Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia.

ABSTRACT:

Background

Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome. The most common cause of non-syndromic, microcytic sideroblastic anemia is a defect in the X-linked 5-aminolevulinate synthase 2 gene but this is not always present. Recently, variations in the gene for the mitochondrial carrier SLC25A38 were reported to cause a non-syndromic, severe type of autosomal-recessive sideroblastic anemia. Further evaluation of the importance of this gene was required to estimate the proportion of patients affected and to gain further insight into the range and types of variations involved.

Design and methods

In three European diag

SUBMITTER: Kannengiesser C 

PROVIDER: S-EPMC3105641 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature