Systematic evaluation of paediatric cohort with iron refractory iron deficiency anaemia (IRIDA) phenotype reveals multipleTMPRSS6gene variations

Author:

Bhatia Prateek1,Singh Aditya1,Hegde Avani1,Jain Richa1,Bansal Deepak1

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

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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