ArticleBlood cells, molecules & diseases2013
Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.
Article in Blood cells, molecules & diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 58 citations in OpenAlex.
- Genetic Variation and Sickle Cell Disease Severity: A Systematic Review and Meta-Analysis.JAMA network open · 2023Pooled it
- A systematic review of known mechanisms of hydroxyurea-induced fetal hemoglobin for treatment of sickle cell disease.Expert review of hematology · 2015Pooled it
- Sticking together: Polymerization of sickle hemoglobin drives the multiscale pathophysiology of sickle cell disease.Biophysics reviews · 2025Review
- Article
- Arab-Indian -530 ß-distal promoter haplotype and sickle/Hb D heterozygosis in Badagas of Nilgiris: is it suggestive of Harappan origin?Journal of genetics · 2022Article
- Unique Polymorphisms atJournal of personalized medicine · 2021Article
- Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing.Journal of personalized medicine · 2021Article
- Alpha thalassemia, but not βAnnals of hematology · 2021Article
- The Genetic and Clinical Significance of Fetal Hemoglobin Expression in Sickle Cell Disease.Medical principles and practice : international journal of the Kuwait University, Health Science Centre · 2021Review
- Fetal Hemoglobin in Sickle Hemoglobinopathies: High HbF Genotypes and Phenotypes.Journal of clinical medicine · 2020Review
- Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia.Annals of hematology · 2020Article
- New mutations of locus control region in Saudi sickle patients.Saudi journal of biological sciences · 2020Article
- Influence of β-Globin Haplotypes on Oxidative Stress, Antioxidant Capacity and Inflammation in Sickle Cell Patients of Chhattisgarh.Indian journal of clinical biochemistry : IJCB · 2019Article
- Biological impact of α genes, β haplotypes, and G6PD activity in sickle cell anemia at baseline and with hydroxyurea.Blood advances · 2018Article
- Genetic variation of Krüppel-like factor 1 (KLF1) and fetal hemoglobin (HbF) levels in βInternational journal of hematology · 2018Article
- Prevalence of Microalbuminuria in Adult Patients with Sickle Cell Disease in Eastern Saudi Arabia.International journal of nephrology · 2018Article
- Fetal hemoglobin in sickle cell anemia: The Arab-Indian haplotype and new therapeutic agents.American journal of hematology · 2017Review
- A candidate transacting modulator of fetal hemoglobin gene expression in the Arab-Indian haplotype of sickle cell anemia.American journal of hematology · 2016Article
- Variants of ZBTB7A (LRF) and its β-globin gene cluster binding motifs in sickle cell anemia.Blood cells, molecules & diseases · 2016Article
- Homozygosity for a haplotype in the HBG2-OR51B4 region is exclusive to Arab-Indian haplotype sickle cell anemia.American journal of hematology · 2016Article
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20 authors at 7 institutions in 2 countries.
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Abstract
Sickle cell anemia is common in the Middle East and India where the HbS gene is sometimes associated with the Arab-Indian (AI) β-globin gene (HBB) cluster haplotype. In this haplotype of sickle cell anemia, fetal hemoglobin (HbF) levels are 3-4 fold higher than those found in patients with HbS haplotypes of African origin. Little is known about the genetic elements that modulate HbF in AI haplotype patients. We therefore studied Saudi HbS homozygotes with the AI haplotype (mean HbF 19.2±7.0%, range 3.6 to 39.6%) and employed targeted genotyping of polymorphic sites to explore cis- and trans- acting elements associated with high HbF expression. We also described sequences which appear to be unique to the AI haplotype for which future functional studies are needed to further define their role in HbF modulation. All cases, regardless of HbF concentration, were homozygous for AI haplotype-specific elements cis to HBB. SNPs in BCL11A and HBS1L-MYB that were associated with HbF in other populations explained only 8.8% of the variation in HbF. KLF1 polymorphisms associated previously with high HbF were not present in the 44 patients tested. More than 90% of the HbF variance in sickle cell patients with the AI haplotype remains unexplained by the genetic loci that we studied. The dispersion of HbF levels among AI haplotype patients suggests that other genetic elements modulate the effects of the known cis- and trans-acting regulators. These regulatory elements, which remain to be discovered, might be specific in the Saudi and some other populations where HbF levels are especially high.
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