Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification |
ORPHA:3319 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Thrombocytopenia, Increased mean corpuscular volume |
OMIM:252270 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Retic... |
OMIM:616689 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular hemoglobin concentration, Congenital hemolytic anemia, Hemolytic anemi... |
ORPHA:3202 |
Sickle Cell Anemia |
|
Osteomyelitis, Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Chronic hemolytic ... |
ORPHA:232 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ... |
OMIM:618849 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic anemia, Megalo... |
OMIM:261000 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Episodic hemolytic anemia, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Anemia of inadequate production, Erythroid hyperplasia, Reticulocytosis |
OMIM:237800 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
T-cell acute lymphoblastic leukemias, Pancytopenia, Increased mean corpuscular volume |
OMIM:620044 |
Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Radioulnar synostosis, Abnormality of neutrophils |
ORPHA:2760 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, O... |
OMIM:611490 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
Beta-Thalassemia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Reduced bone mine... |
ORPHA:848 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... |
OMIM:231095 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:224100 |
Elliptocytosis 2 |
|
Elliptocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... |
ORPHA:98870 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:612653 |
Poems Syndrome |
|
Sclerosis of foot bone, Polycythemia, Thrombocytosis, Sclerosis of hand bone, Sclerosis of skull ... |
ORPHA:2905 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Generalized os... |
ORPHA:210110 |
Glycogen Storage Disease Vii |
|
Gout, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Reticulocytosis |
OMIM:232800 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly |
OMIM:617441 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia, Pancytopenia |
OMIM:613839 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Rickets |
OMIM:611590 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Spherocytosis |
OMIM:182900 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenomegaly, Normochromic a... |
OMIM:235700 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185000 |
Beta-Thalassemia Intermedia |
|
Increased susceptibility to fractures, Increased HbA2 hemoglobin, Erythroid hyperplasia, Hepatosp... |
ORPHA:231222 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
Livedoid Vasculopathy |
|
Leukocytosis, Anemia, Polycythemia, Pancytopenia |
ORPHA:542643 |
Fumarase Deficiency |
|
Polycythemia |
OMIM:606812 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Osteoporosis |
ORPHA:2169 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Macrocytic anemia, Increased mean corpuscular volume, Neutropenia, Osteoporosis |
OMIM:612562 |
Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:300653 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hemolytic ane... |
OMIM:266200 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytopenia, Aplastic an... |
OMIM:127550 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Reticulocytosis, P... |
ORPHA:288 |
Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis |
ORPHA:54057 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
Sitosterolemia 1 |
|
Stomatocytosis, Anemia, Arthritis, Reticulocytosis, Episodic hemolytic anemia, Chronic hemolytic ... |
OMIM:210250 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... |
ORPHA:71275 |
Hepatocellular Carcinoma |
|
Thrombocytosis, Thrombocytopenia, Polycythemia, Anemia |
ORPHA:88673 |
Harderoporphyria |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:618892 |
Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
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 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Flexion contracture, Microcytic anemia |
ORPHA:98791 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Polycythemia, Splenomegaly |
ORPHA:309854 |
Shwachman-Diamond Syndrome |
|
Acute myeloid leukemia, Chronic neutropenia, Leukopenia, Anemia, Neutropenia, Osteomyelitis, Impa... |
ORPHA:811 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Reticu... |
ORPHA:822 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Dominant Beta-Thalassemia |
|
Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased mean corpuscular hemoglobin c... |
ORPHA:231214 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Joint hypermobility, Persistence of hemoglobin F |
OMIM:617101 |
Ogden Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Polycythemia |
OMIM:300855 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Pancytopenia, Persis... |
OMIM:260400 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Osteomyelitis, Impaired neutrophil chemotaxis, Coronal craniosynostosis, ... |
ORPHA:2968 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Von Hippel-Lindau Disease |
|
Polycythemia |
ORPHA:892 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Thymoma |
|
Leukemia, Rheumatoid arthritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell a... |
ORPHA:99867 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:274150 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Thrombocytopenia, Schistocytosis, Microangiopathic hemolytic anemia, Reticulocytosis |
OMIM:235400 |
Beckwith-Wiedemann Syndrome |
|
Polycythemia, Splenomegaly |
ORPHA:116 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Cranial hyperostosis, Abnormal T cell morphology, Anemia |
ORPHA:330015 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Flexion contracture, Abnormal hemoglobin, Joint stiffness |
ORPHA:847 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... |
OMIM:618278 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Anemia, Polycythemia |
OMIM:600376 |
Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
Congenital Erythropoietic Porphyria |
|
Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... |
ORPHA:79277 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Anemia, Polycythemia |
OMIM:187300 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, Leukocytosis, Thrombocytopenia |
ORPHA:90038 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Leukopenia, Anemia, Hemolytic anemia, Abnormal erythrocyte enzyme level, Erythroid hyperplasia, R... |
ORPHA:447 |
Eisenmenger Syndrome |
|
Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia |
ORPHA:97214 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
|
OMIM:210210 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
|
ORPHA:6 |