Abstract
Iron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypochromic microcytic pattern is associated with low transferrin saturation, normal-high ferritin, and inappropriately high hepcidin level. This entity is caused by mutants of the TMPRSS6 gene that encodes the protein matriptase II, which influences hepcidin expression, an iron metabolism counterregulatory protein. We report two 29-year-old dizygotic female twins with ferropenic, hypochromic microcytic anemia with 20 years of evolution, refractory to oral iron therapy. After exclusion of gastrointestinal etiologies, IRIDA diagnosis was suspected and a novel mutation in the TMPRSS6 gene was identified. It was found in intron 11 (c.1396+4 A>T) and seems to affect the gene expression. In addition, 3 polymorphisms already associated with a higher risk of developing iron deficiency anemia were also found (D521D, V736A, and Y739Y). Our case reports an undescribed mutation causing IRIDA and supports the hypothesis that this clinical syndrome may be more common than previously thought and its genetics more heterogeneous than initially described.
Highlights
Iron deficiency anemia is a common entity, encompassing approximately 50% of all anemia cases worldwide.[1]
We present a case of 2 dizygotic twins with Iron refractory iron deficiency anemia (IRIDA) and a new mutation located in the intron 11 of the TMPRSS6 gene
IRIDA is a hereditary autosomal recessive anemia in which mutations in the TMPRSS6 gene, which encodes matriptase II, are responsible for hepcidin levels that are inappropriately high in correlation to the low levels of free iron in these patients.[4,5]
Summary
Iron deficiency anemia is a common entity, encompassing approximately 50% of all anemia cases worldwide.[1].
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