A genetic cause for iron deficiency( The discovery of a gene for a rare f...)

The discovery of a gene for a rare form of inherited iron deficiency may provide clues to iron deficiency in the general population particularly iron deficiency that doesnt respond to iron supplements - and suggests a new treatment approach. The finding was published online by the journal Nature Genetics on April 13.

Iron deficiency is the most common nutritional deficiency and the leading cause of anemia in the United States.(1) Most cases are easily reversed with oral iron supplements, but over the years, Mark Fleming, MD, DPhil, interim Pathologist-in-Chief at Childrens Hospital Boston, and pediatric hematologist Nancy Andrews, MD, PhD, formerly of Childrens and now Dean of Duke University School of Medicine, had been referred a number of children with iron deficiency anemia who didnt respond to oral supplements, and only poorly to intravenous iron.

The cause of their condition termed iron-refractory iron-deficiency anemia (IRIDA) was a mystery. The children all had good diets, and none had any condition that might interfere with iron absorption or cause chronic blood loss, the most common causes of iron deficiency. All had evidence of anemia from a very early age, and many also had siblings with iron deficiency anemia. Seeing reports of several similarly afflicted families in the medical literature, Fleming and Andrews were convinced that genetics was a factor.

After nearly 15 years, we finally had enough families that we could begin to think about positionally cloning the gene for the disorder, says Fleming.

Fleming and Andrews, experts in iron metabolism, and their colleagues Karin Finberg, MD, PhD, and Matthew Heeney, MD, studied five extended families with more than one chronically iron-deficient member. They found a variety of mutations in a gene called TMPRSS6 (the acronym stands for transmembrane serine protease S6) in all of these families, as well as several patients without a family history of the disorder.
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