Clinical Characterization of a Novel Mutation in SLC25A38 Resulting in Congenital Sideroblastic Anemia in a Canadian First Nations Population

Conclusions: A novel founder mutation in SLC25A38 causing CSA among individuals of Canadian First Nations Northern Cree descent results in a severe transfusion-dependent anemia. Despite a common genetic etiology, phenotypic variability was noted, with one individual having marked tolerance to anemia. A partial transient response to pyridoxine was noted in two individuals, raising the question of an alternative role for SLC25A38 in heme biosynthesis. HSCT, when performed before significant iron overloading, was beneficial. Characterization of this phenotype and evidence of successful HSCT may assist clinicians in identifying affected individuals with CSA and initiating timely and effective treatment.DisclosuresNo relevant conflicts of interest to declare.

Source: Blood - November 21, 2018 Category: Hematology Authors: Uminski, K., Houston, D. S., Hartley, J., Cuvelier, G., Israels, S. J. Tags: 101. Red Cells and Erythropoiesis, Structure and Function, Metabolism, and Survival, Excluding Iron: Poster I Source Type: research