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Frequency of methyletetrahydrofolate reductase enzyme mutation among Sudanese patients with sickle cell anemia in Khartoum state
Joint Authors
Muhammad, Sumayyah Abd al-Munim
al-Husayn, Khalid Muhammad Khalid
Bu Dirbah, Nura Nahal
al-Khidr, Abd al-Azim Abd al-Salam Ibrahim
Ournasseir, Muhammad al-Fatih Husayn
Mansur, Lina Hamid al-Nil
Abd al-Aziz, Nariman Sulayman
Babkir, Rana Kamal Yaqub
Source
Sudan Medical Laboratory Journal
Issue
Vol. 8, Issue 1 (31 Dec. 2020), pp.1-13, 13 p.
Publisher
Omdurman Islamic University Faculty of Medical Laboratory
Publication Date
2020-12-31
Country of Publication
Sudan
No. of Pages
13
Main Subjects
Natural & Life Sciences (Multidisciplinary)
Abstract 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.
American Psychological Association (APA)
al-Husayn, Khalid Muhammad Khalid& Bu Dirbah, Nura Nahal& Mansur, Lina Hamid al-Nil& Abd al-Aziz, Nariman Sulayman& Babkir, Rana Kamal Yaqub& Muhammad, Sumayyah Abd al-Munim…[et al.]. 2020. Frequency of methyletetrahydrofolate reductase enzyme mutation among Sudanese patients with sickle cell anemia in Khartoum state. Sudan Medical Laboratory Journal،Vol. 8, no. 1, pp.1-13.
https://search.emarefa.net/detail/BIM-1491223
Modern Language Association (MLA)
al-Husayn, Khalid Muhammad Khalid…[et al.]. Frequency of methyletetrahydrofolate reductase enzyme mutation among Sudanese patients with sickle cell anemia in Khartoum state. Sudan Medical Laboratory Journal Vol. 8, no. 1 (2020), pp.1-13.
https://search.emarefa.net/detail/BIM-1491223
American Medical Association (AMA)
al-Husayn, Khalid Muhammad Khalid& Bu Dirbah, Nura Nahal& Mansur, Lina Hamid al-Nil& Abd al-Aziz, Nariman Sulayman& Babkir, Rana Kamal Yaqub& Muhammad, Sumayyah Abd al-Munim…[et al.]. Frequency of methyletetrahydrofolate reductase enzyme mutation among Sudanese patients with sickle cell anemia in Khartoum state. Sudan Medical Laboratory Journal. 2020. Vol. 8, no. 1, pp.1-13.
https://search.emarefa.net/detail/BIM-1491223
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 11-13
Record ID
BIM-1491223