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Single-center experience of four cases with iron-refractory iron deficiency anemia (IRIDA).
Turk J Pediatr
November 2024
Department of Pediatric Hematology, Faculty of Medicine, Hacettepe University, Ankara, Türkiye.
Background: Iron refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive type of anemia characterized by unresponsiveness to oral iron therapy and partial response to parenteral iron therapy. In this article, we report the clinical presentation of four patients with IRIDA admitted to our clinic, including their laboratory values at admission and after oral and parenteral iron treatment, and the analysis of their mutation(s) in TMPRSS6 gene.
Case: Four patients from different families, aged between 3 and 14 years, two girls and two boys, two of whom were from consanguineous marriages, who were diagnosed with iron deficiency anemia in primary health care institutions and referred to our clinic because of inadequate response to oral iron treatment were included.
A novel mutation in the SLCO2A1 gene presenting as persistent hypoproteinaemia and refractory iron deficiency anaemia due to chronic enteropathy: a case report.
BMC Pediatr
November 2024
Department of Anatomy, Faculty of Medicine, University of Kelaniya, Colombo, Sri Lanka.
Background: The SLCO2A1 gene encodes a prostaglandin transporter and we report a novel mutation causing hypoproteinaemia and refractory anaemia due to chronic enteropathy.
Case Presentation: An 18-year-old boy of consanguineous parents was investigated for hypoproteinaemia and anaemia. He was short, pale and had generalised oedema.
Social defeat stress impairs systemic iron metabolism by activating the hepcidin-ferroportin axis.
FASEB Bioadv
August 2024
Department of Preemptive Medical Pharmacology for Mind and Body, Graduate School and School of Pharmaceutical Sciences Osaka University Suita Osaka Japan.
Chronic psychological stress has been reported to decrease circulating iron concentrations and impair hematopoiesis. However, the underlying mechanisms remain unclear. This study aimed to investigate the effects of psychological stress on biological iron metabolism by using the social defeat stress (SDS) model, a widely used model of depression.
View Article and Find Full Text PDFNovel TMPRSS6 variants and their impact on iron-refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study.
Br J Haematol
August 2024
Department of Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Iron-refractory iron deficiency anaemia (IRIDA) is a rare autosomal recessive disorder, distinguished by hypochromic microcytic anaemia, low transferrin levels and inappropriately elevated hepcidin (HEPC) levels. It is caused by mutations in TMPRSS6 gene. Systematic screening of 500 pregnant women with iron deficiency anaemia having moderate to severe microcytosis with no other causes of anaemia were enrolled to rule out oral iron refractoriness.
View Article and Find Full Text PDF[Diagnosis and treatment of iron deficiency anemia].
Rinsho Ketsueki
July 2024
Department of Hematology, NHO Kyoto Medical Center.
The causes of iron deficiency anemia include blood loss, increased demand, insufficient dietary intake, and disorders affecting iron absorption. In certain circumstances, atrophic gastritis, either autoimmune or due to Helicobacter pylori infection, may contribute. On very rare occasions, iron-refractory iron deficiency anemia can develop as a consequence of TMPRSS6 mutations.
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