A Cross-sectional Clinic-based Study Exploring whether Variants within Genes Coding for Enzymes of the Transmethylation and Trans-sulphuration Pathways Are Associated with Inter-individual Phenotypic Variation in Sickle Cell Anaemia in Jamaica
Abstract:Objective:To explore potential associations between four biallelic variants within three genes that code for enzymes involved in either the transmethylation (methylene tetrahydrofolate reductase (MTHFR), 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR)) or trans-sulphuration (cystathionine beta-synthase (CBS)) metabolic pathways, and clinically relevant phenotypic measures in sickle cell anaemia [homozygous haemoglobin SS] (HbSS). Methods: A total of 371 participants with HbSS disease were recruit… Show more
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