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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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Submitted April 7, 2006
Accepted August 15, 2006

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

Corinne Pondarre, Dean R Campagna, Brendan Antiochos, Lindsay Sikorski, Howard Mulhern, and Mark D Fleming*

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

* Corresponding author; email: mark.fleming{at}childrens.harvard.edu.

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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