Fetal hemoglobin in sickle cell anemia: Saudi patients from the Southwestern province have similar HBB haplotypes but higher HbF levels than African Americans

Modifying effect of XmnI, BCL11A, and HBS1L-MYB on clinical appearances: A study on β-thalassemia and hemoglobin E/β-thalassemia patients in Indonesia

“…These findings are thus not consistent with the data previously reported, such as those on European [11], Brazilian, or African-American populations [13,36], which reported the effect of variation of rs9399137 on HbF concentration. However, when considering other genetic epidemiology studies, our data are in accordance with those identified in several research centers, including data from studies in Hong Kong [44], Cameroon [45], and the Middle East [46]. These different results between cross studies demonstrate the fact that the influence of SNPs can be different among different regions, reflecting a link between ethnicity and other genetic susceptibility factors.…”

Genetic variant in the BCL11A (rs1427407), but not HBS1-MYB (rs6934903) loci associate with fetal hemoglobin levels in Indian sickle cell disease patients

“…Considering the similarity in the frequency with the Caucasian population but the lack of association with HbF levels in our study, differences in the LD pattern may be attributable. The lack of association of HMIP with HbF levels is also echoed in the findings by Asultan and colleagues [50] who have reported that HBS1-MYB and OR51B5/6 had no influence on HBG expression in Saudi South Western province patients. In contrast Makani and colleagues found a strong association of the HMIP locus, albeit with variants in LD block 2 with HbF levels in Tanzanian patients with SCA [51].…”

Genetics of fetal hemoglobin in tribal Indian patients with sickle cell anemia

“…The BCL11A (rs766432) was an important HbF QTL even in Saudi patients from Southwestern province with HBB haplotypes of African origin. 33 Frequency comparison indicates the rs11886868 (C) allele frequency in the present study to be much higher than the Brazilian patients (C allele frequency 5 0.39, c 2 5 24.07, P , 0.0001) or the CSSCD patients (C allele frequency 5 0.31, c 2 5 72.46, P , 0.0001), 21 but lower than in Tanzanian patients (C allele frequency 5 0.74, c 2 5 17.63, P , 0.0001) and British population (C allele frequency 5 0.71, c 2 5 4.427, P 5 0.035). 31 The role of 6q23 QTL on HbF control was explored by Thein et al, 20 who identified principal genetic variants in 3 blocks referred to as 1, 2, and 3, which are responsible for 17.6% of the trait variance.…”