High Performance Liquid Chromatography (HPLC): An Essential Tool for Diagnosis of Compound Heterozygous Form (HbSD) of Hemoglobin-D (HbD) with Hemoglobin-S (HbS)

Abstract

Hemoglobinopathies are group of disorders that are inherited resulting in increase morbidity and mortality among the affected individuals. Many deaths have been reported because of these disorders. Compound heterozygous form of Hemoglobin-D (HbD) with Sickle Cell Disease (SCD) is very rarely found in Indians. Here, we present the clinical and laboratory findings of such a rare case. Blood samples from a 43-year-old Muslim woman were taken and blood investigations including High performance liquid chromatography (HPLC), Complete Blood Count (CBC), Peripheral Blood Smear (PBS) were done. CBC showed presence of anemia with Hemoglobin (Hb) of 3.9 gm/dl which showed moderate hypochromic picture with reduced Red Blood Cell (RBC) mass. HPLC was performed on BioRad-D10 machine and two peaks were obtained; one for HbD and another for Hemoglobin-S (HbS). This showed the presence of compound heterozygous for HbS-D. Compound heterozygous form of HbD with HbS is a rare disorder. The clinical manifestations occurring in such patients can be serious; so early detection through HPLC of the patients having anemia is necessary for prompt management. Also genetic counseling should be advised in the patients presenting with such anemia.

Keywords

• compound heterozygous hbd-hbs
• hplc