Article

SLC25A38 Congenital Sideroblastic Anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature

2021-02-04

Abstract excerpt

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 clini...

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Literature Corpus work: fb7d2a7e-a8e9-5dd1-824f-fb17f1dfe9dc
DOI: 10.22541/au.161244027.72766594/v1

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