Frequency of the MTHFR C677T Polymorphism in Yemeni Children with Sickle Cell Disease

The frequency of the methylenetetrahydrofolate reductase enzyme (MTHFR) C677T mutation was determined using polymerase chain reaction (PCR) and with measurement of plasma total homocysteine (tHcy), folate, vitamins B6, B12 and disease severity in 102 SS children from Yemen. The homozygous TT genotyp...

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Bibliographic Details
Published in:Hemoglobin 2010-01, Vol.34 (1), p.67-77
Main Authors: Al-Saqladi, Abdul-Wahab M., Harper, Greg, Delpisheh, Ali, Fijnvandraat, Karin, Bin-Gadeem, Hassan A., Brabin, Bernard J.
Format: Article
Language:English
Subjects:
Adolescent
Anemia, Sickle Cell - blood
Anemia, Sickle Cell - genetics
Child
Child, Preschool
Female
Gene Frequency
Genotype
Homocysteine metabolism
Humans
Infant
Male
Methylenetetrahydrofolate Reductase (NADPH2) - blood
Methylenetetrahydrofolate Reductase (NADPH2) - genetics
Methylenetetrahydrofolate Reductase (NADPH2) - metabolism
MTHFR
Mutation
Polymerase Chain Reaction
Polymorphism, Genetic - genetics
Sickle cell disease
Yemen
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Summary:The frequency of the methylenetetrahydrofolate reductase enzyme (MTHFR) C677T mutation was determined using polymerase chain reaction (PCR) and with measurement of plasma total homocysteine (tHcy), folate, vitamins B6, B12 and disease severity in 102 SS children from Yemen. The homozygous TT genotype for MTHFR C677T was present in 2% (2 102), and heterozygous CT in 10.8% (11 102), giving an allele frequency of 7.35%. The T allele was not associated with raised plasma tHcy or increased disease severity. The mean [±SD (standard deviation)] tHcy was 2.8 ± 1.7 μmol L, increased with age and was highest in children >10 years (3.6 ± 2.5 vs. 2.5 ± 1.2 μmol L, p
ISSN:0363-0269
1532-432X
DOI:10.3109/09687630903554111