Does extramedullary haematopoiesis correlate with genotype and absence of cardiac iron overload in polytransfused adults with thalassaemia?
Among our cohort of thalassaemic polytransfused patients, extramedullary haematopoiesis was not such a rare event. Furthermore, we identified a group of patients, most of whom were compound heterozygotes for IVS 1-6/codon 39, with increased soluble transferrin receptor levels and excessive expansion of erythroid marrow probably responsible for the tendency to develop extramedullary haematopoiesis.
Future sequencing efforts should focus on these regions because they may harbor familial LOAD causative mutations.