocytopenia, Neut...	OMIM:260400
Thymoma	Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia, Leukemia	ORPHA:99867
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin	ORPHA:423479
Immunodeficiency 23	Hemolytic anemia, Neutropenia, Lymphopenia, Eosinophilia	OMIM:615816
Lathosterolosis	Anisopoikilocytosis, Hepatosplenomegaly, Schistocytosis, Increased mean platelet volume, Acanthoc...	OMIM:607330
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:464343
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Gamma-Heavy Chain Disease	Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thrombocytopenia, Splenomegaly,...	ORPHA:100026
Common Variable Immunodeficiency	Hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia	ORPHA:1572
Pgm3-Cdg	Leukopenia, Reduced natural killer cell count, T lymphocytopenia, Hemolytic anemia, Abnormal prop...	ORPHA:443811
Hepatocellular Carcinoma	Thrombocytosis, Thrombocytopenia, Polycythemia, Anemia	ORPHA:88673
Methylmalonic Aciduria, Cblb Type	Anemia, Pancytopenia, Decreased methylmalonyl-CoA mutase activity, Thrombocytopenia, Neutropenia	OMIM:251110
Evans Syndrome	Neutropenia in presence of anti-neutropil antibodies, Autoimmune hemolytic anemia, Autoimmune thr...	ORPHA:1959
Anemia, Congenital Dyserythropoietic, Type Iiia	Congenital hypoplastic anemia, Anemia of inadequate production, Macrocytic anemia	OMIM:105600
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Anemia	ORPHA:3204
Idiopathic Hypereosinophilic Syndrome	Anemia, Neutrophilia, Hepatosplenomegaly, Thrombocytosis, Eosinophilia, Myeloproliferative disord...	ORPHA:3260
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Congenital Disorder Of Glycosylation, Type Ia	Thrombocytosis	OMIM:212065
Idiopathic Pulmonary Arterial Hypertension	Chronic hemolytic anemia	ORPHA:275766
Mixed Connective Tissue Disease	Leukopenia, Splenomegaly, Hemolytic anemia	ORPHA:809
Methylmalonic Aciduria, Cbla Type	Anemia, Pancytopenia, Decreased methylmalonyl-CoA mutase activity, Thrombocytopenia, Neutropenia	OMIM:251100
Hereditary Leiomyomatosis And Renal Cell Cancer	Decreased fumarate hydratase activity, Uterine leiomyosarcoma, Cutaneous leiomyosarcoma	OMIM:150800
Tempi Syndrome	Increased hematocrit, Polycythemia	ORPHA:284227
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia	OMIM:616738
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly	ORPHA:90037
Aicardi-Goutieres Syndrome 9	Anemia, Hemolytic anemia, Hepatosplenomegaly	OMIM:619487
Pediatric Systemic Lupus Erythematosus	Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia, Lymphopenia	ORPHA:93552
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:618495
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Neutropenia, Splenomegaly	OMIM:615387
Abetalipoproteinemia	Acanthocytosis, Anemia, Reticulocytosis	ORPHA:14
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia	ORPHA:251004
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Impaired neutrophil...	ORPHA:811
Syndromic Diarrhea	Splenomegaly, Hypoplasia of the thymus, Lymphopenia, Thrombocytosis, Increased mean platelet volume	ORPHA:84064
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Trichohepatoenteric Syndrome 1	Thrombocytosis, Increased mean platelet volume, Splenomegaly	OMIM:222470
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology	ORPHA:2522
Diamond-Blackfan Anemia 10	Steroid-responsive anemia, Anemia, Macrocytic anemia, Reticulocytopenia	OMIM:613309
Abcd Syndrome	Polycythemia	OMIM:600501
Neuroleptic Malignant Syndrome	Thrombocytopenia, Thrombocytosis, Leukocytosis	ORPHA:94093
Wiskott-Aldrich Syndrome	Anemia, Hypoplasia of the thymus, Hemolytic anemia, Abnormal eosinophil morphology, Lymphopenia, ...	ORPHA:906
Pantothenate Kinase-Associated Neurodegeneration	Acanthocytosis	ORPHA:157850
Brucellosis	Leukopenia, Anemia, Hypersplenism, Thrombocytosis, Leukocytosis, Thrombocytopenia, Splenomegaly	ORPHA:1304
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Elliptocytosis, Anemia	OMIM:300990
Pearson Syndrome	Anemia, Reticulocytosis, Pancytopenia, Thrombocytopenia, Hypoplastic spleen, Neutropenia, Splenom...	ORPHA:699
Lead Poisoning	Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Anemia	ORPHA:330015
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Abnormal hemoglobin	ORPHA:847
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Thrombocytopenia, Splenomegaly	OMIM:263700
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Anemia	ORPHA:2668
Immunodeficiency 98 With Autoinflammation, X-Linked	B lymphocytopenia, Autoimmune hemolytic anemia, Hemophagocytosis, Thrombocytopenia, Neutropenia, ...	OMIM:301078
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:600901
Thymic Aplasia	Coombs-positive hemolytic anemia, Aplasia of the thymus, T lymphocytopenia, Decreased proportion ...	ORPHA:83471
Osteopetrosis With Renal Tubular Acidosis	Leukopenia, Anemia, Elliptocytosis, Pancytopenia, Thrombocytopenia	ORPHA:2785
Immunodeficiency 25	Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia	OMIM:610163
Glucagonoma	Acanthocytosis, Normochromic anemia	ORPHA:97280
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia, Hemolytic anemia	ORPHA:647
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:508542
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:301040
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia	OMIM:618398
Shigellosis	Leukocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Splenic abscess	ORPHA:810
Aicardi-Goutieres Syndrome 7	Anemia, Hemolytic anemia, Pancytopenia, Thrombocytopenia, Splenomegaly	OMIM:615846
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia	ORPHA:90033
Immunodeficiency 87 And Autoimmunity	Decreased CD4:CD8 ratio, Hemolytic anemia, Lymphopenia, Decreased proportion of CD4-positive T ce...	OMIM:619573
Hepatoerythropoietic Porphyria	Hemolytic anemia, Splenomegaly, Erythroid hyperplasia	ORPHA:95159
Wilson Disease	Hemolytic anemia, Thrombocytopenia, Splenomegaly, Anemia	OMIM:277900
Pearson Marrow-Pancreas Syndrome	Anemia, Reticulocytopenia, Refractory sideroblastic anemia, Sideroblastic anemia, Pancytopenia, T...	OMIM:557000
Bone Marrow Failure Syndrome 5	Anemia, Pure red cell aplasia, Erythroid hypoplasia	OMIM:618165
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Impaired neutrophil chemotaxis, Polycythemia, Impaired platelet aggregati...	ORPHA:2968
Marburg Hemorrhagic Fever	Leukopenia, Reticulocytosis, Lymphopenia, Neutrophilia in presence of infection, Thrombocytopenia...	ORPHA:99826
Neurodegeneration With Brain Iron Accumulation 1	Acanthocytosis	OMIM:234200
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methylmalonyl-CoA mutase activity, Thrombocytopenia, Neutropenia, Megaloblastic anemia	OMIM:277400
Hemochromatosis, Type 5	Anemia	OMIM:615517
Fanconi Anemia, Complementation Group C	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227645
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly	OMIM:619183
Distal Renal Tubular Acidosis	Hemolytic anemia	ORPHA:18
Infection-Related Hemolytic Uremic Syndrome	Thrombocytopenia, Hemolytic anemia, Leukocytosis	ORPHA:544482
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Doors Syndrome	Thrombocytosis	ORPHA:79500
Friedreich Ataxia	Decreased pyruvate carboxylase activity	OMIM:229300
Mitochondrial Dna-Associated Leigh Syndrome	Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers	ORPHA:255210
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Neutropenia, Leukemia	OMIM:227646
Choreoacanthocytosis	Abnormal erythrocyte enzyme level, Splenomegaly, Acanthocytosis	ORPHA:2388
Sarcoidosis	Leukopenia, Anemia, Hemolytic anemia, Increased T cell count, Eosinophilia, Thrombocytopenia	ORPHA:797
Kabuki Syndrome 1	Hemolytic anemia, Autoimmune thrombocytopenia	OMIM:147920
Eisenmenger Syndrome	Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia	ORPHA:97214
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Hemolytic anemia	OMIM:175780
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hemolytic anemia, Hepatosplenomegaly	OMIM:619503
Friedreich Ataxia 2	Decreased pyruvate carboxylase activity	OMIM:601992

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-a1

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-a1.

No publications found that use IMPC mice or data for Hba-a1.

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.

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