Adelekan Oluwaseun Olabisi, Uche Ebele Ifeyinwa, Balogun Taiwo Modupe, Osunkalu Vincent Oluseye, Akinbami Akinsegun Abduljaleel, Ismail Kamal Ayobami, Badiru Mulikat Adesola, Dosunmu Adedoyin Owolabi, Kamson Omolara Risqat
Department of Haematology and Blood Transfusion, General Hospital Marina, Lagos, Nigeria.
Department of Haematology and Blood Transfusion, Lagos State University College of Medicine, Lagos, Nigeria.
Pan Afr Med J. 2019 Dec 30;34:213. doi: 10.11604/pamj.2019.34.213.19524. eCollection 2019.
The 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.
A 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.
The overall prevalence of the C677T mutation among participants was 19.3% (37 of 192), while the prevalence of A1298C was 15% (29 of 192).
The prevalence of MTHFR C677T was higher than A1298C mutations among sickle cell anaemia subjects.
镰状细胞贫血（SCA）患者的主要死亡原因，如急性胸部综合征和脑血管疾病，都与血管闭塞有关。镰状细胞贫血患者亚甲基四氢叶酸还原酶（MTHFR）基因的多态性被认为是血管闭塞事件的潜在风险，其中C677T和A1298C多态性最为常见。因此，本研究旨在确定在尼日利亚拉各斯州立大学教学医院血液科就诊的具有HbSS表型的成年患者中MTHFR C677T和A1298C基因突变的模式。
在拉各斯州立大学教学医院（LASUTH）血液科就诊的SCA患者中进行了一项横断面研究，使用年龄和性别匹配的HbAA对照。进行了DNA提取和基因分析。通过聚合酶链反应（PCR）对DNA的特定片段进行选择性扩增，随后将扩增的MTHFR基因消化成其各个片段。
参与者中C677T突变的总体患病率为19.3%（192例中的37例），而A1298C的患病率为15%（192例中的29例）。
在镰状细胞贫血患者中，MTHFR C677T的患病率高于A1298C突变。
