hemoglobin H disease

An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other.

Signs and symptoms

• Reduced alpha/beta synthesis ratio
• HbH hemoglobin
• Hepatomegaly
• Hemolytic anemia
• Splenomegaly

Also known as: HBH; alpha thalassemia, haemoglobin H type; alpha thalassemia, hemoglobin H type; alpha-thalassemia intermedia; haemoglobin H disease