Dealing with Rare Beta Chain Hb Variants – Diagnostic Dilemmas

Abstract

The diagnosis of inheritance of Hb Hope [b136(H14)Gly ? Asp, GGT[GAT] by high performance liquid chromatography (HPLC) is difficult because Hb Hope has a HPLC elution pattern similar to that of Hb Pyrgos, Hb New York, Hb Kodaira, and Hb Phimai. This variant hemoglobin (Hb) is mildly unstable and has reduced oxygen affinity, but is generally innocuous clinically. We report the use of a capillary electrophoresis (CE) for diagnosis of a rare beta chain variant Hb Hope in two young female patients of Indian origin and mild normocytic anaemia. Hb Hope eluted with a retention time of 125–140 s (Zone 10) of CE electrophoregram. Thus, the CE method provides an accurate diagnosis of Hb Hope which is useful in genetic counseling, prevention and control programs for these hemoglobinopathies.