A case and review of Haemoglobin SE in the paediatric population.

Abstract

HbSE is a rare hemoglobinopathy with conflicting reports in the literature regarding potential complications. We report an 11-year old girl with HbSE disease and resultant bone infarction most likely due to vaso-occlusion. She had similar HbS and HbE levels as her sister, who has had no complications to date. We performed a literature review and identified a further 23 pediatric cases of Hemoglobin SE and although the majority of patients remained asymptomatic, up to 50% of children may suffer mostly vas-occlusive complications, some resulting in death. Infection and hyposplenism were uncommon. Further reports and case series of HbSE are needed to clarify the natural history of this rare hemoglobinopathy.