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Next Article 
Molecular basis and prenatal diagnosis of beta-thalassemia
HH Kazazian and CD Boehm
Department of Pediatrics, Johns Hopkins University School of Medicine,
Baltimore, MD 21205.
The molecular characterization of mutations producing beta-thalassemia in
world populations is nearing completion. We expect that new rare alleles in
thoroughly studied groups and other alleles in less studied groups, eg,
inhabitants of New Guinea, Latin America, and certain Pacific Islands, will
be found. Knowledge of the molecular basis of the disease and new
technology that allows rapid detection of single nucleotide changes in
genomic DNA have led to the reality of prenatal diagnosis by direct
mutation detection even in the heterogeneous US population. Programs aimed
at prevention of beta-thalassemia should be facilitated by these
developments.
Volume 72,
Issue 4,
pp. 1107-1116,
10/01/1988
Copyright © 1988 by The American Society of Hematology
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