A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.

doi:10.1111/j.1365-2141.1993.tb03346.x

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Article

A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.

British journal of haematology - 1 Nov 1993

Hall G W, Thein S L, Newland A C, Chisholm M, Traeger-Synodinos J, Kanavakis E, Kattamis C, Higgs D R

Abstract excerpt

We have identified three individuals of Greek or Greek Cypriot origin with an atypical form of HbH disease characterized by a severe hypochromic microcytic anaemia associated with relatively small amounts of HbH in the peripheral blood. Molecular analysis has shown that each is a compound heteroz...

Topics

Adult
Anemia, Hypochromic
Base Sequence
Child, Preschool
Codon
DNA
Female
Globins
Humans
Infant
Male
Molecular Sequence Data
Mutation
Polymerase Chain Reaction
alpha-Thalassemia

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