Authors
Vinod Vathipadiekal, John J Farrell, Shuai Wang, Heather L Edward, Heather Shappell, AM Al‐Rubaish, Fahad Al‐Muhanna, Z Naserullah, A Alsuliman, Hatem Othman Qutub, Irene Simkin, Lindsay A Farrer, Zhihua Jiang, Hong‐Yuan Luo, Shengwen Huang, Gustavo Mostoslavsky, George J Murphy, Pradeep K Patra, David HK Chui, Abdulrahman Alsultan, Amein K Al‐Ali, Paola Sebastiani, Martin H Steinberg
Publication date
2016/11
Journal
American Journal of Hematology
Volume
91
Issue
11
Pages
1118-1122
Description
Fetal hemoglobin (HbF) levels are higher in the Arab–Indian (AI) β‐globin gene haplotype of sickle cell anemia compared with African‐origin haplotypes. To study genetic elements that effect HbF expression in the AI haplotype we completed whole genome sequencing in 14 Saudi AI haplotype sickle hemoglobin homozygotes—seven selected for low HbF (8.2% ± 1.3%) and seven selected for high HbF (23.5% ± 2.6%). An intronic single nucleotide polymorphism (SNP) in ANTXR1, an anthrax toxin receptor (chromosome 2p13), was associated with HbF. These results were replicated in two independent Saudi AI haplotype cohorts of 120 and 139 patients, but not in 76 Saudi Benin haplotype, 894 African origin haplotype and 44 AI haplotype patients of Indian origin, suggesting that this association is effective only in the Saudi AI haplotype background. ANTXR1 variants explained 10% of the HbF variability …
Scholar articles
V Vathipadiekal, JJ Farrell, S Wang, HL Edward… - American Journal of Hematology, 2016
V Vathipadiekal, J Farrell, Z Shuai, H Edward… - Blood, 2015