Methylene tetrahydrofolate reductase gene mutation in sickle cell anaemia patients in Lagos, Nigeria.

Oluwaseun Olabisi Adelekan,Mulikat Adesola Badiru,Vincent Oluseye Osunkalu,Adedoyin Owolabi Dosunmu,Akinsegun Abduljaleel Akinbami,Ebele Ifeyinwa Uche,Taiwo Modupe Balogun,Kamal Ayobami Ismail,Omolara Risqat Kamson

doi:10.11604/pamj.2019.34.213.19524

Abstract

IntroductionThe significant causes of mortality among individuals with sickle cell anaemia (SCA) such as acute chest syndrome and cerebrovascular disease are related to vascular occlusion. Polymorphisms of the methylene tetrahydrofolate reductase (MTHFR) gene in persons with sickle cell anaemia have been suggested as a potential risk for vaso-occlusive events, with the C677T and A1298C polymorphisms being the commonest. This study therefore aimed to establish the pattern of MTHFR C677T and A1298C gene mutations among adults with HbSS phenotype attending the Haematology Clinic in Lagos State University Teaching Hospital Lagos, Nigeria.MethodsA cross-sectional study was done among SCA patients attending the Haematology Clinic of the Lagos State University Teaching Hospital (LASUTH), using age and sex matched HbAA controls. DNA extraction and gene analysis were done. The selective amplification of a particular segment of the DNA by polymerase chain reaction (PCR) was done and subsequent digestion of the amplified MTHFR gene into its various fragments.ResultsThe overall prevalence of the C677T mutation among participants was 19.3% (37 of 192), while the prevalence of A1298C was 15% (29 of 192).ConclusionThe prevalence of MTHFR C677T was higher than A1298C mutations among sickle cell anaemia subjects.

Highlights

Sickle cell anaemia has been recognized as a problem of major public health significance by the World Health Organization [1]
This study aimed to establish the pattern of methylenetetrahydrofolate reductase (MTHFR) gene mutations among adults with HbSS phenotype attending the Haematology Clinic of the Lagos State University Teaching Hospital (LASUTH) with a view to determine the role of MTHFR gene polymorphism as a contributory factor in their differential phenotypic expression
The study was conducted among adult patients with sickle cell anaemia attending the Haematology Clinic of LASUTH, Lagos, Nigeria, while apparently healthy individuals with no known medical condition served as controls

Summary

Introduction

Sickle cell anaemia has been recognized as a problem of major public health significance by the World Health Organization [1]. Thrombo-embolic complications remain a significant cause of morbidity and mortality in people with sickle cell anaemia [6, 10, 11]. These complications include stroke [12, 13], avascular necrosis of the head of femur [14], thrombotic microangiopathy [15], venous thromboembolism [16], retinopathy [17], end organ damage [18, 19], chronic leg ulcers [18, 19] amongst others. Normal MTHFR activity maintains the level of circulating folate and methionine and possibly prevents accumulation of homocysteine [24]

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Conclusion