Detection of Compound Heterozygous Sickle Cell-b+ Thalassaemia in a Patient with Extreme Weakness, Mild Jaundice and Moderate Anaemia - A Case Report

Abstract

A 16-year-old female complained of extreme weakness. She had moderate anaemia; her Haemoglobin (Hb) was 7.7 gm/dl. Peripheral blood smear showed few sickled red cells. Sickle cell test was positive. High-Performance Liquid Chromatography (HPLC) revealed elevated levels of HbS (38.4%) and HbF (15.7%). In addition, HbA2 concentration was 3.8% and HbA concentration was 42.1%. Results suggested a diagnosis of compound heterozygous sickle cell-β+thalassaemia. Sickle cell test was also positive with blood of patient’s brother; Hb HPLC examination showed relatively low concentration of HbS (25.2%) suggesting a diagnosis of sickle cell trait. Chromatogram of patient’s step sister suggested a diagnosis of thalassaemia trait. Findings of this study suggested that abnormal genes were inherited in the patient from both the parents. It was interpreted that repeated haemolysis in the patient might have contributed to anaemia, weakness, rise in indirect bilirubin and jaundice. Furthermore, high level of HbF (>12%) may interfere with polymerization of sickle haemoglobin suggesting beneficial effects of HbF-inducing agents which may inhibit sickling.

Keywords

• bilirubin
• defective globin chain synthesis
• gene
• high-performance liquid chromatography