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 Blood, 1 September 2008, Vol. 112, No. 5, pp. 2089-2091.
Prepublished online as a Blood First Edition Paper on July 2, 2008; DOI 10.1182/blood-2008-05-154740.

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RED CELLS

Brief Report

Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency

Flavia Guillem1, Sarah Lawson2, Caroline Kannengiesser1, Mark Westerman3, Carole Beaumont4, and Bernard Grandchamp1,4

1 Assistance Publique des Hôpitaux de Paris (APHP), Laboratoire de Génétique et Biochimie Hormonale, Hôpital Bichat, Paris, France; 2 Department of Clinical and Biological Haematology, Birmingham Children's Hospital, Birmingham, United Kingdom; 3 Intrinsic LifeSciences, La Jolla, CA; and 4 Inserm U773, Centre de Recherche Biomédicale Bichat-Beaujon (CRB3), Université Paris Diderot, site Bichat, Paris, France

Genetic causes of hypochromic microcytic anemia include thalassemias and some rare inherited diseases such as DMT1 deficiency. Here, we show that iron deficiency anemia with poor intestinal absorption and defective iron utilization of IV iron is caused by inherited mutations in TMPRSS6, a liver-expressed gene that encodes a membrane-bound serine protease of previously unknown role that was recently reported to be a regulator of hepcidin expression.


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