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THE INFLUENCE OF XMNI AND BCL11A GENE MODIFIERS ON HEMOGLOBIN F LEVELS IN EGYPTIAN β-THALASSEMIA MAJOR PATIENTS

PB2406

Nasreldin, E.1; galal, S.1; atwa, M.1; abdellatif, H.2; idris, N.3; ezzat, G.3; gaber, M.3; dahpy, M.3; raffat, D.4

doi: 10.1097/01.HS9.0000568088.92774.bf
Publication Only: Thalassemias
Free

1clinical pathology department, assiut university-faculty of medicine, assiut

2clinical pathology department, Aswan university, aswan

3Biochemistry department

4Pediatric department, assiut university-faculty of medicine, assiut, Egypt

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Background:

β-thalassemia major (β-TM) is an autosomal recessive disorder in which β-globin chain synthesis is severely decreased or absent which lead to blood transfusion dependency with its catastrophic complications. Polymorphisms at position -158 of XmnI-HBG2 on chromosome 11 and BCL11A site on chromosome 2p16 might be associated with elevated hemoglobin F (HbF) expression which may,in turn,improve β-thalassemia severity

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Aims:

This study aims to explore the modifying effects of XmnI and BCL11A loci on HbF levels in Egyptian β-thalassemia patients

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Methods:

A prospective case-control study of 70 multi-transfused β-thalassemia major patients and 22 controls was conducted in Paediatric hematology unit of Assiut university hospital from January 2016 till April 2017. PCR-RFLP was used for detection of single nucleotide polymorphisms at XmnI and BCL11A site loci.

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Results:

XmnI Polymorphism detected in 9 of 70 patients and associated with higher mean HbF levels (53.48%) than patients without polymorphism (meanHbF level was 42.23%)(P-Value = 0.035).The frequency of CT heterozygousgenotype was 8(11.4%), TT homozygous genotype was (1.4%) while the wild genotype CC detected in 61 (87.1%) of the cases. While BCL11A Polymorphism detected in 21 of 70 patients had no effect on either Hb or HbF levels (P-Value = 0.26). The TT genotype frequency was 49 (70%) and TC heterozygous genotype was detected in 21 (30 %) of patients. The CC genotype was absent.

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Summary/Conclusion:

The presence of XmnI polymorphism rather than BCL11A polymorphism has a modifying effect on HbF production and increased Hb levels between β-TM patients and so, it helps in identifying patients' benefits from HU therapy.

Copyright © 2019 The Authors. Published by Wolters Kluwer Health Inc., on behalf of the European Hematology Association.