Sickle cell anemia diagnosis

Saiki RK, Schare S, Faloona F Muelis KB, Horn GT, Erlich HA, Arnheim N (1985) Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia Science 1985 Dec 20, 23o(4732) i35o-i354-... 

Xu, K., et al., "First Unaffected Pregnancy Using Preimplantation Genetic Diagnosis for Sickle Cell Anemia," JAMA, 281, 1701-1705 (1999). 

Saiki, R. K., Chang, C., Levenson, C. H., Warren, T. C., Boehm, C. D. etal.. Diagnosis of sickle cell anemia and (3-thalassemia with enzymatically amplified DNA and non radioactive allele-specific oligonucleotide probes. N. Engl. J. Med. 319, 537-541 (1988). 

B. Diagnosis of sickle-cell anemia using RFLP O... 

As discussed above, in the case of phenylketonuria, early intervention can make the difference between mental retardation and a near normal life course for a newborn. Congenital adrenal hyperplasia and maple syrup urine disease are two examples of neonatal hereditary disorders where early diagnosis and medical intervention can make the difference between life and death for the newborn. In addition, in a number of genetic diseases, early diagnosis and treatment can help ameliorate symptoms these include fragile X syndrome, homocystinuria, sickle cell anemia, cystic fibrosis, and many /1-thalassemias. 

Among its many other applications, DNA fingerprinting is widely used for the diagnosis of genetic disorders. Cystic fibrosis, hemophilia, Huntington s disease, Tay-Sachs disease, and sickle-cell anemia are among the many diseases that can be detected, enabling early treatment of an affected child. In addition, the U.S. Department of Defense now requires blood and saliva samples from all military personnel. The samples are stored, and DNA is extracted should the need for identification of a casualty arise. 

Wu DY, Ugozzoli L, Pal BK, Wallace RB (1989) Allele-specific enz3nnatic amplification of B-globin genomic DNA for diagnosis of sickle cell anemia. Proc Natl Acad Sci USA 86 2757-2760... 

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