Defining the Phenotypes of Sickle Cell Disease

REFERENCES

• Ballas SK, Lieff S, Benjamin LJ, ; Investigators, Comprehensive Sickle Cell Centers. Definitions of the phenotypic manifestations of sickle cell disease. Am J Hematol. 2010;85(1):6–12.
   PubMed Web of Science ®Google Scholar
• DeBaun MR. Finally, a consensus statement on sickle cell disease manifestations: a critical step in improving the medical care and research agenda for individuals with sickle cell disease. Am J Hematol. 2010;85(1):1–2.
   PubMed Web of Science ®Google Scholar
• Bookchin RM, Nagel RL, Ranney HM. Structure and properties of Hemoglobin C-Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the β-polypeptide chain. J Biol Chem. 1967;242(2):248–255.
   PubMed Web of Science ®Google Scholar
• Williams GC. Pleiotropy, natural selection, and the evolution of senescence. Evolution. 1957;11(3):398–411.
   Google Scholar
• Powars D, Hiti A. Sickle cell anemia. β^S Gene cluster haplotypes as genetic markers for severe disease expression. Am J Dis Child. 1993;147(11):1197–1202.
   Google Scholar
• Robertson KD, Wolffe AP. DNA methylation in health and disease. Nat Rev Genet. 2000;1(1):11–19.
   PubMed Web of Science ®Google Scholar
• Ballas SK. Pain management of sickle cell disease. Hematol/Oncolo Clin Am. 2005;19(5):785–802.
   PubMed Web of Science ®Google Scholar
• Zimmerman SA, Davis JS, Schultz WH, Ware RE. Subclinical parvovirus B19 infection in children with sickle cell anemia. J Pediatr Hematol Oncol. 2003;25(5):387–389.
   PubMed Web of Science ®Google Scholar
• 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.
   PubMed Web of Science ®Google Scholar
• Powell RW, Levine GL, Yang YM, Mankad VN. Acute splenic sequestration crisis in sickle cell disease: early detection and treatment. J Pediatr Surg. 1992;27(2):215–219.
   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
• Johnson CS. Arterial blood pressure and hyperviscosity in sickle cell disease. Hematol Oncol Clin North Am. 2005;19(5):827–837.
   PubMed Web of Science ®Google Scholar
• Ballas SK. Iron overload is a determinant of morbidity and mortality in adult patients with sickle cell disease. Semin Hematol. 2001;38(Suppl. 1, 1):30–36.
   PubMed Web of Science ®Google Scholar
• Karam LB, Disco D, Jackson SM, Liver biopsy results in patients with sickle cell disease on chronic transfusions: poor correlation with ferritin levels. Pediatr Blood Cancer. 2008;50(1):62–65.
   PubMed Web of Science ®Google Scholar
• St Pierre TG, Clark PR, Chua-Anusorn W, Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood. 2005;105(2):855–861.
   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
• Dobson SR, Holden KR, Nietert PJ, Moyamoya syndrome in childhood sickle cell disease: a predictive factor for recurrent cerebrovascular events. Blood. 2002;99(9):3144–3150.
   PubMed Web of Science ®Google Scholar
• Albers GW, Caplan LR, Easton JD, ; TIA Working Group. Transient ischemic attack—proposal for a new definition. N Engl J Med. 2002;347(21):1713–1716.
   PubMed Web of Science ®Google Scholar
• DeBaun MR, Derdeyn CP, McKinstry RC III. Etiology of strokes in children with sickle cell anemia. Ment Retard Dev Disabil Res Rev. 2006;12(3):192–199.
   PubMedGoogle Scholar
• Vichinsky EP, Neumayr LD, Gold JI, ; Neuropsychological Dysfunction and Neuroimaging Adult Sickle Cell Anemia Study Group. Neuropsychological dysfunction and neuroimaging abnormalities in neurologically intact adults with sickle cell anemia. JAMA. 2010;303(18):1823–1831.
   PubMed Web of Science ®Google Scholar
• Ballas SK. Neurocognitive complications of sickle cell anemia in adults. JAMA. 2010;303(18):1862–1863.
   PubMed Web of Science ®Google Scholar
• Goldberg MF. Classification and pathogenesis of proliferative sickle retinopathy. Am J Ophthalmol. 1971(3);71:649–665.
   Google Scholar
• Brazier DJ, Gregor ZJ, Blach RK, Porter JB, Huehns ER. Retinal detachment in patients with proliferative sickle cell retinopathy. Trans Ophthalmol Soc UK. 1986;105(Pt. 1):100–105.
   PubMedGoogle Scholar
• Dana MR, Werner MS, Viana MA, Shapiro MJ. Spontaneous and traumatic vitreous hemorrhage. Ophthalmology. 1993;100(9):1377–1383.
   PubMed Web of Science ®Google Scholar
• Vichinsky EP, Neumayr LD, Earles AN, Causes and outcomes of the acute chest syndrome in sickle cell disease. National Acute Chest Syndrome Study Group. N Engl J Med. 2000;342(25):1855–1865.
   PubMed Web of Science ®Google Scholar
• Vichinsky EP, Styles LA, Colangelo LH, Wright EC, Castro O, Nickerson B. Acute chest syndrome in sickle cell disease: clinical presentation and course. Cooperative Study of Sickle Cell Disease. Blood. 1997;89(5):1787–1792.
   PubMed Web of Science ®Google Scholar
• Gladwin MT, Sachdev V, Jison ML, Pulmonary hypertension as a risk factor for death in patients with sickle cell disease. N Engl J Med. 2004;350(9):886–895.
   PubMed Web of Science ®Google Scholar
• Bellomo R, Ronco C, Kellum JA, Mehta RL, Palevsky P; Acute Dialysis Quality Initiative Work Group. Acute renal failure—definition, outcome measures, animal models, fluid therapy and information technology needs: the Second International Consensus Conference of the Acute Dialysis Quality Initiative (ADQI) Group. Crit Care. 2004;8(4):R204–R212.
   PubMed Web of Science ®Google Scholar
• Lameire N, Van Biesen W, Vanholder R. Acute renal failure. Lancet 2005;365(9457):417–430.
   PubMed Web of Science ®Google Scholar
• Johnson C. Renal complications of the sickle cell diseases. Hematology Am Soc Hematol Educ Program. 1999:44–50.
   Google Scholar
• Rogers ZR. Priapism in sickle cell disease. Hematol Oncol Clin North Am. 2005;19(5):917–928.
   PubMed Web of Science ®Google Scholar
• West MS, Wethers D, Smith J, Steinberg M. Laboratory profile of sickle cell disease: a cross-sectional analysis. The Cooperative Study of Sickle Cell Disease. J Clin Epidemiol. 1992;45(8):893–909.
   PubMed Web of Science ®Google Scholar
• Banerjee S, Owen C, Chopra S. Sickle cell hepatopathy. Hepatology. 2001;33(5):1021–1028.
   PubMed Web of Science ®Google Scholar
• Hatton CS, Bunch C, Weatherall DJ. Hepatic sequestration in sickle cell anaemia. Br Med J (Clin Res Ed). 1985;290(6470):744–745.
   PubMedGoogle Scholar
• Shao SH, Orringer EP. Sickle cell intrahepatic cholestasis: approach to a difficult problem. Am J Gastroenterol. 1995:90(11):2048–2050.
   PubMed Web of Science ®Google Scholar
• Almeida A, Roberts I. Bone involvement in sickle cell disease. Br J Haematol. 2005;129(4):482–490.
   PubMed Web of Science ®Google Scholar
• Powars DR. Sickle cell anemia and major organ failure. Hemoglobin. 1990;14(6):573–598.
   PubMed Web of Science ®Google Scholar
• Halabi-Tawil M, Lionnet F, Girot R, Bachmeyer C, Lévy PP, Aractingi S. Sickle cell leg ulcers: a frequently disabling complication and marker of severity. Br J Dermatol. 2008;158(2):339–344.
   PubMed Web of Science ®Google Scholar
• Koshy M, Entsuah R, Koranda A, Leg ulcers in patients with sickle cell disease. Blood. 1989;74(4):1403–1408.
   PubMed Web of Science ®Google Scholar