Evidence map›Paper›PMID 32201547›Full record

ArticleThe Pan African medical journal2019

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

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

Open access · goldAbstract read
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In one paragraph

Article in The Pan African medical journal, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
0.6field-weighted citation impact, top 29% of its field
1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 synthesis or guideline pooled it, 6 citations in OpenAlex.

  1. Pooled it
4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

9 authors at 3 institutions in 1 country.

Oluwaseun Olabisi AdelekanDepartment of Haematology and Blood Transfusion, General Hospital Marina, Lagos, Nigeria.
Ebele Ifeyinwa UcheDepartment of Haematology and Blood Transfusion, Lagos State University College of Medicine, Lagos, Nigeria.
Taiwo Modupe BalogunDepartment of Haematology and Blood Transfusion, Lagos State University Teaching Hospital, Lagos, Nigeria.
Vincent Oluseye OsunkaluDepartment of Haematology and Blood Transfusion, College of Medicine, University of Lagos, Idiaraba, Lagos, Nigeria.
Akinsegun Abduljaleel AkinbamiDepartment of Haematology and Blood Transfusion, Lagos State University College of Medicine, Lagos, Nigeria.
Kamal Ayobami IsmailDepartment of Haematology and Blood Transfusion, Lagos State University College of Medicine, Lagos, Nigeria.
Mulikat Adesola BadiruDepartment of Haematology and Blood Transfusion, General Hospital Marina, Lagos, Nigeria.
Adedoyin Owolabi DosunmuDepartment of Haematology and Blood Transfusion, Lagos State University College of Medicine, Lagos, Nigeria.
Omolara Risqat KamsonDepartment of Haematology and Blood Transfusion, Lagos State University Teaching Hospital, Lagos, Nigeria.
Lagos State University · NGLagos State University Teaching Hospital · NGUniversity of Lagos · NG

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Acute Chest SyndromeAdultAllelesAnemia, Sickle CellArterial Occlusive DiseasesCase-Control StudiesCerebrovascular DisordersCross-Sectional StudiesFemaleGenetic Predisposition to DiseaseHemoglobin, SickleHumansMaleMethylenetetrahydrofolate Reductase (NADPH2)Middle AgedMutationHemoglobin, SickleMethylenetetrahydrofolate Reductase (NADPH2)A1298CC677Tmethylene tetrahydrofolate reductase gene mutationSickle cell anaemia

Identifiers

PMID32201547
PMCPMC7065652
OpenAlexW3009790860

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.