Iron refractory iron deficiency anemia (IRIDA) is a recently described autosomal recessive disorder caused by mutations in TMPRSS6, the gene encoding matriptase-2. Patients have inappropriately high levels of hepcidin. Hypochromic microcytic anemia refractory to oral iron and only partially responsive to parenteral iron is the hallmark of this disorder. We report six patients from three unrelated families with mutations in the TMPRSS6 gene, with three of the four identified mutations being novel. Although response to oral iron in IRIDA patients has been reported rarely before, all of our five patients receiving oral iron and our one patient supplemented with vitamin C responded to therapy at least to some extent. We think that IRIDA should ...
Iron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypo...
Abstract Iron‐refractory iron‐deficiency anemia (IRIDA) is a rare autosomal recessive disease that p...
Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with a...
Iron refractory iron deficiency anemia (IRIDA) is a recently described autosomal recessive disorder ...
Iron refractory iron deficiency anemia (IRIDA) is a rare hereditary disease caused by mutations in T...
TMPRSS6 variants that affect protein function result in impaired matriptase-2 function and consequen...
Mutations in TMPRSS6 gene cause iron-refractory iron deficiency anemia, a rare autosomal recessive d...
Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized ...
TMPRSS6 variants that affect protein function result in impaired matriptase-2 function and consequen...
Objective: Iron-refractory iron-deficiency anaemia (IRIDA) is a rare autosomal-recessive disease cha...
Matriptase-2 (Tmprss6), a type II transmembrane serine protease, has an essential role in iron homoe...
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia often unresponsi...
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia usually unrespon...
Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive inherited form of iron defi...
Iron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypo...
Abstract Iron‐refractory iron‐deficiency anemia (IRIDA) is a rare autosomal recessive disease that p...
Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with a...
Iron refractory iron deficiency anemia (IRIDA) is a recently described autosomal recessive disorder ...
Iron refractory iron deficiency anemia (IRIDA) is a rare hereditary disease caused by mutations in T...
TMPRSS6 variants that affect protein function result in impaired matriptase-2 function and consequen...
Mutations in TMPRSS6 gene cause iron-refractory iron deficiency anemia, a rare autosomal recessive d...
Iron-refractory iron-deficiency anemia (IRIDA) is a rare autosomal-recessive disorder characterized ...
TMPRSS6 variants that affect protein function result in impaired matriptase-2 function and consequen...
Objective: Iron-refractory iron-deficiency anaemia (IRIDA) is a rare autosomal-recessive disease cha...
Matriptase-2 (Tmprss6), a type II transmembrane serine protease, has an essential role in iron homoe...
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia often unresponsi...
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive anemia usually unrespon...
Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive inherited form of iron defi...
Iron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypo...
Abstract Iron‐refractory iron‐deficiency anemia (IRIDA) is a rare autosomal recessive disease that p...
Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with a...