Prospects for Research in Hematologic Disorders: Sickle Cell Disease and Thalassemia

• Published in: JAMA : the journal of the American Medical Association Vol. 285; no. 5; pp. 640 - 642
• Main Authors: Mentzer, William C, Kan, Yuet Wai
• Format: Journal Article
• Language: English
• Published: Chicago, IL American Medical Association 07.02.2001
• Subjects: Anemia, Sickle Cell; Animals; Biological and medical sciences; Forecasting; Hematologic Diseases; Hematology; Hematology - trends; Humans; Investigative techniques, diagnostic techniques (general aspects); Medical sciences; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Research - trends; Thalassemia; Human; Prevention; Hemoglobinopathy; Hemolytic anemia; Sickle cell anemia; Prevalence; Treatment; Scientific research; Strategy; Thalassemia; Hemopathy; Genetic disease
• ISSN: 0098-7484; 1538-3598
• DOI: 10.1001/jama.285.5.640

Sickle cell anemia and thalassemia constitute the most common genetic diseases in the world. Affected patients carry a heavy burden of morbidity and early mortality. With improved understanding of the pathophysiology and molecular basis of these diseases, treatment is evolving from management of symptoms to more effective strategies that aim to modify diseased red blood cells or replace them with normal cells. Available treatment options include red blood cell transfusions, pharmacologic interventions to increase fetal hemoglobin levels, and stem cell transplantation. Improvements in these approaches or the development of means to replace defective genes with normal ones using techniques of gene transfer offer hope for the future.