Profile of Hemoglobin D (hbd) Disease in Eastern Uttar Pradesh: A Single-Center Experience

Hemoglobin D (HbD) disease was identified in 31 samples from 15 families out of the 2560 samples (1.20%) analyzed for variant Hbs. There were five patients with HbSD disease, three with HbDβ disease, and the remaining 23 were HbD trait. Patients with HbSD disease had a variable clinical presentation with a pair of siblings being transfusion dependent although the age of first blood transfusion was different in the two patients. The one with high HbF started transfusions much later. None of them had symptoms related to sickling. Patients with HbDβ also had a variable presentation with only one of them being transfusion-dependent. All patients with HbSD and HbDβ disease were started on hydroxyurea. Persons with HbD trait were asymptomatic with half of them having normal Hb. The remaining half had mild microcytic hypochromic anemia. All the families with HbD disease were natives of this region and not migrants from other states. Although HbD disease has not been reported from this region in previous studies, clinicians need to be aware of this entity as it can give rise to symptomatic disease in some cases if associated with beta-thalassemia or sickle cell trait.