Identification of Delta-beta Thalassemia in a Family with Elevated Hb F: A Case Report

Abstract

Delta-beta Thalassemia is a rare variant of thalassemia with elevated Hb F. Heterozygous and homozygous state of delta-beta thalassemia present with features similar to Hereditary Persistence of Fetal Haemoglobin (HPFH) and beta thalassemia intermedia. Here, we describe a case of 8-month-old female child with anaemia and splenomegaly. Haemoglobin electrophoresis showed 100% HbF and no HbA and HbA2. Patient was put on haematinics and advised a repeat haemoglobin electrophoresis after completion of 1 year of age, and family screening. Hb electrophoresis of the patient at the age of 2 years mirrored the earlier findings and her father, mother and brother showed increased Hb F with normal HbA2 levels. A final diagnosis of homozygous delta-beta thalassemia in the case with sibling and parents being heterozygous delta-beta thalassemia trait was rendered. Haemoglobin electrophoresis with red cell indices forms an important diagnostic clue in differentiating delta-beta thalassemia from other thalassemia syndromes

Keywords

• haemoglobin electrophoresis
• delta-beta thalassemia
• foetal haemoglobin
• anaemia
• rbc indices