Novel Pathogenic Variants of TMPRSS6 Gene in a Girl with Iron Refractory
Iron Deficiency Anemia (IRIDA)
Abstract
Iron refractory iron deficiency anemia (IRIDA) is an autosomal recessive
disorder caused by mutations in the TMPRSS6 gene, which impairs iron
homeostasis. We report a 4-year-old girl presented with a one-year
history of IDA. Hemoglobin, transferrin saturation, and hepcidin levels
were 6.5 g/dL, 1.6%, and 112.17 ng/mL, respectively. High-dose oral
iron therapy partially corrected hemoglobin levels, and they declined
after decreasing or stopping iron therapy. Genetic analysis of the
TMPRSS6 gene identified compound heterozygotes of two novel pathogenic
variants of c.811C>T in exon 7 (p.R271X) and
c.1254C>G in exon 11 (p.Y418X). Her parents carried a
heterozygous mutation of each variant.