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Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis

Corinne Pondarre1, Dean R Campagna, Brendan Antiochos

  • 1Department of Pathology, Children's Hospital Boston, 320 Longwood Avenue, Boston, MA 02115, USA.

Blood
|December 29, 2006
PubMed

X-linked sideroblastic anemia with ataxia (XLSA/A) is a rare syndromic form of inherited sideroblastic anemia associated with spinocerebellar ataxia, and is due to mutations in the mitochondrial ATP-binding cassette transporter Abcb7. Here, we show that Abcb7 is essential for hematopoiesis and formally demonstrate that XLSA/A is due to partial loss of function mutations in Abcb7 that directly or indirectly inhibit heme biosynthesis.

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