Recurrent Pallor in a 3-Year-Old Girl: A Rare Case of Co-Inherited Hemoglobin S and Hemoglobin D-Punjab

Abstract

Haemoglobinopathies represent a major genetic health burden in South Asia, including Bangladesh, due to high carrier frequency and lack of systematic screening program. While Hb E and b-thalassemia are most prevalent in Bangladesh, rare variants such as haemoglobin D-Punjab are under-recognised. Hb D-Punjab trait is usually clinically silent, but co-inheritance with haemoglobin S can cause significant haemolysis. We report a 3-year-4-month-old girl from Bangladesh presenting with recurrent pallor since infancy, requiring multiple transfusions. Laboratory investigations revealed haemolytic anaemia, indirect hyperbilirubinaemia, high reticulocytosis, hepatosplenomegaly, and a positive sickling test. Hb electrophoresis confirmed Hb S/D-Punjab disease. Family screening revealed the mother is Hb S trait and father Hb D trait, while the sibling carried Hb S trait. She was managed with multiple transfusion, antibiotic, folate, zinc, and hydroxyurea. This case underscores the importance of considering compound haemoglobinopathies in children with recurrent haemolysis in Bangladesh and highlights the need for improved diagnostic and preventive strategies.

 J Dhaka Med Coll. 2025; 34(2) : 136-139