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 . . .

Keywords

MedicineThalassemiaPrenatal diagnosisFetusFetal hemoglobinSickle cell anemiaCell-free fetal DNAHemoglobinopathyObstetricsMutationPediatricsPregnancyHemolytic anemiaGeneticsPathologyImmunologyInternal medicineGeneBiologyDisease

MeSH Terms

AnemiaSickle CellBase SequenceBeta-GlobulinsDNADNA Restriction EnzymesDeoxyribonucleasesType II Site-SpecificFemaleGenetic LinkageHumansMaleNucleic Acid HybridizationPolymorphismGeneticPregnancyPrenatal Diagnosis

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Publication Info

Year
1982
Type
article
Volume
307
Issue
1
Pages
32-36
Citations
175
Access
Closed

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Cite This

Stuart H. Orkin, Peter Little, Haig H. Kazazian et al. (1982). Improved Detection of the Sickle Mutation by DNA Analysis. New England Journal of Medicine , 307 (1) , 32-36. https://doi.org/10.1056/nejm198207013070106

Identifiers

DOI
10.1056/nejm198207013070106
PMID
6176867

Data Quality

Data completeness: 81%