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A rapid and inexpensive polymerase chain reaction (PCR) based strategy is described which detects the three common, severe alpha thalassaemia determinants observed in southeast Asia (--SEA) and the Mediterranean (--MED and -(alpha)20.5). Oligonucleotide primers have been chosen which allow specific identification of both normal (alpha alpha) and abnormal (--) chromosomes using identical conditions in either the same or parallel PCR reactions. This strategy should be useful in the development of screening programmes to identify carriers of alpha thalassaemia (--/alpha alpha) and prenatal diagnosis of the Hb Bart's hydrops fetalis syndrome (--/--) for those populations in which this represents a major cause of perinatal death.

Original publication

DOI

10.1111/j.1365-2141.1992.tb08180.x

Type

Journal article

Journal

British journal of haematology

Publication Date

05/1992

Volume

81

Pages

104 - 108

Addresses

Department of Anatomy, Monash University, Clayton, Victoria, Australia.

Keywords

Humans, Fetal Diseases, Hydrops Fetalis, Thalassemia, DNA, Oligonucleotides, Prenatal Diagnosis, Mass Screening, Polymerase Chain Reaction, Base Sequence, Molecular Sequence Data