Mutation Analysis in Iron Deficiency Anemia of Undeterminable Etiology

• Published in: Namık Kemal tıp dergisi Vol. 4; no. 3; pp. 134 - 143
• Main Authors: Banu Çiçek Yalçın Dulundu, Burhan Turgut
• Format: Journal Article
• Language: English
• Published: Galenos Yayincilik 01.12.2016
• Subjects: ida; iron deficiency anemia; tmprss6
• ISSN: 2587-0262

Iron deficiency is the main cause of anemia worldwide. Iron deficiency anemia (IDA) occurs under such conditions as insufficient intake (when requirements increase or under normal conditions) or when losses cannot be met by intake. IDA may also rarely be seen in rare situations such as when absorbance is insufficient or in the presence of specific gene defects. Iron deficiency generally occurs in the event of increased losses by physiological routes, such as menstruation, and is therefore more common in women. The etiology in an adult male or postmenopausal woman is frequently gastrointestinal bleeding. A tumoral formation in the gastrointestinal system is usually present in the etiology of such bleeding. In etiological terms, if a cause cannot be identified with routine screening, then rare causes must be considered, including hematuria, hemosiderosis, celiac disease, pica, and genetic disorder affecting iron use. In this study we screened 455 patients meeting the criteria for iron deficiency. IDA that failed to respond to iron therapy and that recurred after treatment was identified in 10 of these patients. Sequencing analysis using the Sanger method was performed on the 13th exon of gene TMPRSS6, which encodes the protein matriptase-2, in 10 patients in whom no etiology could be determined despite all investigations. Although mutation in the TMPRSS6 gene was not observed in these cases, single-gene polymorphism was observed in some patients. Single gene polymorphisms in TMPRSS6 are common in society and are known to play a role in the development of IDA. Single D521D gene mutation was observed in five of the 10 individuals we selected.