Article
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Human mutation - 1 Nov 2021
Heeney Matthew M, Berhe Simon, Campagna Dean R, Oved Joseph H, Kurre Peter, Shaw Peter J, Teo Juliana, Shanap Mayada A, Hassab Hoda M, Glader Bertil E, Shah Sanjay, Yoshimi Ayami, Ameri Afshin, Antin Joseph H, Boudreaux Jeanne, Briones Michael, Dickerson Kathryn E, Fernandez Conrad V, Farah Roula, Hasle Henrik, Keel Sioban B, Olson Timothy S, Powers Jacquelyn M, Rose Melissa J, Shimamura Akiko, Bottomley Sylvia S, Fleming Mark D
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...
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