| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
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| HP:0000980 | Pallor | |
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| HP:0001639 | Hypertrophic cardiomyopathy | |
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| HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| HP:0001789 | Hydrops fetalis | |
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| HP:0001903 | Anemia | |
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| HP:0001923 | Reticulocytosis | |
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| HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| HP:0002904 | Hyperbilirubinemia | |
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| HP:0003330 | Abnormal bone laboratory examination | |
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| HP:0003577 | Onset at birth | |
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| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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| HP:0010971 | Absence of Lutheran antigen on erythrocytes | "Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the sruface of red blood cells." [HPO:probinson] |
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| HP:0010972 | Anemia of inadequate production | "A kind of `anemia` (HP:0001903) characterized by inadequate production of erythrocytes." [HPO:probinson] |
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| HP:0011904 | Persistence of hemoglobin F | "Hemoglobin F (HbF) contains two globin alpha chains and two globin gamma chains. It is the main form of hemoglobin in the fetus during the last seven months of intrauterine development and in the half year of postnatal life. In adults it normally makes up less than one percent of all hemoglobiin. This term refers to an increase in HbF above this limit. In beta thalassemia major, it may represent over 90 percent of all hemoglobin, and in beta thalassemia minor it may make up between 0.5 to 4 percent." [HPO:probinson] |
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| HP:0012132 | Erythroid hyperplasia | "Increased count of erythroid precursor cells, that is, `erythroid lineage cells` (CL:0000764) in the bone marrow." [DDD:akelly] |
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