Hemoglobin D Disease |
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Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Hepatomegaly, Anemia, Abnormal bone structure, Persistence of hemoglobin F, Splenomegaly |
ORPHA:46532 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Decreased skull ossification, Thrombocytopenia, Abnormal hemoglobin, Abnormal cardiac sep... |
ORPHA:3319 |
Hemoglobin H Disease |
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HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia |
OMIM:613978 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... |
OMIM:603902 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
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 E Disease |
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Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
Delta-Beta-Thalassemia |
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Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Acetophenetidin Sensitivity |
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Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Cyanosis, Transient Neonatal |
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Hepatomegaly, Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
Beta-Thalassemia |
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Reduced bone mineral density, Anemia, Hepatomegaly, Hypertrophic cardiomyopathy, Thrombocytopenia... |
ORPHA:848 |
Erythrocytosis, Familial, 8 |
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Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... |
OMIM:222800 |
Bone Marrow Failure Syndrome 6 |
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Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... |
OMIM:618849 |
Diamond-Blackfan Anemia 3 |
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Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Reduced hematocrit, Anemia, Hepatomegaly, Anemia of inadequate production, Persistence of hemoglo... |
OMIM:613673 |
Alpha-Thalassemia |
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Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Pericardial effusion, Hepatosplen... |
ORPHA:846 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Polycythemia, Tremor, Opisthotonus, Methemoglobinemia |
OMIM:250800 |
Polycythemia Vera |
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Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... |
OMIM:263300 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anisopoikilocytosis, Anemia, Myelofibrosis, Thrombocytopenia, Splenomegaly |
OMIM:617441 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Erythrocytosis, Familial, 5 |
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Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617907 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Perimembranous ventricular septal defect, Anemia, Hypertrophic cardiomyopathy, Cardiomegaly, Atri... |
OMIM:620135 |
Erythrocytosis, Familial, 7 |
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Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
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Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:617980 |
Beta-Thalassemia Intermedia |
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Osteopenia, Reduced bone mineral density, Hepatomegaly, Anemia of inadequate production, Leukocyt... |
ORPHA:231222 |
Erythrocytosis, Familial, 4 |
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Polycythemia, Increased circulating hemoglobin concentration, Increased hematocrit |
OMIM:611783 |
Diamond-Blackfan Anemia 6 |
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Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem... |
OMIM:612561 |
Erythrocytosis, Familial, 3 |
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Increased circulating hemoglobin concentration, Increased red blood cell mass, Increased hematocrit |
OMIM:609820 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Trichothiodystrophy 6, Nonphotosensitive |
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Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, Decreased me... |
OMIM:616943 |
Dehydrated Hereditary Stomatocytosis |
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Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula... |
ORPHA:3202 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Cardiomegaly, Craniosynostosis |
ORPHA:88643 |
Sickle Cell Anemia |
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Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
Hereditary Methemoglobinemia |
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Athetosis, Limb dystonia, Methemoglobinemia |
ORPHA:621 |
Beta-Thalassemia Major |
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Anisopoikilocytosis, Hepatomegaly, Hypochromic microcytic anemia, Decreased mean corpuscular hemo... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
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Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration, Persistence o... |
ORPHA:231226 |
Ziegler-Huang Syndrome |
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Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
Shwachman-Diamond Syndrome 1 |
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Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification at anterior ri... |
OMIM:260400 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Cardiomegaly, Anemia |
OMIM:618838 |
Sickle Cell Disease |
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Hepatomegaly, Splenic infarction, Leukocytosis, Target cells, Splenomegaly, Cardiomegaly, Increas... |
OMIM:603903 |
Attrv122I Amyloidosis |
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Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... |
ORPHA:85451 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Chronic hemolytic anemia, Hepatomegaly, Ventricular hypertrophy, Leukocytosis, Reticulocytosis, P... |
OMIM:618278 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Reduced bone mineral density, Anemia, Acute myeloid leukemia, Pancytopenia, Incr... |
OMIM:617052 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
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Atrial septal defect, Ventricular septal defect, Persistence of hemoglobin F |
OMIM:619769 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Diamond-Blackfan Anemia |
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Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Lead Poisoning |
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Abnormal T cell morphology, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
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Persistence of hemoglobin F |
OMIM:617101 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Thymoma |
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Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
Diamond-Blackfan Anemia 1 |
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Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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HbH hemoglobin, Perimembranous ventricular septal defect, Hypochromic microcytic anemia, Reduced ... |
OMIM:301040 |
Alkaptonuria |
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Reduced bone mineral density, Abnormal heart valve morphology, Mitral valve calcification, Aortic... |
ORPHA:56 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:847 |