Mutations in the Hereditary Hemochromatosis Gene Are Not Associated With the Increased Body Iron Stores Observed in Overweight and Obese Women With Polycystic Ovary Syndrome
- José I. Botella-Carretero, MD, PHD1,
- Manuel Luque-Ramírez, MD1,
- Francisco Álvarez-Blasco, MD1,
- José L. San Millán, PHD2 and
- Héctor F. Escobar-Morreale, MD, PHD1
- 1Department of Endocrinology, Hospital Ramón y Cajal, Madrid, Spain
- 2Department of Molecular Genetics, Hospital Ramón y Cajal, Madrid, Spain
- Address correspondence to Héctor F. Escobar-Morreale, Department of Endocrinology, Hospital Ramón y Cajal, Carretera de Colmenar km 9′1, Madrid E-28034, Spain. E-mail: hescobarm.hrc{at}salud.madrid.org
We recently reported (1) that serum ferritin levels are increased in overweight and obese women with polycystic ovary syndrome (PCOS) independently of inflammation. This finding suggested increased body iron stores in these women, raising the possibility that genes related to iron metabolism are altered in PCOS.
Classic hereditary hemochromatosis is an autosomal recessive disorder caused by mutations in the HFE gene, resulting in increased intestinal iron absorption and iron accumulation in several organs. In the study by Sanchez et al. (2), >80% of the Spanish patients with hereditary hemochromatosis were homozygous for the HFE C282Y mutation or compound heterozygotes for the HFE C282Y and …
