摘要：This study sought to determine the potential role of
HBB haplotypes to predict beta-thalassemia in the Malaysian population. A total of 543 archived samples were selected for this study. Five tagging SNPs in the beta-globin gene (
HBB; NG_000007.3) were analyzed for SNP-based and haplotype association using SHEsis online software. Single-SNP-based association analysis showed three SNPs have a statistically significant association with beta-thalassemia. When Bonferroni correction was applied, four SNPs were found statistically significant with beta-thalassemia; IVS2-74T>G (
p
adj
= 0.047), IVS2-16G>C (
p
adj
= 0.017), IVS2-666C>T (
p
adj
= 0.017) and 3’UTR + 314G>A (
p
adj
= 0.002). However, 3'UTR + 233G>C did not yield a significant association with
p
adj
value = 0.076. Further investigation using combined five SNPs for haplotype association analysis revealed three susceptible haplotypes with significant
p values of which, haplotypes 1-2-2-1-1 (
p = 6.49 × 10
−7, OR = 10.371 [3.345–32.148
