Overview of current progress and challenges in diagnosis, and management of pediatric sickle cell disease in Democratic Republic of the Congo

References

• CDC. Hemoglobinopathies: current practices for screening, confirmation and follow-up. APHL. 2015. [Cited 2021 January 12]. Available from: https://www.cdc.gov/ncbddd/sicklecell/documents/nbs_hemoglobinopathy-testing_122015.pdf.
   Google Scholar
• Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42:D1063–9. DOI:10.1093/nar/gkt911. Epub 2013 Oct 16.
   PubMed Web of Science ®Google Scholar
• Greene DN, Vaughn CP, Crews BO, et al. Advances in detection of hemoglobinopathies. Clin Chim Acta. 2015;439:50–57. DOI:10.1016/j.cca.2014.10.006.
   PubMed Web of Science ®Google Scholar
• 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 Jan 12;381(9861):142–151. DOI:10.1016/S0140-6736(12)61229-X.
   PubMed Web of Science ®Google Scholar
• Kazadi AL, Ngiyulu RM, Gini-Ehungu JL, et al. The clinical characteristics of Congolese children and adolescents suffering from sickle-cell anemia are marked by the high frequencies of epistaxis compared to western series. Pediatr Hematol Oncol. 2019;36(5):267–276. DOI:10.1080/08880018.2017.1365397.
   PubMed Web of Science ®Google Scholar
• Kondani DA, Gini-Ehungu JL, Bodi JM, et al. Prevalence of sickle cell disease in a pediatric population suffering from severe infections: a Congolese experience. Hemoglobin. 2014;38(4):225–229. DOI:10.3109/03630269.2014.917658.
   PubMed Web of Science ®Google Scholar
• Aloni MN, Kadima BT, Ekulu PM, et al. Acute crises and complications of sickle cell anemia among patients attending a pediatric tertiary unit in Kinshasa, Democratic Republic of Congo. Hematol Rep. 2017;9:6952. DOI:10.4081/hr.2017.6952
   PubMed Web of Science ®Google Scholar
• Makani J, Cox SE, Soka D, et al. Mortality in sickle cell anemia in Africa: A prospective cohort study in Tanzania. PLoS One. 2011;6:e14699. DOI:10.1371/journal.pone.0014699.
   PubMed Web of Science ®Google Scholar
• Makani J, Ofori-Acquah SF, Nnodu O, et al. Sickle cell disease: new opportunities and challenges in Africa. Sci World J. 2013: 193252. DOI:10.1155/2013/193252.
   Google Scholar
• WHO. Sixtieth session of the WHO Regional Committee for Africa. 2019. [Cited 2021 January 12]. Available from: https://www.afro.who.int/about-us/governance/sessions/sixty-ninth-session-who-regional-committee-africa.
   Google Scholar
• Kasai ET, Opara JPA, Agasa SB. Acceptabilité du Dépistage néonatal de la drépanocytose au cours de la pandémie au Covid-19 à kisangani, en République Démocratique du Congo. Pan African J Med. 2020;37:299. DOI:10.11604/pamj.2020.37.299.26654.
   PubMedGoogle Scholar
• OMS. Soixante-dixième session du Comité régional de l’OMS pour l’Afrique, 2020. [Cited 2021 september 9]. Available from: https://www.afro.who.int/fr/about-us/governance/sessions/soixante-dixieme-session-du-comite-regional-de-loms-pour-lafrique.
   Google Scholar
• Hustace T, Fleisher JM, Sanchez-Varela AM, et al. Increased prevalence of false-positive hemoglobinopathy newborn screening in premature infants. Pediatr Blood Cancer. 2011;57:1039–1043. DOI:10.1002/pbc.23173.
   PubMed Web of Science ®Google Scholar
• Franco RS, Yasin Z, Palascak MB, et al. The effect of fetal hemoglobin on the survival characteristics of sickle cells. Blood. 2006;108(3):1073–1076. DOI:10.1182/blood-2005-09-008318.
   PubMed Web of Science ®Google Scholar
• Kasai ET, Boemer F, Djang’eing’a RM, et al. Systematic screening of neonatal sickle cell disease with HemoTypeSC Kit-test: case study and literature review. Open J Blood Diseases. 2020;10:12–21. DOI:10.4236/2Fojbd.2020.101002.
   Google Scholar
• Tshilolo L, Aissi LM, Lukusa D, et al. Neonatal screening for sickle cell anaemia in the Democratic Republic of the Congo: experience from a pioneer project on 31204 newborns. J Clin Pathol. 2009;62:35–38. DOI:10.1136/jcp.2008.058958.
   PubMed Web of Science ®Google Scholar
• Ung R, Alapan Y, Hasan MN, et al. Point-of-care screening for sickle cell disease by a mobile micro-electrophoresis platform. Blood. 2015;126(23):3379–3379.
   Web of Science ®Google Scholar
• Alapan Y, Fraiwan A, Kucukal E, et al. Emerging point-of-care technologies for sickle cell disease screening and monitoring. Expert Rev Med Devices. 2016;13(12):1073–1093. DOI:10.1080/17434440.2016.1254038.
   PubMed Web of Science ®Google Scholar
• Agasa B, Bosunga K, Opara A, et al. Prevalence of sickle cell disease in a northeastern region of the Democratic Republic of Congo: what impact on transfusion policy? Transfus Med. 2010;20(1):62–65. DOI:10.1111/j.1365-3148.2009.00943.x.
   PubMed Web of Science ®Google Scholar
• Olatunya OS, Albuquerque DM, Fagbamigbe AF, et al. Diagnostic accuracy of HemotypeSC as a point-of-care testing device for sickle cell disease: findings from a southwestern state in Nigeria and implications for patient care in resource poor settings of sub-Saharan Africa. Global Pediatr Health. 2021;8:1–10. DOI:10.1177/2333794X211016789.
   Google Scholar
• Upadhye DS, Jain DL, Trivedi YL, et al. Newborn screening for haemoglobinopathies by high-performance liquid chromatography (HPLC): diagnostic utility of different approaches in resource-poor settings. Clin Chem Lab Med. 2014;52:1791–1796. DOI:10.1515/cclm-2014-0452.
   PubMed Web of Science ®Google Scholar
• Clark BE, Thein SL. Molecular diagnosis of hemoglobin disorders. Clin Lab Haematol. 2004;26(3):159–176. DOI:10.1111/j.1365-2257.2004.00607.x.
   PubMedGoogle Scholar
• Yue L, Lin M, Chen JT, et al. Rapid screening for sickle cell disease by polymerase chain reaction-high resolution melting analysis. Mol Med Rep. 2014;9:2479–2484. DOI:10.3892/mmr.2014.2130.
   PubMed Web of Science ®Google Scholar
• Kadima BT, Gini-Ehungu JL, Ngiyulu RM, et al. High rate of sickle cell anemia in Sub-Saharan Africa underlines the need to screen all children with severe anaemia for the disease. Acta Paediatr. 2015;104(12):1269–1273. DOI:10.1111/apa.13040.
   PubMed Web of Science ®Google Scholar
• Mutesa L, Boemer F, Ngendahayo L, et al. Neonatal screening for sickle cell disease in Central Africa: a study of 1825 newborns with a new enzyme-linked immunosorbent assay test. J Med Screen. 2007;14(3):113–116. DOI:10.1258/096914107782066211.
   PubMed Web of Science ®Google Scholar
• Loufoua-Lemay ABM, Makoumbou P, Babela JRM. Dépistage néonatal de la drépanocytose au Congo Brazzaville. Ann L'Univ Marien Ngouabi. 2010;11(5):21–25.
   Google Scholar
• Délicat-Loembeta M, Elguero E, Arnathau C, et al. Prevalence of the sickle cell trait in Gabon: a nationwide study. Infect Genet Evol. 2014;25:52–56. DOI:10.1016/j.meegid.2014.04.003.
   PubMed Web of Science ®Google Scholar
• Nankanja R, Kiyaga C, Geisberg M, et al. Implementation of a sickle cell disease screening initiative in Uganda with HemoTypeSCTM. Blood. 2018;132(1):LBA–LB3. DOI:10.1182/blood-2018-120839.
   Google Scholar
• Adam MA, Adam NK, Mohamed BA. Prevalence of sickle cell disease and sickle cell trait among children admitted to Al Fashir teaching hospital north Darfur state, Sudan. BMC Res Notes. 2019;12:659. DOI:10.1186/s13104-019-4682-5
   PubMed Web of Science ®Google Scholar
• McAuley CF, Webb C, Makani J. High mortality from Plasmodium falciparum malaria in children living with sickle cell anemia on the coast of Kenya. Blood. 2010;116:1663–1668. DOI:10.1182/blood-2010-01-265249.
   PubMed Web of Science ®Google Scholar
• McGann PT, Ferris MG, Ramamurthy U, et al. A prospective newborn screening and treatment program for sickle cell anemia in Luanda, Angola. Am J Hematol. 2013;88:984–989. DOI:10.1002/ajh.23578.
   PubMed Web of Science ®Google Scholar
• Cox SE, Doherty CP, Atkinson SH. Haptoglobin genotype, anemia, and malaria in Gambian children. Trop Med Int Health. 2008;13:76–82. DOI:10.1002/ajh.23578.
   PubMed Web of Science ®Google Scholar
• Simpore J, Pignatelli S, Barlati S, et al. Modification in the frequency of Hb C and Hb S in Burkina Faso: influence of migratory fluxes and improvement of patient health care. Hemoglobin. 2002;26:113–120. DOI:10.1081/hem-120005448.
   PubMed Web of Science ®Google Scholar
• Danquah I, Ziniel P, Eggelte TA, et al. Influence of haemoglobins S and C on predominantly asymptomatic Plasmodium infections in northern Ghana. Trans R Soc Trop Med Hyg. 2010;104:713–719. DOI:10.1016/j.trstmh.2010.08.001.
   PubMed Web of Science ®Google Scholar
• Fleming AF, Storey J, Molineaux L, et al. Abnormal hemoglobins in the Sudan savanna of Nigeria. I. Prevalence of hemoglobins and relationships between sickle cell trait, malaria, and survival. Ann Trop Med, Parasitol. 1979;73:161–172. DOI:10.1080/00034983.1979.11687243.
   PubMed Web of Science ®Google Scholar
• Diallo DA, Guindo A, Touré BA, et al. Targeted newborn screening for sickle-cell anemia: sickling test (Emmel test) boundaries in the prenatal assessment in West African area. Rev Epidemiol Sante Publ. 2018;66(3):181–185. DOI:10.1016/j.respe.2018.02.007.
   PubMed Web of Science ®Google Scholar
• Nkya S, Mtei L, Soka D, et al. Newborn screening for sickle cell disease: an innovative pilot program to improve child survival in Dar es Salaam, Tanzania. Int Health. 2019;11:589–595. DOI:10.1093/inthealth/ihz028.
   PubMed Web of Science ®Google Scholar
• WHO. Sickle-cell disease: a strategy for the WHO African region. 2010. [Cited 2021 September 12]. Available from: https://apps.who.int/iris/handle/10665/1682.
   Google Scholar
• Aloni MN, Nkee L. Challenge of managing sickle cell disease in a pediatric population living in Kinshasa, Democratic Republic of Congo: a sickle cell center experience. Hemoglobin. 2014;38(3):196–200. DOI:10.3109/03630269.2014.896810.
   PubMed Web of Science ®Google Scholar
• Kambale-Kombi P, Djang’eing’a RM, Opara JPA, et al. Students’ knowledge on sickle cell disease in Kisangani, Democratic Republic of the Congo. Hematology. 2020;25:91–94. DOI:10.1080/16078454.2020.1727174.
   PubMed Web of Science ®Google Scholar
• Mukinayi BM, Kalenda DK, Mbelu S, et al. Awareness and attitudes of 50 Congolese families affected by sickle cell disease: a local survey. Pan Afr Med J. 2018;29:24. DOI:10.11604/pamj.2018.29.24.12276
   PubMed Web of Science ®Google Scholar
• Kambale-Kombi P, Djang’eing’a RM, Opara JPA, et al. Management of sickle cell disease: current practices and challenges in a northeastern region of the Democratic Republic of the Congo. Hematology. 2021;26(1):199–205. DOI:10.1080/16078454.2021.1880752.
   PubMed Web of Science ®Google Scholar
• Batina SA, Kambale PK, Sabiti MP, et al. Barriers to healthcare for sickle cell disease patients in the Democratic Republic Congo. Afr J Health Issues. 2017;1:2. DOI:10.26875/ajhi112017ii.
   Google Scholar
• Marks LJ, Munube D, Kasirye P, et al. Stroke prevalence in children with sickle cell disease in Sub-Saharan Africa: a systematic review and meta-analysis. Global Pediatr Health. 2018;5:1–9. DOI:10.1177/2333794X18774970.
   Google Scholar
• Adams RJ, McKie VC, Hsu L, et al. Prevention of a first stroke by transfusions in children with sickle cell anemia and abnormal results on transcranial Doppler ultrasonography. N Engl J Med. 1998;339(1):5–11. DOI:10.1056/NEJM199807023390102.
   PubMed Web of Science ®Google Scholar
• Kimaro FD, Jumanne S, Sindato EM, et al. Prevalence and factors associated with renal dysfunction among children with sickle cell disease attending the sickle cell disease clinic at a tertiary hospital in Northwestern Tanzania. PLoS One. 2019;14(6):e0218024. DOI:10.1371/journal.pone.0218024.
   PubMed Web of Science ®Google Scholar
• Ahmad FA, Macias CG, Allen JY. The use of incentive spirometry in pediatric patients with sickle cell disease to reduce the incidence of acute chest syndrome. J Pediatr Hematol Oncol. 2011;33(6):415–420. DOI:10.1097/MPH.0b013e31821ed4ce.
   PubMed Web of Science ®Google Scholar
• Mabiala-Babela JR, Nika ER, Ikobo LCO, et al. Homozygous sickle cell children treated with Hydroxyurea in Brazzaville (Congo). Bull Soc Pathol Exotiq. 2019;112(4):206–212. DOI:10.3166/bspe-2019-0096.
   PubMed Web of Science ®Google Scholar
• Mukinayi BM, Cibeyibeyi GK, Tumba GD. Drépanocytose en République Démocratique du Congo: quels sont les obstacles à un traitement par hydroxyurée? PAM. 2021;38(41) disponible dans https://www.panafrican-med-journal.com/content/article/38/41/full visited on 8thmarch 2021.
   Google Scholar
• Tshilolo L, Tomlinson G, Williams TN, et al. Hydroxyurea for children with sickle cell anemia in Sub-Saharan Africa. N Engl J Med. 2019;380:121–131. DOI:10.1056/NEJMoa1813598.
   PubMed Web of Science ®Google Scholar
• DeBaun MR, Jordan LC, King AA, et al. American Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and adults. Blood Adv. 2020;4(8):1554–1588. DOI:10.1182/bloodadvances.2019001142.
   PubMed Web of Science ®Google Scholar
• CDC. Immunization of health-care personnel: recommendations of the Advisory Committee on Immunization Practices (ACIP). MMWR Recomm Rep. 2011;60(RR-7):1–45.
   Google Scholar
• Tshilolo L, Aissi LM, Ngasia B. Guide pratique de diagnostic précoce et de prise en de la drépanocytose en RDC. Centre de Formation et d’Appui sanitaire. RDC, 2009.
   Google Scholar
• Arbuthnot P, Maepa MB, Pepper MS. The state of gene therapy research in Africa, its significance and implications for the future. gene therapy. Gene Ther. 2017;24(9):581–589. DOI:10.1038/gt.2017.57.
   PubMed Web of Science ®Google Scholar