Improved Detection of the Sickle Mutation by DNA Analysis: Application to Prenatal Diagnosis

Stuart H. Orkin, Peter F.R. Little, Haig H. Kazazian, Corinne D. Boehm, Stuart H. Orkin, Peter F.R. Little, Haig H. Kazazian, Corinne D. Boehm, Stuart H. Orkin, Peter F.R. Little, Haig H. Kazazian, Corinne D. Boehm

Research output: Contribution to journalArticlepeer-review

Abstract

DETECTION of sickle hemoglobin in the human fetus was first accomplished nearly 10 years ago.1,2 This marked the beginning of a technology for prenatal diagnosis of the hemoglobinopathies. When methods for acquisition of fetal blood and for analysis of globin-chain synthesis were developed, the prenatal diagnosis of sickle-cell anemia and the thalassemia syndromes became a practical reality.3,4 Nearly 2000 fetuses at risk for these disorders have now been studied worldwide.5 However, a fetal loss of about 5 per cent due to these invasive procedures has provided the impetus for the development of diagnostic approaches that use fetal DNA rather than.

Original languageEnglish (US)
Pages (from-to)32-36
Number of pages5
JournalNew England Journal of Medicine
Volume307
Issue number1
DOIs
StatePublished - Jul 1 1982

ASJC Scopus subject areas

  • Medicine(all)

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