Sickle Cell Anemia
- 1 November 1993
- journal article
- research article
- Published by American Medical Association (AMA) in American Journal of Diseases of Children
- Vol. 147 (11) , 1197-1202
- https://doi.org/10.1001/archpedi.1993.02160350071011
Abstract
• Identification of the βsgene cluster haplotype and α-gene status provides a useful tool for the detection of high-risk patients with sickle cell anemia. Analysis of the relationship of the long-term clinical course to the above parameters has revealed that those with the haplotype designated Senegal have decreased severity, those with the Benin haplotype have intermediate severity, and those with the Central African Republic (CAR) haplotype have the most severe clinical expression. Further modulation of the clinical course occurs with the coinheritance of α-thalassemia-2. In both Africa and the United States, the CAR βshaplotype increased the risk (relative risk, 2.25; 95% confidence interval, 1.41 to 3.87) of developing a complication and death at an early age. Detection of the CAR haplotype identifies the child with sickle cell anemia at risk for a rapid rate of progression of sickle-induced microvasculopathy, ultimately leading to irreversible organ damage during the first three decades of life. In patients with the CAR haplotype, potential curative therapy, such as bone marrow transplantation or gene insertion, should be seriously considered during childhood, before organ failure is clinically evident. (AJDC. 1993;147:1197-1202)Keywords
This publication has 4 references indexed in Scilit:
- Cystic fibrosis: molecular biology and therapeutic implicationsScience, 1992
- Sickle Cell Anaemia, Genetic Variations, and the Slave Trade to the United StatesThe Journal of African History, 1990
- Delay Time of Hemoglobin S Polymerization Prevents Most Cells from Sickling in VivoScience, 1987
- DNA polymorphism and molecular pathology of the human globin gene clustersHuman Genetics, 1985