Phenotypes associated with the disease hemoglobin H disease (OMIM:613978):
- Reduced alpha/beta synthesis ratio (HP:0011907): A reduction in the ratio of production of alpha globin to that of beta globin. This is the major abnormality in the various forms of alpha thalassemia. Evidence: TAS. (OMIM:613978)
- HbH hemoglobin (HP:0011903): Hemoglobin H (HbH) contains four beta-globin chains. It is normally not present at all in blood, but may make up about 1-40 percent of all hemoglobin in HbH disease, a subform of alpha thalassemia. Evidence: IEA. (OMIM:613978)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. (OMIM:613978)
- Hemolytic anemia (HP:0001878): A type of anemia caused by premature destruction of red blood cells (hemolysis). Evidence: TAS. (OMIM:613978)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. (OMIM:613978)