Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl With Novel TMPRSS6 Gene Variants: A Case Report and Review Literature.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000002573
Abstract: Iron-refractory iron deficiency anemia (IRIDA) is an autosomal recessive disorder caused by mutations in the TMPRSS6 gene, which impair iron homeostasis. We reported a 4-year-old girl who presented with a 1-year history of iron deficiency… read more here.
Keywords: iron; tmprss6 gene; therapy; prolonged duration ... See more keywords
Iron Refractory Iron Deficiency Anemia in Dizygotic Twins Due to a Novel TMPRSS6 Gene Mutation in Addition to Polymorphisms Associated With High Susceptibility to Develop Ferropenic Anemia
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DOI: 10.1177/2324709617701776
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… read more here.
Keywords: anemia; deficiency anemia; iron deficiency; iron ... See more keywords
Adult-onset leukodystrophy with homozygous AARS2 mutation located in the aminoacylation domain
Sign Up to like & getrecommendations! Published in 2019 at "Neurology India"
DOI: 10.4103/0028-3886.263237
Abstract: Anemia is a common and predominant blood disorder globally, in which the level of hemoglobin or healthy red blood cells are abnormally lower. The most common type of anemia is iron-deficiency anemia (IDA), and the… read more here.
Keywords: adult onset; condition; matriptase; hepcidin ... See more keywords