Detection of Methylene tetrahydrofolate reductase genes (C677T, A1298C) mutations among sickle cell anemia patient among Sudanese population

Author(s)	Dr. May A. M Ashmaig, Prof. Dr. Fathelrahman M Hassan, Prof. Nadia M Madani, Dr. Samah M Alhussin, Dr. Suha E Mohammed
Country	Sudan
Abstract	This study aimed to measure complete blood count and detect MTHFR genotypes C677T and A1298A among patients as well as normal subjects with normal hemoglobin AA. Method: 200 subjects were enrolled, 100 were SCD and the other were control group. CBC parameters analyzed with hematology analyzer BC3000-Mindray and detection of genotypes through PCR. Data analyzed via SPSS version 20. Result: A comparison of MTHFR C677T genotypes between SCD and healthy controls. The CC (mutant) genotype was found in 64% of SCD patients compared with 48% of healthy individuals, while the CT (wild type) was more common among healthy participants (52%) than among SCD patients (36%). This difference was statistically significant (p = 0.023), the AA genotype was found in 54% of SCD patients and 46% of controls, while the AC genotype was detected in 46% of SCD and 54% of healthy participants.
Keywords	sickle cell disease, genotypes, Methylene tetrahydrofolate reductase
Field	Biology > Medical / Physiology
Published In	Volume 17, Issue 1, January-March 2026
Published On	2026-03-21

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