SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature
Matthew M. Heeney, Simon Berhe, Dean R. Campagna, Joseph H. Oved, Peter Kurre, Peter J. Shaw, Juliana Teo, Mayada Abu Shanap, Hoda Hassab, Bertil Glader, Sanjay Shah, Ayami Yoshimi, Afshin Ameri, Joseph H. Antin, Jeanne Boudreaux, Michael Briones, Kathryn E. Dickerson, Conrad V. Fernandez, Roula Farah, Henrik Hasle, Sioḃán Keel, Timothy S. Olson, Jacquelyn M. Powers, Melissa J. Rose, Akiko Shimamura, Sylvia S. Bottomley, Mark D. Fleming
Abstract
The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders of erythropoiesis characterized by pathologic deposits of iron in the mitochondria of developing erythroblasts. Mutations in the mitochondrial glycine carrier SLC25A38 cause the most common recessive form of CSA. Nonetheless, the disease is still rare, there being fewer than 70 reported families. Here we describe the clinical phenotype and genotypes of 31 individuals from 24 families, including 11 novel mutations. We also review the spectrum of reported mutations and genotypes associated with the disease, describe the unique localization of missense mutations in transmembrane domains and account for the presence of several alleles in different populations.