Repository of Research and Investigative Information

Repository of Research and Investigative Information

Ilam University of Medical Sciences

Frequency of the MTHFR C677T polymorphism in Yemeni children with sickle cell disease

(2010) Frequency of the MTHFR C677T polymorphism in Yemeni children with sickle cell disease. Hemoglobin. pp. 67-77. ISSN 03630269 (ISSN)

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Official URL: https://www.scopus.com/inward/record.uri?eid=2-s2....

Abstract

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 <0.05). Whole blood folate and plasma vitamin B12 levels were normal or elevated, and 4% had vitamin B6 deficiency. In Yemeni children with sickle cell disease the frequency of the MTHFR C677T mutation was not higher than expected in the general population and was not associated with disease severity. © 2010 Informa UK, Ltd.

Item Type: Article
Keywords: Homocysteine metabolism MTHFR Sickle cell disease Yemen 5,10 methylenetetrahydrofolate reductase (FADH2) cyanocobalamin folic acid homocysteine pyridoxine adolescent article child disease severity DNA polymorphism female gene frequency genotype heterozygosity homozygosity human infant major clinical study male measurement polymerase chain reaction sickle cell anemia vitamin blood level Anemia, Sickle Cell Child, Preschool Humans Methylenetetrahydrofolate Reductase (NADPH2) Mutation Polymorphism, Genetic
Page Range: pp. 67-77
Journal or Publication Title: Hemoglobin
Journal Index: Scopus
Volume: 34
Number: 1
Identification Number: https://doi.org/10.3109/09687630903554111
ISSN: 03630269 (ISSN)
Depositing User: مهندس مهدی شریفی
URI: http://eprints.medilam.ac.ir/id/eprint/1652

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