Article

Novel Pathogenic Variants of TMPRSS6 Gene in a Girl with Iron Refractory Iron Deficiency Anemia (IRIDA)

2024-01-31

Abstract excerpt

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 decline...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 94056884-3d52-58a0-b107-56a3411cb4a5
DOI: 10.22541/au.170670108.88126635/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel Pathogenic Variants of TMPRSS6 Gene in a Girl with Iron Refractory Iron Deficiency Anemia (IRIDA)DOI 10.22541/au.170670108.88126635/v1Read

Response to Prolonged Duration of Therapeutic Dose Oral Iron Therapy in a Girl With Novel TMPRSS6 Gene Variants: A Case Report and Review Literature.Semantic proximity Read

Novel mutation in the TMPRSS6 gene with iron-refractory iron deficiency anemia.Semantic proximity Read

TMPRSS6 gene mutations in six Saudi families with iron refractory iron deficiency anemia.Semantic proximity Read

Two novel mutations in TMPRSS6 associated with iron-refractory iron deficiency anemia in a mother and child.Semantic proximity Read

TMPRSS6 gene polymorphisms associated with iron deficiency anaemia among global populationSemantic proximity Read

Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia.Semantic proximity Read

Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations.Semantic proximity Read

TMPRSS6 as a Therapeutic Target for Disorders of Erythropoiesis and Iron HomeostasisSemantic proximity Read

[Identification and characterization of clinical features and gene mutation in a patient with iron refractory iron deficiency anemia (IRIDA)].Semantic proximity Read

The role of TMPRSS6 polymorphisms in iron deficiency anemia partially responsive to oral iron treatment.Semantic proximity Read

TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia.Semantic proximity Read

Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders.Semantic proximity Read