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 reoccurrence of several alleles in different populations.
SLC25A38 Congenital Sideroblastic Anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature
