Conditions / Genetic
autosomal dominant beta thalassemia
info · Genetic
A beta thalassemia that has_material_basis_in one dominantly inherited mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia.
Signs and symptoms
- Persistence of hemoglobin F
- Hepatomegaly
- Increased HbA2 hemoglobin
- Decreased mean corpuscular hemoglobin concentration
- Microcytic anemia
- Splenomegaly
- Erythrocyte inclusion bodies
Also known as: inclusion body beta-thalassemia