Diagnosing delta-beta thalassaemia in a resource poor setting

Abstract

An eight-year-old girl presented with mild scleral icterus, pallor and hepatosplenomegaly. Her preliminary investigations revealed low haemo-globin (Hb) (94g/L), high reticulocyte count (3.5%), normal total bilirubin level and normal liver function tests. Her blood picture revealed evidence of chronic haemolysis. High perfor-mance liquid chromatography (HPLC) revealed markedly raised Hb-F (98.3%). Capillary electro-phoresis revealed Hb-F of 99.2%. Acid elution test (Kleihauer test) showed pan-cellular distribution of Hb-F. Her parents were first cousins. Her mother’s profile showed thalassaemic red cell indices with normal Hb-A2 and high Hb-F (13.3%). The father was not available for screening. The paternal grandmother’s HPLC showed normal Hb-A2 and high Hb-F (6.8%). Based on clinical and laboratory findings and family screening results, the child was diagnosed as homozygous delta-beta (αβ)-thalassaemia presenting as thalassaemia intermedia.