Systematic evaluation of paediatric cohort with iron refractory iron deficiency anaemia (IRIDA) phenotype reveals multipleTMPRSS6gene variations
Author:
Affiliation:
1. Paediatric Haematology-Oncology Unit; Department of Paediatrics; Advanced Paediatric Centre; Post Graduate Institute of Medical Education and Research; Chandigarh India
Funder
International Pediatric Association Foundation (IPAF)
Publisher
Wiley
Subject
Hematology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjh.14554/fullpdf
Reference34 articles.
1. Predicting functional effect of human missense variations using PolyPhen-2;Adzhubei;Current Protocols in Human Genetics,2013
2. Responsiveness to parenteral iron therapy in children with oral iron-refractory iron-deficiency anemia;Akin;Pediatric Hematology Oncology,2014
3. TMPRSS6, but not TF, TFR2 or BMP2 variants are associated with increased risk of iron-deficiency anemia;An;Human Molecular Genetics,2012
4. Ashley , E. 2012 Ferritin (serum, plasma). Analyte Monographs ©The Association for Clinical Biochemistry and Laboratory Medicine London www.acb.org.uk/whatwedo/science/AMALC.aspx
5. Association of genetic variants with response to iron supplements in pregnancy;Athiyarath;Genes & Nutrition,2015
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1. IRIDA- An Indian perspective;Indian Journal of Pathology and Oncology;2024-07-15
2. Novel TMPRSS6 variants and their impact on iron‐refractory iron deficiency anaemia in pregnancy: A North Indian genotype phenotype study;British Journal of Haematology;2024-07-08
3. Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting;The Journal of Molecular Diagnostics;2024-05
4. The association of TMPRSS6 gene polymorphism with iron status in Egyptian children (a pilot study);BMC Pediatrics;2024-02-10
5. Genomics of iron refractory iron deficiency anemia phenotype reveals a spectrum of novel pathogenic biallelic and monoallelic TMPRSS6 variants and rare overlapping disorders;Gene;2024-02
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