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 Blood, 15 April 2007, Vol. 109, No. 8, pp. 3567-3569.
Prepublished online as a Blood First Edition Paper on December 27, 2006; DOI 10.1182/blood-2006-04-015768.

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RED CELLS

Brief Report

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

Corinne Pondarre1, Dean R. Campagna1, Brendan Antiochos1, Lindsay Sikorski1, Howard Mulhern1, and Mark D. Fleming1,2

1 Department of Pathology, Children's Hospital Boston, and 2 Harvard Medical School, Boston, MA

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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