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

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منابع مشابه

Age at Diagnosis of Sickle Cell Anaemia in Lagos, Nigeria

BACKGROUND Sickle cell anaemia is the most common genetic disorder worldwide as well as in Nigeria. Delay in the diagnosis of the condition constitutes an important cause of concern for caretakers of affected children. OBJECTIVE To determine the age at diagnosis in a population of children with sickle cell anaemia in Lagos, Nigeria. METHODOLOGY The study was conducted between October and De...

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Steady state hemoglobin concentration and packed cell volume in homozygous sickle cell disease patients in Lagos, Nigeria

Background: Sickle cell disease is a genetic disorder of hemoglobin causing myriad of pathology including anemia. The purpose of this study was to evaluate the baseline values of steady state hemoglobin and packed cell volume as a guide to managing the early recognition of hemolytic crises in sickle cell anemia. Methods: A cross-sectional study was conducted among the sickle cell patients atte...

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[Mutations in the methylene-tetrahydrofolate reductase gene and Down syndrome].

Down syndrome (DS) is a complex genetic and metabolic disorder attributed to the presence of three copies of chromosome 21. The extra chromosome derives from the mother in 93% of cases and is due to abnormal chromosome segregation during meiosis (nondisjunction). Except for advanced age at conception, maternal risk factors for meiotic nondisjunction are not well established. A recent preliminar...

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Association between the methylene tetrahydrofolate reductase gene C677T mutation and colchicine unresponsiveness in Behcet’s disease

PURPOSE Behcet's disease (BD) is a multisystemic immunoinflammatory disorder characterized by mucocutaneous, ocular, vascular, and central nervous system manifestations. The common methylene tetrahydrofolate reductase (MTHFR) gene C677T mutation is a known risk factor for thrombosis. The aim of this study was to investigate the MTHFR gene C677 mutation in patients with BD and evaluate if there ...

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Myocardial Infarction in a Young Patient with Methylene Tetrahydrofolate Reductase (mthfr) Gene Mutation

Modifiable risk factors for CHD include high blood pressure, high blood cholesterol, smoking, obesity, physical inactivity, diabetes, and stress. When a patient presents with the typical features of CHD (like ours) but do not have the modifiable risk factors, genetic causes should be considered. A limited number of genetic variants are proven to be independent risk factors for thromboembolism. ...

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ژورنال

عنوان ژورنال: Pan African Medical Journal

سال: 2019

ISSN: 1937-8688

DOI: 10.11604/pamj.2019.34.213.19524