The Turkish Journal of Pediatrics 2020 , Vol 62 , Num 1
A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings
Seda Çakmaklı 1 ,Çiğdem Kaplan 2 ,Mehmet Uzunoğlu 2 ,Merve Büyükbayram 2 ,Emel Görgülü 2 ,Nurten Özkan Zarif 2 ,Ebru Yılmaz Keskin 3
1 Department of Medical Genetics, Necip Fazıl City Hospital, Kahramanmaraş, Turkey
2 Department of Pediatrics, Süleyman Demirel University Faculty of Medicine, Isparta, Turkey
3 Division of Pediatric Hematology and Oncology, Süleyman Demirel University Faculty of Medicine, Isparta, Turkey
DOI : 10.24953/turkjped.2020.01.014 Iron-refractory iron deficiency anemia (IRIDA) is an inherited iron metabolism disorder caused by mutations in TMPRSS6 gene encoding matriptase-2, which results in increased hepcidin synthesis. The hallmarks of the disease are hypochromic microcytic anemia, low transferrin saturation, slightly low or normal ferritin levels in contrast to classic iron deficiency anemia (IDA), inadequate response to oral iron, and only a partial response to parenteral iron. We report here a 6-year-old Syrian boy with unexplained microcytic anemia since one year of age. Genetic analysis of the TMPRSS6 gene revealed a novel homozygous nonsense mutation in exon 3 (c.234C>G; p.Y78* or p.Tyr78*). In the presence of hypochromic microcytic anemia accompanied by atypical iron parameters not in accordance with classic IDA, and inadequate response to iron therapy, IRIDA should be remembered in the differential diagnosis. Keywords : iron deficiency anemia, hepcidin, TMPRSS6, matriptase-2
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