A PCR-based strategy to detect the common severe determinants of alpha thalassaemia

British Journal of Haematology
D K BowdenD R Higgs

Abstract

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.

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Related Concepts

DNA Sequence
DNA, Double-Stranded
Embryopathies
Mass Screening
Oligonucleotides
Antenatal Screening Procedures
Thalassemia
Immune Hydrops Fetalis
Nested Polymerase Chain Reaction

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