Haemoglobin E-beta Thalassaemia in Singapore.

Medical History Twenty patients (36%) had a splenectomy. Fourteen (25%) patients had developed gallstones and 7 had a cholecystectomy performed. Other medical complications of disease and iron overload are summarised in Table 1. In addition, 21 out of the 55 patients had a MRI T2* of the heart and liver performed. None had iron loading in the heart. Twenty (98%) patients had evidence of iron loading in the liver. Out of the 20 patients with iron loading in the liver, 7 did not have regular blood transfusions. Dear Editor, Haemoglobin E-beta thalassaemia (Hb E/β-thalassaemia) is a common cause of thalassaemia major in Southeast Asia. In Singapore, the prevalence of beta thalassaemia (β-thalassaemia) trait is 0.9% and haemoglobin E (HbE) trait is 0.55% .1 This is especially high in the Malay ethnic group. According to the National Thalassaemia Registry, the Malay population accounts for 74% of the registered subjects with Hb E/β-thalassaemia. The clinical and haematological parameters of patients with Hb E/β-thalassaemia are widely disparate, ranging from asymptomatic to severe, life-threatening anemia requiring regular blood transfusions. Its phenotypic variability makes it diffi cult to predict the course of the disease, especially in the prenatal setting. Several factors have been suggested to infl uence the severity of disease. Genetic factors include the genotype of β-thalassaemia,2 the presence of concomitant alpha thalassaemia (α-thalassemia) and the presence of polymorphism associated with increased foetal haemoglobin (HbF). Environmental infl uences such as the presence of anti-malarial antibodies have also been implicated.3 The aim of this study is to conduct a retrospective case analysis of Hb E/β-thalassaemia cases in our local population.