Sickle-β+ thalassemia with splenic calcification and bone marrow infarction: a case report

摘要

We came across an unusual case of a 20 yearsrnold male from north India who presented with repeatedrnepisodes of pyrexia of unknown origin (PUO) and historyrnof chronic hemolytic anemia. On investigation he wasrndetected to have Sickle-β+ Thalassemia and subtle featuresrnof hyposplenism. Radiological investigations revealed extensivernsplenic calcifi cation and bone marrow examinationrnto evaluate for PUO showed extensive bone marrow infarctionrnand fi brosis. Molecular diagnosis for beta thalassemiarnmutation revealed heterozygosity for IVS 1-5 M and alpharnglobin genes were normal. This case highlights the widernvariation of clinical phenotype which is encountered withrnSickle-β+ Thalassemia where genotyping can predict thernclinical phenotype only partially.