Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2]

References

• Piel FB, Patil AP, Howes RE, et al. Global epidemiology of sickle haemoglobin in neonates: a contemporary geostatistical model-based map and population estimates. Lancet. 2013;3819(9861):142–151.
   Web of Science ®Google Scholar
• Lopez-Sall P, Diop PA, Diagne I, et al. [Transferrine soluble receptors' contribution to the assessment of iron status in homozygous drepanocytic anaemia]. Ann Biol Clin (Paris). 2004;62(4):415–421.
   PubMed Web of Science ®Google Scholar
• Sebastiani P, Nolan VG, Baldwin CT, et al. A network model to predict the risk of death in sickle cell disease. Blood. 2007;110(7):2727–2735.
   PubMed Web of Science ®Google Scholar
• Renoux C, Connes P, Nader E, et al. α-Thalassaemia promotes frequent vaso-occlusive crises in children with sickle cell anaemia through haemorheological changes. Pediatr Blood Cancer. 2017. doi: 10.1002/pbc.26455. [Epub ahead of print].
   PubMed Web of Science ®Google Scholar
• Belisario AR, Rodrigues CV, Martins ML, et al. Coinheritance of α-thalassaemia decreases the risk of cerebrovascular disease in a cohort of children with sickle cell anaemia. Hemoglobin. 2010;34(6):516–529.
   PubMed Web of Science ®Google Scholar
• Hsu LL, Miller ST, Wright E, et al. α Thalassaemia is associated with decreased risk of abnormal transcranial Doppler ultrasonography in children with sickle cell anaemia. J Pediatr Hematol Oncol. 2003;25(8):622–628.
   PubMed Web of Science ®Google Scholar
• Vasavda N, Menzel S, Kondaveeti S, et al. The linear effects of α-thalassaemia, the UGT1A1 and HMOX1 polymorphisms on cholelithiasis in sickle cell disease. Br J Haematol. 2007;138(2):263–270.
   PubMed Web of Science ®Google Scholar
• Miller ST, Milton J, Steinberg MH. G6PD deficiency and stroke in the CSSCD. Am J Hematol. 2011;86(3):331. doi: 10.1002/ajh.21958.
   PubMed Web of Science ®Google Scholar
• Rees DC, Lambert C, Cooper E, et al. Glucose 6 phosphate dehydrogenase deficiency is not associated with cerebrovascular disease in children with sickle cell anaemia. Blood. 2009;114(3):742–743; author reply: 743–744.
   PubMed Web of Science ®Google Scholar
• Bernaudin F, Verlhac S, Chevret S, et al. G6PD deficiency, absence of α-thalassaemia, and hemolytic rate at baseline are significant independent risk factors for abnormally high cerebral velocities in patients with sickle cell anaemia. Blood. 2008;112(10):4314–4317.
   PubMed Web of Science ®Google Scholar
• Hellani A, Al-Akoum S, Abu-Amero KK. G6PD Mediterranean S188F codon mutation is common among Saudi sickle cell patients and increases the risk of stroke. Genet Test Mol Biomarkers. 2009;13(4):449–452.
   PubMed Web of Science ®Google Scholar
• Joly P, Garnier N, Kebaili K, et al. G6PD deficiency and absence of α-thalassaemia increase the risk for cerebral vasculopathy in children with sickle cell anaemia. Eur J Haematol. 2015;96(4):404–408.
   PubMed Web of Science ®Google Scholar
• Labie D, Nagel RL. Genetic heterogeneity of sickle mutations. Acta Haematol. 1987;78(2-3):184–185.
   PubMed Web of Science ®Google Scholar
• Labie D, Dunda-Belkhodja O, Rouabhi F, et al. The –158 site 5′ to the Gγ gene and Gγ expression. Blood. 1985;66(6):1463–1465.
   PubMed Web of Science ®Google Scholar
• Nagel RL, Rao SK, Dunda-Belkhodja O, et al. The hematologic characteristics of sickle cell anaemia bearing the Bantu haplotype: the relationship between G gamma and HbF level. Blood. 1987;69(4):1026–1030.
   PubMed Web of Science ®Google Scholar
• Powars DR, Meiselman HJ, Fisher TC, et al. βS Gene cluster haplotypes modulate hematologic and hemorheologic expression in sickle cell anaemia. Use in predicting clinical severity. Am J Pediatr Hematol Oncol. 1994;16(1):55–61.
   PubMedGoogle Scholar
• Diagne I, Diagne-Gueye ND, Signate-Sy H, et al. [Management of children with sickle cell disease in Africa: experience in a cohort of children at the Royal Albert Hospital in Dakar]. Med Trop. 2003;63(4-5):513–520.
   PubMedGoogle Scholar
• Newton CR, Graham A, Heptinstall LE, et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res. 1989;17(7):2503–2516.
   PubMed Web of Science ®Google Scholar
• Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassaemia. Blood. 2000;95(1):360–362.
   PubMed Web of Science ®Google Scholar
• Joly P, Lacan P, Garcia C, et al. Rapid genotyping of two common G6PD variants, African (A-) and Mediterranean, by high-resolution melting analysis. Clin Biochem. 2009;43(1-2):193–197.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Diagne I, Ndiaye O, Moreira C, et al. [Sickle cell disease in children in Dakar, Senegal]. Arch Pediatr. 2000;7(1):16–24.
   PubMed Web of Science ®Google Scholar
• Kasili EG. The geographical distribution of some abnormal hemoglobins in Eastern Africa. In: Winter W, Editor. Hemoglobin Variants in Human Populations. Boca Raton, FL, USA: CRC Press. 1987:30–43.
   Google Scholar
• Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford, Oxfordshire, UK: Blackwell Science, 2001.
   Google Scholar
• Bain BJ, Wild BJ, Stephens AD, Phelan LA. Variant Hemoglobins: A Guide to Identification. Hoboken, NJ, USA: Blackwell Publishing Ltd., 2010.
   Google Scholar
• Millimono TS, Loua KM, Rath SL, et al. High prevalence of hemoglobin disorders and glucose-6-phosphate dehydrogenase (G6PD) deficiency in the Republic of Guinea (West Africa). Hemoglobin. 2012;36(1):25–37.
   PubMed Web of Science ®Google Scholar
• Falusi AG, Esan GJ, Ayyub H, Higgs DR. α-Thalassaemia in Nigeria: its interaction with sickle-cell disease. Eur J Haematol. 1987;38(4):370–375.
   PubMed Web of Science ®Google Scholar
• Mouele R, Pambou O, Feingold J, Galacteros F. α-Thalassaemia in Bantu population from Congo-Brazzaville: its interaction with sickle cell anaemia. Hum Hered. 2000;50(2):118–125.
   PubMed Web of Science ®Google Scholar
• Lubega I, Ndugwa CM, Mworozi EA, Tumwine JK. α Thalassemia among sickle cell anaemia patients in Kampala, Uganda. Afr Heath Sci. 2015;15(2):682–689.
   PubMed Web of Science ®Google Scholar
• Cox SE, Makani J, Newton CR, et al. Hematological and genetic predictors of daytime hemoglobin saturation in Tanzanian children with and without sickle cell anaemia. ISRN Hematol. 2013;2013:472909. doi: 10.1155/2013/472909.
   PubMedGoogle Scholar
• Ojwang PJ, Ogada T, Beris P, et al. Haplotypes and α globin gene analyses in sickle cell anaemia patients from Kenya. Br J Haematol. 1987;65(2):211–215.
   PubMed Web of Science ®Google Scholar
• Enevold A, Alifrangis M, Sanchez JJ, et al. Associations between α+-thalassaemia and Plasmodium falciparum malarial infection in northeastern Tanzania. J Infect Dis. 2007;196(3):451–459.
   PubMed Web of Science ®Google Scholar
• Currat M, Trabuchet G, Rees D, et al. Molecular analysis of the β-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the βS Senegal mutation. Am J Hum Genet. 2002;70(1):207–223.
   PubMed Web of Science ®Google Scholar
• Langaney A, Gomila J. Bedik and Niokholonko intra and inter-ethnic migration. Hum Biol. 1973;45(2):137–150.
   PubMed Web of Science ®Google Scholar
• Vulliamy TJ, Othman A, Town M, et al. Polymorphic sites in the African population detected by sequence analysis of the glucose-6-phosphate dehydrogenase gene outline the evolution of the variants A and A(–). Proc Natl Acad Sci USA. 1991;88(19):8568–8571.
   PubMed Web of Science ®Google Scholar
• Xu W, Westwood B, Bartsocas CS, et al. Glucose-6 phosphate dehydrogenase mutations and haplotypes in various ethnic groups. Blood. 1995;85(1):257–263.
   PubMed Web of Science ®Google Scholar
• Diop S, Sene A, Cisse M, et al. [Prevalence and morbidity of G6PD deficiency in sickle cell disease in the homozygote]. Dakar Med. 2005;50(2):56–60.
   PubMedGoogle Scholar
• Miao JK, Chen QX, Bao LM, et al. Determination of optimal cutoff value to accurately identify glucose-6-phosphate dehydrogenase-deficient heterozygous female neonates. Clin Chim Acta. 2013;424:131–135.
   PubMed Web of Science ®Google Scholar
• De Araujo C, Migot-Nabias F, Guitard J, et al. The role of the G6PD AEth376G/068C allele in glucose-6-phosphate dehydrogenase deficiency in the seerer population of Senegal. Haematologica. 2006;91(2):262–263.
   PubMed Web of Science ®Google Scholar
• Maiga B, Dolo A, Campino S, et al. Glucose-6-phosphate dehydrogenase polymorphisms and susceptibility to mild malaria in Dogon and Fulani, Mali. Malar J. 2014;13:270. doi: 10.1186/1475-2875-13-270.
   PubMed Web of Science ®Google Scholar
• Ouattara AK, Yameogo P, Diarra B, et al. Molecular heterogeneity of glucose-6-phosphate dehydrogenase deficiency in Burkina Faso: G-6-PD Betica Selma and Santamaria in people with symptomatic malaria in Ouagadougou. Mediterr J Hematol Infect Dis. 2016;8(1):e2016029. doi: 10.4084/MJHID.2016.029.
   PubMed Web of Science ®Google Scholar
• Rovira A, Vives Corrons JL, Estrada M, et al. [Identification of molecular variants of the enzyme glucose-6-phosphate dehydrogenase by the polymerase chain reaction technique]. Med Clin (Barc). 1994;102(8):281–284.
   PubMed Web of Science ®Google Scholar
• Beutler E, Kuhl W, Saenz GF, Rodriguez W. Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica. Hum Genet. 1991:87(4):462–464.
   PubMed Web of Science ®Google Scholar