Sickle cell disease: new opportunities and challenges in Africa

J Makani, S F Ofori-Acquah, O Nnodu, A Wonkam, K Ohene-Frempong, J Makani, S F Ofori-Acquah, O Nnodu, A Wonkam, K Ohene-Frempong

Abstract

Sickle cell disease (SCD) is one of the most common genetic causes of illness and death in the world. This is a review of SCD in Africa, which bears the highest burden of disease. The first section provides an introduction to the molecular basis of SCD and the pathophysiological mechanism of selected clinical events. The second section discusses the epidemiology of the disease (prevalence, morbidity, and mortality), at global level and within Africa. The third section discusses the laboratory diagnosis and management of SCD, emphasizing strategies that been have proven to be effective in areas with limited resources. Throughout the review, specific activities that require evidence to guide healthcare in Africa, as well as strategic areas for further research, will be highlighted.

Figures

Figure 1
Figure 1
Developmental control of human haemoglobin (Hb) expression [6].
Figure 2
Figure 2
Selected clinical consequences of SCD.
Figure 3
Figure 3
RFLP of HBB fragment with DdeI. Lane 1: undigested control, Lane 2: HbAA control, Lane 3: HbAS control, and Lane 4: HbSS MW: molecular weight marker.

References

    1. Onwubalili JK. Sickle cell anaemia and reincarnation beliefs in Nigeria. The Lancet. 1983;2(8364):p. 1423.
    1. Nzewi E. Malevolent ogbanje: recurrent reincarnation or sickle cell disease? Social Science and Medicine. 2001;52(9):1403–1416.
    1. Antonarakis SE, Boehm CD, Serjeant GR, Theisen CE, Dover GJ, Kazazian HH., Jr. Origin of the β(S) globin gene in Blacks: the contribution of recurrent mutation or gene conversion or both. Proceedings of the National Academy of Sciences of the United States of America. 1984;81(3):853–856.
    1. Kulozik AE, Wainscoat JS, Serjeant GR, et al. Geographical survey of β(S)-globin gene haplotypes: evidence for an independent Asian origin of the sickle-cell mutation. American Journal of Human Genetics. 1986;39(2):239–244.
    1. Weatherall DJ. Towards molecular medicine; reminiscences of the haemoglobin field, 1960–2000. British Journal of Haematology. 2001;115(4):729–738.
    1. Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Reviews Genetics. 2001;2(4):245–255.
    1. Stuart MJ, Nagel RL. Sickle-cell disease. The Lancet. 2004;364(9442):1343–1360.
    1. Nagel RL, Bookchin RM, Johnson J. Structural bases of the inhibitory effects of hemoglobin F and hemoglobin A2 on the polymerization of hemoglobin S. Proceedings of the National Academy of Sciences of the United States of America. 1979;76(2):670–672.
    1. Noguchi CT, Torchia DA, Schechter AN. Intracellular polymerization of sickle hemoglobin. Effects of cell heterogeneity. The Journal of Clinical Investigation. 1983;72(3):846–852.
    1. Brugnara C, Bunn HF, Tosteson DC. Regulation of erythrocyte cation and water content in sickle cell anemia. Science. 1986;232(4748):388–390.
    1. Westerman MP, Unger L, Kucuk O, Quinn P, Lis LJ. Phase changes in membrane lipids in sickle red cell shed-vesicles and sickle red cells. American Journal of Hematology. 1998;58(3):177–182.
    1. Hebbel RP, Boogaerts MAB, Eaton JW, Steinberg MH. Erythrocyte adherence to endothelium in sickle-cell anemia. A possible determinant of disease severity. The New England Journal of Medicine. 1980;302(18):992–995.
    1. Frenette PS. Sickle cell vasoocclusion: heterotypic, multicellular aggregations driven by leukocyte adhesion. Microcirculation. 2004;11(2):167–177.
    1. Okpala I. Leukocyte adhesion and the pathophysiology of sickle cell disease. Current Opinion in Hematology. 2006;13(1):40–44.
    1. Ataga KI, Orringer EP. Hypercoagulability in sickle cell disease: a curious paradox. American Journal of Medicine. 2003;115(9):721–728.
    1. Wautier J-L, Wautier M-P. Erythrocytes and platelet adhesion to endothelium are mediated by specialized molecules. Clinical Hemorheology and Microcirculation. 2004;30(3-4):181–184.
    1. Villagra J, Shiva S, Hunter LA, Machado RF, Gladwin MT, Kato GJ. Platelet activation in patients with sickle disease, hemolysis-associated pulmonary hypertension, and nitric oxide scavenging by cell-free hemoglobin. Blood. 2007;110(6):2166–2172.
    1. Gladwin MT, Kato GJ. Hemolysis-associated hypercoagulability in sickle cell disease: the plot (and blood) thickens! Haematologica. 2008;93(1):1–3.
    1. Reiter CD, Wang X, Tanus-Santos JE, et al. Cell-free hemoglobin limits nitric oxide bioavailability in sickle-cell disease. Nature Medicine. 2002;8(12):1383–1389.
    1. de Montalembert M, Guilloud-Bataille M, Feingold J, Girot R. Epidemiological and clinical study of sickle cell disease in France, French Guiana and Algeria. European Journal of Haematology. 1993;51(3):136–140.
    1. Pattison JR, Jones SE, Hodgson J, et al. Parvovirus infections and hypoplastic crisis in sickle-cell anaemia. The Lancet. 1981;1(8221):664–665.
    1. Platt OS, Thorington BD, Brambilla DJ, et al. Pain in sickle cell disease—rates and risk factors. The New England Journal of Medicine. 1991;325(1):11–16.
    1. Gill FM, Sleeper LA, Weiner SJ, et al. Clinical events in the first decade in a cohort of infants with sickle cell disease. Blood. 1995;86(2):776–783.
    1. West TB, West DW, Ohene-Frempong K. The presentation, frequency, and outcome of bacteremia among children with sickle cell disease and fever. Pediatric Emergency Care. 1994;10(3):141–143.
    1. Wierenga KJJ, Hambleton IR, Wilson RM, Alexander H, Serjeant BE, Serjeant GR. Significance of fever in Jamaican patients with homozygous sickle cell disease. Archives of Disease in Childhood. 2001;84(2):156–159.
    1. Gaston MH, Verter JI, Woods G. Prophylaxis with oral penicillin in children with sickle cell anemia. A randomized trial. The New England Journal of Medicine. 1986;314(25):1593–1599.
    1. American Academy of Pediatrics. Committee on Infectious Diseases. Policy statement: recommendations for the prevention of pneumococcal infections, including the use of pneumococcal conjugate vaccine (Prevnar), pneumococcal polysaccharide vaccine, and antibiotic prophylaxis. Pediatrics. 2000;106(2, part 1):362–366.
    1. Kizito ME, Mworozi E, Ndugwa C, Serjeant GR. Bacteraemia in homozygous sickle cell disease in Africa: is pneumococcal prophylaxis justified? Archives of Disease in Childhood. 2007;92(1):21–23.
    1. Williams TN, Uyoga S, Macharia A, et al. Bacteraemia in Kenyan children with sickle-cell anaemia: a retrospective cohort and case-control study. The Lancet. 2009;374(9698):1364–1370.
    1. Obaro S. Pneumococcal infections and sickle cell disease in Africa: does absence of evidence imply evidence of absence? Archives of Disease in Childhood. 2009;94(9):713–716.
    1. Tshilolo L, Kafando E, Sawadogo M, et al. Neonatal screening and clinical care programmes for sickle cell disorders in sub-Saharan Africa: lessons from pilot studies. Public Health. 2008;122(9):933–941.
    1. Bagasra O, Steiner RM, Ballas SK. Viral burden and disease progression in HIV-1-infected patients with sickle cell anemia. American Journal of Hematology. 1998;59(3):199–207.
    1. Diagne I, Soares GM, Gueye A, et al. Infections in Senegalese children and adolescents with sickle cell anemia: epidemiological aspects. Dakar Médical. 2000;45(1):55–58.
    1. Hassan M, Hasan S, Giday S, et al. Hepatitis C virus in sickle cell disease. Journal of the National Medical Association. 2003;95(10):939–942.
    1. Tshilolo LM, Mukendi RK, Wembonyama SO. Blood transfusion rate in congolese patients with sickle cell anemia. Indian Journal of Pediatrics. 2007;74(8):735–738.
    1. Blei F, Puder DR. Yersinia enterocolitica bacteremia in a chronically transfused patient with sickle cell anemia: case report and review of the literature. American Journal of Pediatric Hematology/Oncology. 1993;15(4):430–434.
    1. Barrett-Connor E. Bacterial infection and sickle cell anemia. An analysis of 250 infections in 166 patients and a review of the literature. Medicine. 1971;50(2):97–112.
    1. Serjeant GR, Serjeant BE, Thomas PW, Anderson MJ, Patou G, Pattison JR. Human parvovirus infection in homozygous sickle cell disease. The Lancet. 1993;341(8855):1237–1240.
    1. Smith-Whitley K, Zhao H, Hodinka RL, et al. Epidemiology of human parvovirus B19 in children with sickle cell disease. Blood. 2004;103(2):422–427.
    1. Jones PH, Pickett LC, Anderson MJ, Pasvol G. Human parvovirus infection in children and severe anaemia seen in an area endemic for malaria. Journal of Tropical Medicine and Hygiene. 1990;93(1):67–70.
    1. Teuscher T, Baillod B, Holzer BR. Prevalence of human parvovirus B19 in sickle cell disease and healthy controls. Tropical and Geographical Medicine. 1991;43(1-2):108–110.
    1. Yeats J, Daley H, Hardie D. Parvovirus B19 infection does not contribute significantly to severe anaemia in children with malaria in Malawi. European Journal of Haematology. 1999;63(4):276–277.
    1. Pearson HA, Spencer RP, Cornelius EA. Functional asplenia in sickle-cell anemia. The New England Journal of Medicine. 1969;281(17):923–926.
    1. Brown AK, Sleeper LA, Miller ST, Pegelow CH, Gill FM, Waclawiw MA. Reference values and hematologic changes from birth to 5 years in patients with sickle cell disease. Archives of Pediatrics and Adolescent Medicine. 1994;148(8):796–804.
    1. Noel GJ, Katz S, Edelson PJ. Complement-mediated early clearance of Haemophilus influenzae type b from blood is independent of serum lytic activity. Journal of Infectious Diseases. 1988;157(1):85–90.
    1. Winkelstein JA, Drachman RH. Deficiency of pneumococcal serum opsonizing activity in sickle-cell disease. The New England Journal of Medicine. 1968;279(9):459–466.
    1. Ruddy S, Hunsicker LG, Austen KF. C3b inactivator of man. 3. Further purification and production of antibody to C3b INA. Journal of Immunology. 1972;108(3):657–664.
    1. Johnston RB, Jr., Newman SL, Struth AG. An abnormality of the alternate pathway of complement activation in sickle-cell disease. The New England Journal of Medicine. 1973;288(16):803–808.
    1. Leikin SL, Gallagher D, Kinney TR, Sloane D, Klug P, Rida W. Mortality in children and adolescents with sickle cell disease. Pediatrics. 1989;84(3):500–508.
    1. Okuonghae HO, Nwankwo MU, Offor EC. Pattern of bacteraemia in febrile children with sickle cell anaemia. Annals of Tropical Paediatrics. 1993;13(1):55–64.
    1. Hook EW, Campbell CG, Weens HS, Cooper BR. Salmonella osteomyelitis in patients with sickle-cell anemia. The New England Journal of Medicine. 1957;257(9):403–407.
    1. Ebong WW. Acute osteomyelitis in Nigerians with sickle cell disease. Annals of the Rheumatic Diseases. 1986;45(11):911–915.
    1. Tshilolo L, Mukendi R, Girot R. Sickle cell disease in south Zaire. Study of two series of 251 and 340 patients during the period 1988–1992. Archives de Pediatrie. 1996;3(2):104–111.
    1. Castro O, Brambilla DJ, Thorington B, et al. The acute chest syndrome in sickle cell disease: incidence and risk factors. Blood. 1994;84(2):643–649.
    1. Vichinsky EP, Neumayr LD, Earles AN, et al. Causes and outcomes of the acute chest syndrome in sickle cell disease. The New England Journal of Medicine. 2000;342(25):1855–1865.
    1. Platt OS, Brambilla DJ, Rosse WF, et al. Mortality in sickle cell disease—life expectancy and risk factors for early death. The New England Journal of Medicine. 1994;330(23):1639–1644.
    1. Hayes RJ, Beckford M, Grandison Y, Mason K, Serjeant BE, Serjeant GR. The haematology of steady state homozygous sickle cell disease: frequency distributions, variation with age and sex, longitudinal observations. British Journal of Haematology. 1985;59(2):369–382.
    1. El-Hazmi MAF, Jabbar FA, Al-Faleh FZ, Al-Swailem AR, Warsy AS. The haematological, biochemical and clinical—presentation of haemoglobin S in Saudi Arabia (i). Haematological & clinical expression. Tropical and Geographical Medicine. 1987;39(2):157–162.
    1. Akenzua G, Akinyanju O, Kulozik A, et al. Sickle cell anaemia in Nigeria: a comparison between Benin and Lagos. African Journal of Medicine and Medical Sciences. 1994;23(2):101–107.
    1. Childs JW. Sickle cell disease: the clinical manifestations. Journal of the American Osteopathic Association. 1995;95(10):593–598.
    1. Neonato MG, Guilloud-Bataille M, Beauvais P, et al. Acute clinical events in 299 homozygous sickle cell patients living in france. European Journal of Haematology. 2000;65(3):155–164.
    1. Serjeant GR, Topley JM, Mason K, et al. Outbreak of aplastic crises in sickle cell anaemia associated with parvovirus-like agent. The Lancet. 1981;2(8247):595–597.
    1. Juwah AI, Nlemadim EU, Kaine W. Types of anaemic crises in paediatric patients with sickle cell anaemia seen in Enugu, Nigeria. Archives of Disease in Childhood. 2004;89(6):572–576.
    1. Nolan VG, Wyszynski DF, Farrer LA, Steinberg MH. Hemolysis-associated priapism in sickle cell disease. Blood. 2005;106(9):3264–3267.
    1. Kato GJ, McGowan V, Machado RF, et al. Lactate dehydrogenase as a biomarker of hemolysis-associated nitric oxide resistance, priapism, leg ulceration, pulmonary hypertension, and death in patients with sickle cell disease. Blood. 2006;107(6):2279–2285.
    1. Ballas SK, Marcolina MJ. Hyperhemolysis during the evolution of uncomplicated acute painful episodes in patients with sickle cell anemia. Transfusion. 2006;46(1):105–110.
    1. Taylor VI JG, Nolan VG, Mendelsohn L, Kato GJ, Gladwin MT, Steinberg MH. Chronic hyper-hemolysis in sickle cell anemia: association of vascular complications and mortality with less frequent vasoocclusive pain. PLoS One. 2008;3(5)e2095
    1. Olabode JO, Shokunbi WA. Types of crises in sickle cell disease patients presenting at the haematology day care unit (HDCU), University College Hospital (UCH), Ibadan. West African Journal of Medicine. 2006;25(4):284–288.
    1. Quinn CT, Shull EP, Ahmad N, Lee NJ, Rogers ZR, Buchanan GR. Prognostic significance of early vaso-occlusive complications in children with sickle cell anemia. Blood. 2007;109(1):40–45.
    1. Topley JM, Rogers DW, Stevens MCG, Serjeant GR. Acute splenic sequestration and hypersplenism in the first five years in homozygous sickle cell disease. Archives of Disease in Childhood. 1981;56(10):765–769.
    1. Emond AM, Collis R, Darvill D. Acute splenic sequestration in homozygous sickle cell disease: natural history and management. Journal of Pediatrics. 1985;107(2):201–206.
    1. Koshy M, Entsuah R, Koranda A, et al. Leg ulcers in patients with sickle cell disease. Blood. 1989;74(4):1403–1408.
    1. Durosinmi MA, Gevao SM, Esan GJ. Chronic leg ulcers in sickle cell disease: experience in Ibadan, Nigeria. African Journal of Medicine and Medical Sciences. 1991;20(1):11–14.
    1. Gbadoé AD, Géraldo A, Guédénon K, Koffi S, Agbétiafa K, Akpako P. Stuttering priapism in children with sickle cell anemia in Togo. Archives de Pediatrie. 2007;14(7):861–863.
    1. Ohene-Frempong K, Weiner SJ, Sleeper LA, et al. Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood. 1998;91(1):288–294.
    1. DeBaun MR, Schatz J, Siegel MJ, et al. Cognitive screening examinations for silent cerebral infarcts in sickle cell disease. Neurology. 1998;50(6):1678–1682.
    1. Kinney TR, Sleeper LA, Wang WC, et al. Silent cerebral infarcts in sickle cell anemia: a risk factor analysis. Pediatrics. 1999;103(3):640–645.
    1. Miller ST, Macklin EA, Pegelow CH, et al. Silent infarction as a risk factor for overt stroke in children with sickle cell anemia: a report from the Cooperative Study of Sickle Cell Disease. Journal of Pediatrics. 2001;139(3):385–390.
    1. Marouf R, Gupta R, Haider MZ, Adekile AD. Silent brain infarcts in adult Kuwaiti sickle cell disease patients. American Journal of Hematology. 2003;73(4):240–243.
    1. Hayes RJ, Condon PI, Serjeant GR. Haematological factors associated with proliferative retinopathy in sickle cell-haemoglobin C disease. British Journal of Ophthalmology. 1981;65(10):712–717.
    1. Castro O, Hoque M, Brown BD. Pulmonary hypertension in sickle cell disease: cardiac catheterization results and survival. Blood. 2003;101(4):1257–1261.
    1. Gladwin MT, Sachdev V, Jison ML, et al. Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. The New England Journal of Medicine. 2004;350(9):886–895.
    1. Ataga KI, Moore CG, Jones S, et al. Pulmonary hypertension in patients with sickle cell disease: a longitudinal study. British Journal of Haematology. 2006;134(1):109–115.
    1. Kato GJ, Onyekwere OC, Gladwin MT. Pulmonary hypertension in sickle cell disease: relevance to children. Pediatric Hematology and Oncology. 2007;24(3):159–170.
    1. Griffiths J. Avascular necrosis of femoral head in Kenyan africans. East African Medical Journal. 1968;45(9):613–618.
    1. Ebong WW. Avascular necrosis of the femoral head associated with haemoglobinopathy. Tropical and Geographical Medicine. 1977;29(1):19–23.
    1. Lee REJ, Golding JSR, Serjeant GR. The radiological features of avascular necrosis of the femoral head in homozygous sicke cell disease. Clinical Radiology. 1981;32(2):205–214.
    1. Abbott KC, Hypolite IO, Agodoa LY. Sickle cell nephropathy at end-stage renal disease in the United States: patient characteristics and survival. Clinical Nephrology. 2002;58(1):9–15.
    1. Fleming AF, Storey J, Molineaux L, Iroko EA, Attai ED. Abnormal haemoglobins in the Sudan savanna of Nigeria. I. Prevalence of haemoglobins and relationships between sickle cell trait, malaria and survival. Annals of Tropical Medicine and Parasitology. 1979;73(2):161–172.
    1. Fleming AF. The presentation, management and prevention of crisis in sickle cell disease in Africa. Blood Reviews. 1989;3(1):18–28.
    1. Overturf GD, Powars D, Baraff LJ. Bacterial meningitis and septicemia in sickle cell disease. American Journal of Diseases of Children. 1977;131(7):784–787.
    1. Campbell PJ, Olatunji PO, Ryan KE, Davies SC. Splenic regrowth in sickle cell anaemia following hypertransfusion. British Journal of Haematology. 1997;96(1):77–79.
    1. Yardumian A, Crawley C. Sickle cell disease. Clinical Medicine. 2001;1(6):441–446.
    1. Steinberg MH. Pathophysiology of sickle cell disease. Bailliere’s Clinical Haematology. 1998;11(1):163–184.
    1. Bunn HF. Pathogenesis and treatment of sickle cell disease. The New England Journal of Medicine. 1997;337(11):762–769.
    1. Labie D, Pagnier J, Lapoumeroulie C, et al. Common haplotype dependency of high (G)γ-globin gene expression and high Hb F levels in β-thalasssemia and sickle cell anemia patients. Proceedings of the National Academy of Sciences of the United States of America. 1985;82(7):2111–2114.
    1. Creary LE, Ulug P, Menzel S, et al. Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients. PLoS One. 2009;4(1)e4218
    1. Uda M, Galanello R, Sanna S, et al. Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of β-thalassemia. Proceedings of the National Academy of Sciences of the United States of America. 2008;105(5):1620–1625.
    1. Lettre G, Sankaran VG, Bezerra MAC, et al. DNA polymorphisms at the BCL11A, HBS1L-MYB, and β-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proceedings of the National Academy of Sciences of the United States of America. 2008;105(33):11869–11874.
    1. Sedgewick AE, Timofeev N, Sebastiani P, et al. BCL11A is a major HbF quantitative trait locus in three different populations with β-hemoglobinopathies. Blood Cells, Molecules, and Diseases. 2008;41(3):255–258.
    1. Thein SL, Menzel S. Discovering the genetics underlying foetal haemoglobin production in adults. British Journal of Haematology. 2009;145(4):455–467.
    1. Makani J, Menzel S, Nkya S, et al. Genetics of fetal hemoglobin in Tanzanian and British patients with sickle cell anemia. Blood. 2011;117(4):1390–1392.
    1. World Health Organisation. 59th World Health Assembly, 27 May 2006. Geneva, Switzerland: World Health Organisation; 2006. Sickle cell anaemia. Agenda item 11.4.
    1. Diallo D, Tchernia G. Sickle cell disease in Africa. Current Opinion in Hematology. 2002;9(2):111–116.
    1. Weatherall DJ, Akinyanju O, Fucharoen S, Olivieri NF, Musgrove P. Inherited disorders of hemoglobin. In: Jamison D, editor. Disease Control Priorities in Developing Countries. New York, NY, USA: Oxford University Press; 2006. pp. 663–680.
    1. Weatherall DJ. Hemoglobinopathies worldwide: present and future. Current Molecular Medicine. 2008;8(7):592–599.
    1. Enevold A, Lusingu JP, Mmbando B, et al. Reduced risk of uncomplicated malaria episodes in children with alpha+-thalassemia in Northeastern Tanzania. American Journal of Tropical Medicine and Hygiene. 2008;78(5):714–720.
    1. Williams TN, Wambua S, Uyoga S, et al. Both heterozygous and homozygous α + thalassemias protect against severe and fatal Plasmodium falciparum malaria on the coast of Kenya. Blood. 2005;106(1):368–371.
    1. Aidoo M, Terlouw DJ, Kolczak MS, et al. Protective effects of the sickle cell gene against malaria morbidity and mortality. The Lancet. 2002;359(9314):1311–1312.
    1. Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bulletin of the World Health Organization. 2001;79(8):704–712.
    1. Modiano D, Bancone G, Ciminelli BM, et al. Haemoglobin S and haemoglobin C: ‘quick but costly’ versus ‘slow but gratis’ genetic adaptations to Plasmodium falciparum malaria. Human Molecular Genetics. 2008;17(6):789–799.
    1. Simpore J, Pignatelli S, Barlati S, Musumeci S. Modification in the frequency of Hb C and Hb S in Burkina Faso: an influence of migratory fluxes and improvement of patient health care. Hemoglobin. 2002;26(2):113–120.
    1. Beighton P, Botha MC. Inherited disorders in the black population of southern Africa—part I: historical and demographic background; genetic haematological conditions. South African Medical Journal. 1986;69(4):247–249.
    1. World Health Organisation. Genomics and World Health, Report of the Advisory Committee on Health Research. Geneva, Switzerland: World Health Organisation; 2002.
    1. Molineaux L, Fleming AF, Cornille-Brogger R. Abnormal haemoglobins in the Sudan savanna of Nigeria. III. Malaria immunoglobulins and antimalarial antibodies in sickle cell disease. Annals of Tropical Medicine and Parasitology. 1979;73(4):301–310.
    1. Quinn CT, Rogers ZR, Buchanan GR. Survival of children with sickle cell disease. Blood. 2004;103(11):4023–4027.
    1. Telfer P, Coen P, Chakravorty S, et al. Clinical outcomes in children with sickle cell disease living in England: a neonatal cohort in East London. Haematologica. 2007;92(7):905–912.
    1. Thomas AN, Pattison C, Serjeant GR. Causes of death in sickle-cell disease in Jamaica. British Medical Journal. 1982;285(6342):633–635.
    1. Brozovic M, Anionwu E. Sickle cell disease in Britain. Journal of Clinical Pathology. 1984;37(12):1321–1326.
    1. Sankaran VG, Sapp MV. Persistence of fetal hemoglobin expression in an older child with trisomy 13. Journal of Pediatrics. 2012;160(2):p. 352.
    1. Lee A, Thomas P, Cupidore L, Serjeant B, Serjeant G. Improved survival in homozygous sickle cell disease: lessons from a cohort study. British Medical Journal. 1995;311(7020):1600–1602.
    1. Vichinsky E, Hurst D, Earles A, Kleman K, Lubin B. Newborn screening for sickle cell disease: effect on mortality. Pediatrics. 1988;81(6):749–755.
    1. Frempong T, Pearson HA. Newborn screening coupled with comprehensive follow-up reduced early mortality of sickle cell disease in Connecticut. Connecticut Medicine. 2007;71(1):9–12.
    1. Al-Hawsawi ZM, Ismail GA. Acute splenic sequestration crisis in children with sickle cell disease. Saudi Medical Journal. 2001;22(12):1076–1079.
    1. Wilimas JA, Flynn PM, Harris S, et al. A randomized study of outpatient treatment with ceftriaxone for selected febrile children with sickle cell disease. The New England Journal of Medicine. 1993;329(7):472–476.
    1. Rahimy MC, Gangbo A, Ahouignan G, Anagonou S, Boco V, Alihonou E. Outpatient management of fever in children with sickle cell disease (SCD) in an African setting. American Journal of Hematology. 1999;62(1):1–6.
    1. Ware RE, Zimmerman SA, Schultz WH. Hydroxyurea as an alternative to blood transfusions for the prevention of recurrent stroke in children with sickle cell disease. Blood. 1999;94(9):3022–3026.
    1. Rahimy MC, Gangbo A, Ahouignan G, et al. Effect of a comprehensive clinical care program on disease course in severely ill children with sickle cell anemia in a sub-Saharan African setting. Blood. 2003;102(3):834–838.
    1. Knight-Madden J, Serjeant GR. Invasive pneumococcal disease in homozygous sickle cell disease: Jamaican experience 1973–1997. Journal of Pediatrics. 2001;138(1):65–70.
    1. Berkley JA, Lowe BS, Mwangi I, et al. Bacteremia among children admitted to a rural hospital in Kenya. The New England Journal of Medicine. 2005;352(1):39–47.
    1. Roca A, Sigaúque B, Quintó L, et al. Invasive pneumococcal disease in children >5 years of age in rural Mozambique. Tropical Medicine and International Health. 2006;11(9):1422–1431.
    1. de Montalembert M, Brousse V, Zahar J-R. Pneumococcal prophylaxis for children with sickle cell disease in Africa. Archives of Disease in Childhood. 2008;93(8):715–716.
    1. Aluoch JR. Higher resistance to Plasmodium falciparum infection in patients with homozygous sickle cell disease in Western Kenya. Tropical Medicine and International Health. 1997;2(6):568–571.
    1. Okuonghae HO, Nwankwo MU, Offor E. Brief reports malarial parasitaemia in febrile children with sickle cell anaemia. Journal of Tropical Pediatrics. 1992;38(2):83–85.
    1. Kotila R, Okesola A, Makanjuola O. Asymptomatic malaria parasitaemia in sickle-cell disease patients: how effective is chemoprophylaxis? Journal of Vector Borne Diseases. 2007;44(1):52–55.
    1. Awotua-Efebo O, Alikor EA, Nkanginieme KE. Malaria parasite density and splenic status by ultrasonography in stable sickle-cell anaemia (HbSS) children. Nigerian Journal of Medicine. 2004;13(1):40–43.
    1. Makani J, Komba AN, Cox SE, et al. Malaria in patients with sickle cell anemia: burden, risk factors, and outcome at the outpatient clinic and during hospitalization. Blood. 2010;115(2):215–220.
    1. Oniyangi O, Omari AA. Malaria chemoprophylaxis in sickle cell disease. Cochrane Database of Systematic Reviews. 2006;(4)CD003489
    1. Wahl S, Quirolo KC. Current issues in blood transfusion for sickle cell disease. Current Opinion in Pediatrics. 2009;21(1):15–21.
    1. 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. The New England Journal of Medicine. 1998;339(1):5–11.
    1. Turner JM, Kaplan JB, Cohen HW, Billett HH. Exchange versus simple transfusion for acute chest syndrome in sickle cell anemia adults. Transfusion. 2009;49(5):863–868.
    1. Vichinsky EP, Haberkern CM, Neumayr L, et al. A comparison of conservative and aggressive transfusion regimens in the perioperative management of sickle cell disease. The New England Journal of Medicine. 1995;333(4):206–213.
    1. Stegenga KA, Ward-Smith P, Hinds PS, Routhieaux JA, Woods GM. Quality of life among children with sickle cell disease receiving chronic transfusion therapy. Journal of Pediatric Oncology Nursing. 2004;21(4):207–213.
    1. Prasad R, Hasan S, Castro O, Perlin E, Kim K. Long-term outcomes in patients with sickle cell disease and frequent vaso-occlusive crises. American Journal of the Medical Sciences. 2003;325(3):107–109.
    1. Telen MJ. Principles and problems of transfusion in sickle cell disease. Seminars in Hematology. 2001;38(4):315–323.
    1. Ohene-Frempong K. Indications for red cell transfusion in sickle cell disease. Seminars in Hematology. 2001;38(1, supplement 1):5–13.
    1. Dunlop RJ, Bennett KC. Pain management for sickle cell disease. Cochrane Database of Systematic Reviews. 2006;(2)CD003350
    1. Rees DC, Olujohungbe AD, Parker NE, Stephens AD, Telfer P, Wright J. Guidelines for the management of the acute painful crisis in sickle cell disease. British Journal of Haematology. 2003;120(5):744–752.
    1. Ballas SK. Pain management of sickle cell disease. Hematology/Oncology Clinics of North America. 2005;19(5):785–802.
    1. Charache S, Terrin ML, Moore RD, et al. Effect of hydroxyurea on the frequency of painful crises in Sickle cell anemia. The New England Journal of Medicine. 1995;332(20):1317–1322.
    1. Ware RE, Steinberg MH, Kinney TR. Hydroxyurea: an alternative to transfusion therapy for stroke in sickle cell anemia. American Journal of Hematology. 1995;50(2):140–143.
    1. National Institutes of Health. National Institutes of Health: Consensus Development Conference Statement: Hydroxyurea Treatment for Sickle Cell Disease. National Institutes of Health; 2008.
    1. Waugh WH, Daeschner CW, III, Files BA, McConnell ME, Strandjord SE. Oral citrulline as arginine precursor may be beneficial in sickle cell disease: early phase two results. Journal of the National Medical Association. 2001;93(10):363–371.
    1. Morris CR, Vichinsky EP, van Warmerdam J, et al. Hydroxyurea and arginine therapy: impact on nitric oxide production in sickle cell disease. Journal of Pediatric Hematology/Oncology. 2003;25(8):629–634.
    1. Oppert M, Jörres A, Barckow D, Eckardt K-U, Frei U, Kaisers U. Inhaled nitric oxide for ARDS due to sickle cell disease. Swiss Medical Weekly. 2004;134(11-12):165–167.
    1. Weiner DL, Brugnara C. Hydroxyurea and sickle cell disease: a chance for every patient. Journal of the American Medical Association. 2003;289(13):1692–1694.
    1. Gladwin MT, Shelhamer JH, Ognibene FP, et al. Nitric oxide donor properties of hydroxyurea in patients with sickle cell disease. British Journal of Haematology. 2002;116(2):436–444.
    1. Johnson FL, Look AT, Gockerman J. Bone-marrow transplantation in a patient with sickle-cell anemia. The New England Journal of Medicine. 1984;311(12):780–783.
    1. Walters MC, Storb R, Patience M, et al. Impact of bone marrow transplantation for symptomatic sickle cell disease: an interim report. Blood. 2000;95(6):1918–1924.
    1. Krishnamurti L, Abel S, Maiers M, Flesch S. Availability of unrelated donors for hematopoietic stem cell transplantation for hemoglobinopathies. Bone Marrow Transplantation. 2003;31(7):547–550.
    1. Woodard P, Lubin B, Walters MC. New approaches to hematopoietic cell transplantation for hematological diseases in children. Pediatric Clinics of North America. 2002;49(5):989–1007.
    1. Adamkiewicz TV, Mehta PS, Boyer MW, et al. Transplantation of unrelated placental blood cells in children with high-risk sickle cell disease. Bone Marrow Transplantation. 2004;34(5):405–411.
    1. Pawliuk R, Westerman KA, Fabry ME, et al. Correction of sickle cell disease in transgenic mouse models by gene therapy. Science. 2001;294(5550):2368–2371.
    1. World Health Organisation. Guidelines for the Control of Haemoglobin Disorders. Geneva, Switzerland: World Health Organisation; 1994.
    1. Alwan A, Modell B. Recommendations for introducing genetics services in developing countries. Nature Reviews Genetics. 2003;4(1):61–68.
    1. Wonkam A, Njamnshi AK, Angwafo FF., III Knowledge and attitudes concerning medical genetics amongst physicians and medical students in Cameroon (sub-Saharan Africa) Genetics in Medicine. 2006;8(6):331–338.
    1. Durosinmi MA, Odebiyi AI, Adediran IA, Akinola NO, Adegorioye DE, Okunade MA. Acceptability of prenatal diagnosis of sickle cell anaemia (SCA) by female patients and parents of SCA patients in Nigeria. Social Science and Medicine. 1995;41(3):433–436.
    1. Adeyemi AS, Adekanle DA. Knowledge and attitude of female health workers towards prenatal diagnosis of sickle cell disease. Nigerian Journal of Medicine. 2007;16(3):268–270.
    1. Akinyanju OO, Disu RF, Akinde JA, Adewole TA, Otaigbe AI, Emuveyan EE. Initiation of prenatal diagnosis of sickle-cell disorders in Africa. Prenatal Diagnosis. 1999;19(4):299–304.
    1. Xu J, Peng C, Sankaran VG, et al. Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing. Science. 2011;334(6058):993–996.
    1. World Health Organisation. Sickle Cell Disease: A Strategy for the WHO Africa Region. R.o.t.R. Director; 2010.
    1. Weatherall DJ. Genomics and global health: time for a reappraisal. Science. 2003;302(5645):597–599.
    1. Weatherall D, Hofman K, Rodgers G, Ruffin J, Hrynkow S. A case for developing North-South partnerships for research in sickle cell disease. Blood. 2005;105(3):921–923.

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