Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes. - 2025
Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes.
Ngole, Mamy; Mbayabo, Gloire; Lumbala, Paulet al.
2025 • In Mediterranean Journal of Hematology and Infectious Diseases, 17 (1), p. 2025001
DR Congo; HbF; SCA haplotypes; Sickle cell anemia; Single nucleotide polymorphisms; Hematology; Infectious Diseases
Abstract :
[en] Background: So far, the fetal hemoglobin (HbF) level is the most recognized modulator of sickle cell anemia (SCA) clinical expression. Variability in the HbF levels is associated with the SCA haplotypes and quantitative trait loci identified by Genome-Wide Association Studies (GWAS).
Key words: sickle cell anemia, DR Congo, SCA haplotypes, HbF, single nucleotide polymorphisms
Disciplines :
Genetics & genetic processes
Author, co-author :
Ngole, Mamy; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo ; Department of Medical Biology, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Mbayabo, Gloire; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Lumbala, Paul; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium ; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Race, Valerie; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium
Mvuama, Nono; Kinshasa School of Public Health, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Lukusa, Prosper Tshilobo; Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo ; Department of Pediatrics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo
Van Geet, Chris; Department of Cardiovascular Sciences and Pediatrics (Hemato-oncology), KU Leuven and UZ Leuven, Belgium
Devriendt, Koenraad; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium
Matthijs, Gert; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium
Lumaka Zola, Aimé ; Université de Liège - ULiège > GIGA > GIGA Cancer - Human Genetics
Cleynen, Isabelle; Center for Human Genetics, Faculty of Medicine, KU Leuven, Leuven, Belgium
Genetic Modulators of Diversity in the Biological Expression of Sickle Cell Anemia in Patients from Democratic Republic of Congo: Role of βs-globin Haplotypes.
Publication date :
2025
Journal title :
Mediterranean Journal of Hematology and Infectious Diseases
Aghajani F, Mahdavi MR, Kosaryan M, Mahdavi M, Hamidi M, Jalali H. Identification of β-globin haplotypes linked to sickle hemoglobin (HbS) alleles in Mazandaran province, Iran. Genes Genet Syst.2017; 91(6):311-313 https://doi.org/10.1266/ggs.16-00005PMid:28003571
Ndugwa C, Higgs D, Fisher C, Hambleton I, Mason K, Serjeant BE, Serjeant GR. Homozygous sickle cell disease in Uganda and Jamaica: a comparison of Bantu and Benin haplotypes. West Indian Med J. 2012; 61(7): 684-91
Kevin Esoh & Ambroise Wonkam, Evolutionary history of sickle-cell mutation: implications for global genetic medicine, Human Molecular Genetics, Volume 30, Issue R1, March 1, 2021, Pages R119-R128, https://doi.org/10.1093/hmg/ddab004PMid:33461216 PMCid:PMC8117455
Al-Saqladi AW, Brabin BJ, Bin-Gadeem HA, et al. Beta-globin gene cluster haplotypes in Yemeni children with sickle cell disease. Acta Haematol. 2010;123(3):182-185 https://doi.org/10.1159/000294965 PMid:20224271
Bhagat S, Patra PK, Thakur AS. Fetal Haemoglobin and β-globin Gene Cluster Haplotypes among Sickle Cell Patients in Chhattisgarh. J Clin Diagn Res. 2013 Feb;7(2):269-72 https://doi.org/10.7860/JCDR/2013/4381.2744PMid:23542314 PMCid:PMC3592290
Adekile A, Akbulut-Jeradi N, Al Khaldi R, et al. Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing. J Pers Med. 2021;11(6):454 https://doi.org/10.3390/jpm11060454PMid:34071035 PMCid:PMC8224627
Tshilolo L, Aissi LM, Lukusa D, Kinsiama C, Wembonyama S, Gulbis B, Vertongen F. Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31 204 newborns. J Clin Pathol.2009; 62(1): 35-8 https://doi.org/10.1136/jcp.2008.058958 PMid:19103857
Mikobi TM, Lukusa Tshilobo P, Aloni MN, et al. Clinical phenotypes and the biological parameters of Congolese patients suffering from sickle cell anemia: A first report from Central Africa. J Clin Lab Anal. 2017;31(6): e22140 https://doi.org/10.1002/jcla.22140PMid:28116772 PMCid:PMC6816843
Ngole M, Race V, Mbayabo G, Lumbala P, Songo C, Lukusa PT, Devriendt K, Matthijs G, Lumaka A . DNA testing for sickle cell anemia in Africa: Implementation choices for the Democratic Republic of Congo. J Clin Lab Anal. 2022;36(5):e24398 https://doi.org/10.1002/jcla.24398PMid:35405024 PMCid:PMC9102645
Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res.1988;16(3):1215 https://doi.org/10.1093/nar/16.3.1215PMid:3344216 PMCid:PMC334765
Cantsilieris S, Stessman HA, Shendure J, Eichler EE. Targeted Capture and High Throughput Sequencing Using Molecular Inversion Probes (MIPs). Methods Mol Bio.2017;1492:95- 106 https://doi.org/10.1007/978-1-4939-6442-0_6PMid:27822858 PMCid:PMC5484527
Magoč T, Salzberg SL. FLASH: fast length adjustment of short reads to improve genome assemblies. Bioinformatics.2011;27(21):2957-63https://doi.org/10.1093/bioinformatics/btr507PMid:21903629 PMCid:PMC3198573
Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14), 1754-176 https://doi.org/10.1093/bioinformatics/btp324 PMid:19451168 PMCid:PMC2705234
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA . The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res.2010;20(9),1297-303 https://doi.org/10.1101/gr.107524.110PMid:20644199 PMCid:PMC2928508
Tshilolo L, Tomlinson G, Williams TN, Santos B, Olupot-Olupot P, Lane A, Aygun B, Stuber SE, Latham TS, McGann PT, Ware RE; REACH Investigators. Hydroxyurea for Children with Sickle Cell Anemia in Sub-Saharan Africa. N Engl J Med.2019;380(2):121-131 https://doi.org/10.1056/NEJMoa1813598PMid:30501550 PMCid:PMC6454575
Flahaux ML, Schoumaker B. Democratic Republic of the Congo: A Migration History Marked by Crises and Restrictions. The online Journal of Migration Policy Institute;2016: April 20. www.migrationpolicy.org Accessed March 15, 2022
Zago MA, Silva WA Jr, Dalle B, et al. Atypical beta(s) haplotypes are generated by diverse genetic mechanisms. Am J Hematol. 2000;63(2):79-84 https://doi.org/10.1002/(SICI)1096-8652(200002)63:2<79::AIDAJH4>3.0.CO;2-D
Bitoungui VJ, Pule GD, Hanchard N, Ngogang J, Wonkam A. Beta-globin gene haplotypes among cameroonians and review of the global distribution: is there a case for a single sickle mutation origin in Africa? OMICS.2015;19(3):171-9https://doi.org/10.1089/omi.2014.0134PMid:25748438 PMCid:PMC4356477
Joly P, Lacan P, Garcia C, et al. Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays. Clin Chim Acta. 2011;412(13-14):1257-1261 https://doi.org/10.1016/j.cca.2011.03.025PMid:21440534
