Guillem Flavia, Lawson Sarah, Kannengiesser Caroline, Westerman Mark, Beaumont Carole, Grandchamp Bernard
Assistance Publique des Hôpitaux de Paris (APHP), Laboratoire de Génétique et Biochimie Hormonale, Hôpital Bichat, Paris, France.
Blood. 2008 Sep 1;112(5):2089-91. doi: 10.1182/blood-2008-05-154740. Epub 2008 Jul 2.
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.
低色素小细胞性贫血的遗传病因包括地中海贫血和一些罕见的遗传性疾病，如二价金属离子转运体1（DMT1）缺乏症。在此，我们表明，伴有肠道吸收不良和静脉铁剂利用缺陷的缺铁性贫血是由跨膜丝氨酸蛋白酶6（TMPRSS6）的遗传性突变所致，TMPRSS6是一种在肝脏表达的基因，编码一种膜结合丝氨酸蛋白酶，其作用此前未知，最近报道它是铁调素表达的调节因子。
