Coexistence of Hemoglobin E Beta Thalassemia and Southeast Asian Ovalocytosis & RBC Changes Conferring Malarial Protection

Abstract

RBC changes that are known to confer protection against malarial infection affect the haemoglobin, RBC membrane or the enzymes. The most common defect is thalassemia/ haemoglobinopathy which is the most prevalent genetic disorder in the world. Coexistence of different types of thalassemia/ haemoglobinopathy has produced variable clinical presentations. We present a family with two offsprings diagnosed as Hb E Beta Thalassemia and SEA Ovalocytosis (SAO), presenting with severe anaemia and other clinical symptoms. The thalassemia syndrome, SAO, clinical presentation and laboratory results are discussed. Coexistence of multiple RBC changes are not common and this is believed to be the first of such cases reported.