Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
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Abnormal erythrocyte morphology |
OMIM:250700 |
Acetophenetidin Sensitivity |
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Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Diamond-Blackfan Anemia-Like |
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Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin D Disease |
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Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
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Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Delta-Beta-Thalassemia |
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Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Transient Erythroblastopenia Of Childhood |
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Transient erythroblastopenia, Anemia |
OMIM:227050 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Hemoglobin H Disease |
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Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Diamond-Blackfan Anemia 13 |
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Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
Anemia, Sideroblastic, 4 |
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Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
Heinz Body Anemias |
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Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Hemoglobin E Disease |
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Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
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Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Woronets Trait |
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Red blood cell keratocytosis |
OMIM:194320 |
Diamond-Blackfan Anemia 3 |
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Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Congenital Amegakaryocytic Thrombocytopenia |
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Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
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Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
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Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
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Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
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Congenital hemolytic anemia |
OMIM:235370 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
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Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
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Hemolytic anemia |
OMIM:172150 |
Alpha-Thalassemia |
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Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
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Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Anemia, Sideroblastic, 1 |
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Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
Spherocytosis, Type 3 |
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Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Pyropoikilocytosis, Hereditary |
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Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Ovalocytosis, Southeast Asian |
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Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Iron-Refractory Iron Deficiency Anemia |
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Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Sickle Cell Anemia |
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Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Erythrocytosis, Familial, 3 |
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Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Erythrocytosis, Familial, 7 |
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Increased hematocrit, Polycythemia |
OMIM:617981 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Erythrocytosis, Familial, 6 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Erythrocytosis, Familial, 5 |
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Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Cryohydrocytosis |
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Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Red Cell Permeability Defect |
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Elliptocytosis |
OMIM:179650 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
Bone Marrow Failure Syndrome 6 |
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Neutropenia, Increased mean corpuscular volume, Anemia, Persistence of hemoglobin F, Lymphopenia |
OMIM:618849 |
Beta-Thalassemia |
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Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Hb Bart'S Hydrops Fetalis |
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Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Polycythemia, Methemoglobinemia |
OMIM:250800 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness |
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Reduced beta/alpha synthesis ratio |
OMIM:609057 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Beta-Thalassemia Intermedia |
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Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... |
ORPHA:231222 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Beta-Thalassemia Major |
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Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
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Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... |
ORPHA:231226 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Hereditary Methemoglobinemia |
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Methemoglobinemia |
ORPHA:621 |
Shwachman-Diamond Syndrome 1 |
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Neutropenia, Anemia, Persistence of hemoglobin F, Acute myeloid leukemia, Pancytopenia, Thrombocy... |
OMIM:260400 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
Thymoma |
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Leukemia, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Blackfan-Diamond Anemia |
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Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |
Lead Poisoning |
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Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
|
ORPHA:500150 |
Zttk Syndrome |
|
|
OMIM:617140 |