Limitations of Hb F as a Phenotypic Modifier in Sickle Cell Disease: Study of Kuwaiti Arab Patients

REFERENCES

• Steinberg MH. Predicting clinical severity in sickle cell anaemia. Br J Haematol. 2005;129(4):465–481.
   PubMed Web of Science ®Google Scholar
• Gladwin MT, Vichinsky E. Pulmonary complications of sickle cell disease. N Engl J Med. 2008;359(21):2254–2265.
   PubMed Web of Science ®Google Scholar
• Kato GJ, Gladwin MT, Steinberg MH. Deconstructing sickle cell disease: reappraisal of the role of hemolysis in the development of clinical subphenotypes. Blood Rev. 2007;21(1):37–47.
   PubMed Web of Science ®Google Scholar
• Rother R, Bell L, Hillmen P, Gladwin MT. The clinical sequelae of intravascular hemolysis and extracellular plasma hemoglobin: a novel mechanism of human disease. JAMA. 2005;293(13):1653–1662.
   PubMed Web of Science ®Google Scholar
• Kato GJ, McGowan V, Machado RF, 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.
   PubMed Web of Science ®Google Scholar
• Kato GJ, Martyr S, Blackwelder WC, Levels of soluble endothelium-derived adhesion molecules in patients with sickle cell disease are associated with pulmonary hypertension, organ dysfunction, and mortality. Br J Haematol. 2005;130(6):943–953.
   PubMed Web of Science ®Google Scholar
• Gladwin MT, Rodgers GP. Pathogenesis and treatment of acute chest syndrome of sickle-cell anaemia. Lancet. 2000;355(9214):1476–1478.
   PubMed Web of Science ®Google Scholar
• Sebastiani P, Solovieff N, Hartley SW, Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study. Am J Hematol. 2010;85(1):29–35.
   PubMed Web of Science ®Google Scholar
• Adekile AD, Huisman THJ. Hb F in sickle cell anemia. Experientia. 1993;49(1):16–27.
   PubMedGoogle Scholar
• Nagel RL. Severity, pathobiology, epistatic effects, and genetic markers in sickle cell anemia. Semin Hematol. 1991;28(3):180–201.
   PubMed Web of Science ®Google Scholar
• Chang YP, Maier-Redelsperger M, Smith KD, The relative importance of the X-linked FCP locus and β-globin haplotypes in determining Haemoglobin F levels: a study of SS patients homozygous for βS haplotypes. Br J Haematol. 1997;96(4):806–814.
   PubMed Web of Science ®Google Scholar
• Thein SL, Menzel S. Discovering the genetics underlying foetal haemoglobin production in adults. Br J Haematol. 2009;145(4):455–467.
   PubMed Web of Science ®Google Scholar
• Thein SL. Genetic modifiers of the β-haemoglobinopathies. Br J Haematol. 2008;141(3):357–366.
   PubMed Web of Science ®Google Scholar
• Green NS, Barral S. Genetic modifiers of HbF and response to hydroxyurea in sickle cell disease. Pediatr Blood Cancer. 2011;56(2):177–181.
   PubMed Web of Science ®Google Scholar
• Higgs DR, Aldridge BE, Lamb J, The interaction of α-thalassemia and homozygous sickle-cell disease. N Engl J Med. 1982;306(24):1441–1446.
   PubMed Web of Science ®Google Scholar
• Mears JG, Lachman HM, Labie D, Nagel RL. α-Thalassemia is related to prolonged survival in sickle cell anemia. Blood. 1983;62(2):286–290.
   PubMed Web of Science ®Google Scholar
• Steinberg MH, Rosenstock W, Coleman MB, Effects of thalassemia and microcytosis on the hematologic and vasoocclusive severity of sickle cell anemia. Blood. 1984;63(6):1353–1360.
   PubMed Web of Science ®Google Scholar
• Adekile AD, Tuli M, Haider MZ, Influence of α-thalassemia trait on spleen function in sickle cell anemia patients with high Hb F. Am J Hematol. 1996;53(1):1–5.
   PubMed Web of Science ®Google Scholar
• Steinberg MH, Rodgers GP. Pharmacologic modulation of fetal hemoglobin. Medicine (Baltimore). 2001;80(5):328–344.
   PubMed Web of Science ®Google Scholar
• Bookchin RM, Nagel RL, Balazs T. Role of hybrid tetramer formation in gelation of Haemoglobin S. Nature. 1975;256(5519):667–668.
   PubMed Web of Science ®Google Scholar
• Powars DR. Sickle cell anemia: βS-gene-cluster haplotypes as prognostic indicators of vital organ failure. Semin Hematol. 1991;28(3):202–208.
   PubMed Web of Science ®Google Scholar
• Antonarakis SE, Boehm CD, Serjeant GR, Origin of the βS-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. Proc Natl Acad Sci USA. 1984;81(3):853–856.
   PubMed Web of Science ®Google Scholar
• Powars DR. βS-Gene-cluster haplotypes in sickle cell anemia. Clinical and hematologic features. Hematol Oncol Clin North Am. 1991;5(3):475–493.
   PubMed Web of Science ®Google Scholar
• Population of Kuwait (http://www.e.gov.kw/sites/kgoenglish/portal/Pages/Visitors/AboutKuwait/KuwaitAtaGlane_Population.aspx).
   Google Scholar
• Abu-Hakima A. The modern history of Kuwait. London: Luzac & Co Ltd, 1983.
   Google Scholar
• Adekile AD, Gu L-H, Baysal E, Molecular characterization of α-thalassemia determinants, β-thalassemia alleles, and βS haplotypes among Kuwaiti Arabs. Acta Haematol. 1994;92(4):176–181.
   PubMed Web of Science ®Google Scholar
• Adekile AD, Haider MZ. Morbidity, βS haplotype and α-globin gene patterns among sickle cell anemia patients in Kuwait. Acta Haematol. 1996;96(3):150–154.
   PubMed Web of Science ®Google Scholar
• Adekile A, Al-Kandari M, Haider M, Hemoglobin F concentration as a function of age in Kuwaiti sickle cell disease patients. Med Princ Pract. 2007;16(4):286–290.
   PubMed Web of Science ®Google Scholar
• Akar NA, Adekile A. Ten-year review of hospital admissions among children with sickle cell disease in Kuwait. Med Princ Pract. 2008;17(5):404–408.
   PubMed Web of Science ®Google Scholar
• Owunwanne A, Halkar R, Al-Rasheed A, Abubacker KC, Abdel-Dayem H. Radionuclide imaging of the spleen with heat denatured technetium-99m RBC when the splenic reticuloendothelial system seems impaired. J Nucl Med. 1988;29(3):320–323.
   PubMed Web of Science ®Google Scholar
• Adekile AD, Owunwanne A, Al-Za’abi K, Temporal sequence of splenic dysfunction in sickle cell disease. Am J Hematol. 2002;69(1):23–27.
   PubMed Web of Science ®Google Scholar
• Pearson HA, Gallagher D, Chilcote R, Developmental pattern of splenic dysfunction in sickle cell disorders. Pediatrics. 1985;76(3):392–397.
   PubMed Web of Science ®Google Scholar
• Adekile AD, Gupta R, Yacoub F, Avascular necrosis of the hip in children with sickle cell disease and high Hb F: magnetic resonance imaging findings and influence of α-thalassemia trait. Acta Haematol. 2001;105(1):27–31.
   PubMed Web of Science ®Google Scholar
• Gupta R, Adekile AD. MRI follow-up and natural history of avascular necrosis of the femoral head in Kuwaiti children with sickle cell disease. J Pediatr Hematol Oncol. 2004;26(6):351–353.
   PubMed Web of Science ®Google Scholar
• Marouf R, Gupta R, Haider MZ, Al-Wazzan H, Adekile AD. Avascular necrosis of the femoral head in adult Kuwaiti sickle cell disease patients. Acta Haematol. 2003;110(1):11–15.
   PubMed Web of Science ®Google Scholar
• Ohene-Frempong K, Weiner SJ, Sleeper LA, Cerebrovascular accidents in sickle cell disease: rates and risk factors. Blood. 1998;91(1):288–294.
   PubMed Web of Science ®Google Scholar
• Adekile AD, Yacoub F, Gupta R, Silent brain infarcts are rare in Kuwaiti children with sickle cell disease and high Hb F. Am J Hematol. 2002;70(3):228–231.
   PubMed Web of Science ®Google Scholar
• Marouf R, Gupta R, Haider MZ, Adekile AD. Silent brain infarcts in adult Kuwaiti sickle cell disease patients. Am J Hematol. 2003;73(4):240–243.
   PubMed Web of Science ®Google Scholar
• Moser FG, Miller ST, Bello JA, The spectrum of brain MR abnormalities in sickle-cell disease: a report from the Cooperative Study of Sickle Cell Disease. AJNR Am J Neuroradiol. 1996;17(5):965–972.
   PubMed Web of Science ®Google Scholar
• Al-Kandari FA, Owunwanne A, Syed GM, Regional cerebral blood flow in patients with sickle cell disease: study with single photon emission computed tomography. Ann Nucl Med. 2007;21(8):439–445.
   PubMed Web of Science ®Google Scholar
• Siddiqui AK. Pulmonary manifestations of sickle cell disease. Postgrad Med J. 2003;79(933):384–390.
   PubMed Web of Science ®Google Scholar
• Powars D, Weidman J, Odom-Maryon T, Niland J, Johnson C. Sickle cell chronic lung disease: prior morbidity and the risk of pulmonary failure. Medicine (Baltimore). 1988;67(1):66–76.
   PubMed Web of Science ®Google Scholar
• Weil J, Castro O, Malik A, Pathogenesis of lung disease in sickle hemoglobinopathies. Am Rev Respir Dis. 1993;148(1):249–256.
   PubMedGoogle Scholar
• Santoli F, Zerah F, Vasile N, Pulmonary function in sickle cell disease with or without acute chest syndrome. Eur Resp J. 1998;12(5):1124–1129.
   PubMed Web of Science ®Google Scholar
• Wall MA, Platt OS, Strieder DJ. Lung function in children with sickle cell anemia. Am Rev Respir Dis. 1979;120(1):210–214.
   PubMedGoogle Scholar
• Bowen EF, Crowston JG, De Ceular K, Serjeant GR. Peak expiratory flow rate and the acute chest syndrome in homozygous sickle cell disease Arch Dis Child. 1991;66(3):330–332.
   Google Scholar
• Koumbourlis AC, Lee DJ, Lee A. Longitudinal changes in lung function and somatic growth in children with sickle cell disease. Pediatr Pulmonol. 2007;42(6):483–488.
   PubMed Web of Science ®Google Scholar
• Koumbourlis AC, Hurlet-Jensen A, Bye MR. Lung function in infants with sickle cell disease. Pediatr Pulmonol. 1997;24(4):277–281.
   PubMed Web of Science ®Google Scholar
• Hijazi Z, Onadeko BO, Khadadah M, Pulmonary function studies in Kuwaiti children with sickle cell disease and elevated Hb F. Int J Clin Pract. 2005;59(2):163–167.
   PubMed Web of Science ®Google Scholar
• Rodriguez GI, Kuhn JG, Weiss GR, A bioavailability and pharmacokinetic study of oral and intravenous hydroxyurea. Blood. 1988;91(5):1533–1541.
   Google Scholar
• Letvin NL, Linch DC, Beardsley P, McIntyre KW, Nathan DG. Augmentation of fetal hemoglobin in anemic monkeys by hydroxyurea. N Engl J Med. 1984;310(14):869–874.
   PubMed Web of Science ®Google Scholar
• Charache S, Terrin ML, Moore RD, Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. Investigators of the Multicenter Study of Hydroxyurea in Sickle Cell Anemia. N Engl J Med. 1995;332(20):1317–1322.
   PubMed Web of Science ®Google Scholar
• Charache S, Barton FB, Moore RD, Hydroxyurea and sickle cell anemia. Clinical utility of a myelosuppressive “switching” agent. The Multicenter Study of Hydroxyurea in Sickle Cell Anemia. Medicine (Baltimore). 1996;75(6):300–326.
   PubMed Web of Science ®Google Scholar
• Steinberg MH, Barton F, Castro O, Effect of hydroxyurea on mortality and morbidity in adult sickle cell anemia: risks and benefits up to 9 years of treatment. JAMA. 2003;289(13):1645–1651.
   PubMed Web of Science ®Google Scholar
• Thompson BW, Miller ST, Rogers ZR, The pediatric hydroxyurea phase III clinical trial (BABY HUG): challenges of study design. Pediatr Blood Cancer. 2010;54(2):250–255.
   PubMed Web of Science ®Google Scholar
• Hoppe C, Vichinsky E, Quirolo K, Use of hydroxyurea in children ages 2 to 5 years with sickle cell disease. J Pediatr Hematol Oncol. 2000;22(4):330–334.
   PubMed Web of Science ®Google Scholar
• Ware RE. How I use hydroxyurea to treat young patients with sickle cell anemia. Blood. 2010;115(26):5300–5311.
   PubMed Web of Science ®Google Scholar
• Al-Jam’a AH, Al-Dabbous IA. Hydroxyurea in sickle cell disease patients from Eastern Saudi Arabia. Saudi Med J. 2002;23(3):277–281.
   PubMed Web of Science ®Google Scholar
• Huisman THJ, Carver MFH, Efremov GD. A Syllabus of Human Hemoglobin Variants (Second Edition). Augusta: The Sickle Cell Anemia Foundation, 1998.
   Google Scholar
• Kelleher JF, Park JOK, Kim HC, Schroeder WA. Life-threatening complications in a child with Hemoglobin SD-Los Angeles disease. Hemoglobin. 1984;8(3):203–213.
   PubMed Web of Science ®Google Scholar
• Mukherjee MB, Surve RR, Gangakhedkar RR, Mohanty D, Colah RB. Hemoglobin sickle D Punjab – case report. Indian J Hum Genet. 2005;11(3):154–156.
   Google Scholar
• Adekile A, Mullah-Ali A, Akar NA. Does elevated Hemoglobin F modulate the phenotype in Hb SD-Los Angeles? Acta Haematol. 2010;123(3):135–139.
   PubMed Web of Science ®Google Scholar
• Adachi K, Kim J, Ballas S, Surrey S, Asakura T. Facilitation of Hb S polymerization by the substitution of Glu for Gln at β121. J Biol Chem. 1988;263(12):5607–5610.
   PubMed Web of Science ®Google Scholar
• Charache S, Conley CL. Rate of sickling of red cells during deoxygenation of blood from persons with various in sickling disorders. Blood. 1964;24(1):25–48.
   PubMed Web of Science ®Google Scholar
• Milner PF, Miller C, Grey R, Seakins M, DeJong WW, Went LN. Hemoglobin O Arab in four Negro families and its interaction with Hemoglobin S and Hemoglobin C. N Engl J Med. 1970;283(26):1413–1425.
   Web of Science ®Google Scholar