Frequency of methyletetrahydrofolate reductase enzyme mutation among Sudanese patients with sickle cell anemia in Khartoum state

الملخص EN

Background : sickle cell disease is an autosomal recessive and chronic hemolytic anemia whose clinical manifestations arise from the tendency of the hemoglobin (HbS or sickle hemoglobin) to polymerize and deform red blood cells into the characteristic sickle shape.

the homozygous state (HbSS or sickle cell anemia) is the most common form of sickle cell disease, methylenetetrahydrofolate reductase (MTHFR) has a major impact on the regulation of the folic acid pathway due to the conversion of 5, 10-methylenetetrahydrofolate (methylene-THF) to 5-methyl-THF.

objective: this study aimed to determine the frequency of the mutation of MTHFR in patients with sickle cell anaemia and to measure the prevalence of MTHFR mutation among the study population.

methods : a total of 125 patients less than 17 years with sickle cell anaemia were examined for the mutation in the (MTHFR) gene.in this study we used chelex method to extract of DNA and used Gel Electrophoresis to explain the band of homozygous or heterozygous mutation in MTHFR in locus A1298C.

result : this study found that the frequency of mutation in MTHFR in A1298C was 19% in SCD patient (homozygous was 11.4%, while heterozygous was 7.6 %).

significant relationship between mutation in MTHFR and SCD patient (P=001).

conclusion : this study revealed that the three is high frequency of mutation of MTHFR enzyme among Sudanese patients with SCA (19%), 11.85% had heterozygous allele and 7.8% had homozygous allele.