Sickle Cell Disease and Hemoglobinopathies
Pathophysiology
Prediction of adverse outcomes in children with sickle cell disease.
Miller ST, Sleeper LA, Pegelow CH, et al.
N Engl J Med. 2000;342:83-89.
Description: This article presents results of a pediatric study evaluating the clinical course of patients with sickle cell disease from infancy through childhood to determine factors predictive of future disease severity.
PubMed citation number: 10631276
Survival of children with sickle cell disease.
Quinn CT, Rogers ZR, Buchanan GR.
Blood. 2004;103:4023-4027.
Description: Prospective analysis of patients identified in the newborn period to have a form of sickle cell anemia (Hgb SS, Hgb SC, Hgb S b thalassemia) to determine overall survival, sickle cell disease–related survival, and stroke-free survival.
PubMed citation number: 14764527
Complications
Stroke and conversion to high risk in children screened with transcranial Doppler ultrasound during the STOP study.
Adams RJ, Brambilla DJ, Granger S, et al.
Blood. 2004;103:3689-3694.
Description: Data from patients with sickle cell anemia enrolled on a large prospective, randomized control trial, is evaluated to determine the stroke risk relative to TCD findings and rate of TCD conversion from low to high risk during the four year study period.
PubMed citation number: 14751925
Psychopathology in sickle cell disease.
Alao AO, Dewan MJ, Jindal S, Effron M.
West Afr J Med. 2003;22:334-337.
Description: A review of the literature describing the psychological issues of patients with sickle cell disease in an effort to improve identification and treatment of concomitant psychopathology.
PubMed citation number: 15008300
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.
Miller ST, Macklin EA, Pegelow CH, et al.
J Pediatr. 2001;139:385-390.
Description: A cooperative study to determine the risk of subsequent overt stroke in patients with sickle cell disease found initially to have silent infracts as seen by MRI scans.
PubMed citation number: 11562618
Pulmonary manifestations of sickle cell disease.
Siddiqui AK, Ahmed S.
Postgrad Med J. 2003;79:384-390.
Description: Review of the pulmonary complications related to sickle cell disease with a focus on acute chest syndrome and chronic lung disease, describing etiology, pathophysiology, clinical features and management. PubMed citation number: 12897216
Treatment
Stroke prevention trial in sickle cell anemia.
Adams RJ, McKie VC, Brambilla D, et al.
Control Clin Trials. 1998;19:110-129.
Description: This article presents results from the Stroke Prevention Trial in Sickle Cell Anemia (STOP), a randomized controlled trial evaluating the efficacy of repeated blood transfusions in reducing primary strokes in patients with sickle cell disease.
PubMed citation number: 9492971
Managing sickle cell disease.
Claster S, Vichinsky EP.
BMJ. 2003;327:1151-1155.
Description: Review of the management of patients with sickle cell disease based on age group (pediatric vs adult) as well as by specific affected organ system.
PubMed citation number: 14615343
Impact of chronic transfusion on incidence of pain and acute chest syndrome during the Stroke Prevention Trial (STOP) in sickle-cell anemia.
Miller ST, Wright E, Abboud M, et al.
J Pediatr. 2001;139:785-789.
Description: Evaluation of data from the STOP clinical trial to determine the efficacy of chronic red blood cell transfusions in preventing pain crisis and episodes of acute chest syndrome.
PubMed citation number: 11743502
Gene therapy for hemoglobinopathies: are we there yet?
Puthenveetil G, Malik P.
Curr Hematol Rep. 2004;3:298-305.
Description: Review of gene therapy in the treatment of hemoglobinopathies such as sickle cell anemia and thalassemia, including a discussion of previous problems with vector and viral instability or variable expression and description of novel techniques, which may allow permanent correction of these genetic disorders.
PubMed citation number: 15217560
Therapies to increase fetal hemoglobin in sickle cell disease.
Steinberg MH.
Curr Hematol Rep. 2003;2:95-101.
Description: Brief discussion of the pathophysiology of hemoglobin F as related to sickle cell disease followed by a description of the mechanism of action, therapeutic benefit and side effects of current therapies to increase hemoglobin F in patients with sickle cell disease.
PubMed citation number: 12901139
Effect of hydroxyurea on mortality and morbidity in adult sickle cell anemia: risks and benefits up to 9 years of treatment.
Steinberg MH, Barton F, Castro O, et al.
JAMA. 2003;289:1645-1651.
Description: Data from a long-term observational, multi-institutional study of patients with sickle cell disease previously enrolled in a randomized, double-blind, placebo-controlled trial of hydroxyurea indicated, after 9-year follow-up, that those adult patients taking hydroxyurea for frequent painful vaso-occlusive crisis had reduced mortality.
PubMed citation number: 12672732
Pathophysiological-based approaches to treatment of sickle cell disease.
Steinberg MH, Brugnara C.
Annu Rev Med. 2003;54:89-112.
Description: Review of the pathophysiology of sickle cell vaso-occlusive disease and presentation of the diverse current therapeutic options and future directions for treatment.
PubMed citation number: 12359829
Review
Sickle cell disease.
Buchanan GR, DeBaun MR, Quinn CT, Steinberg MH.
Hematology (Am Soc Hematol Educ Program). 2004:35-47.
Description: Comprehensive review of sickle cell disease, including discussions of the neurologic complications, risk, and prognostic factors of disease severity and treatment options for patients.
PubMed citation number: 15561675
Fixler J, Styles L.
Pediatr Clin North Am. 2002;49:1193-1210, vi.
Description: Comprehensive description of sickle cell disease, including diagnosis, pathophysiology, primary disease treatment, evaluation, and treatment of complications and maintenance care.
PubMed citation number: 12580362