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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 heterozygote for a previously described mutation affecting the poly A addition signal (AATAAA-->AATAAG) and a previously...

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Identifiers

PMID: 8136277
DOI: 10.1111/j.1365-2141.1993.tb03346.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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A base substitution (T-->C) in codon 29 of the alpha 2-globin gene causes alpha thalassaemia.PMID 8136277Read ↗

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alpha-Thalassaemia in the population of Cyprus.Semantic proximity Read ↗

Hb Antalya [codons 3-5 (Leu-Thr-Pro-->Ser-Asp-Ser)]: a new unstable variant leading to chronic microcytic anemia and high Hb A2.Semantic proximity Read ↗

Compound heterozygosity for two alpha-globin gene defects, Hb Taybe (alpha 1; 38 or 39 minus Thr) and a poly A mutation (alpha 2; AATAAA-->AATAAG), results in a severe hemolytic anemia.Semantic proximity Read ↗

Codon 24 (TAT>TAG) and codon 32 (ATG>AGG) (Hb Rotterdam): two novel alpha2 gene mutations associated with mild alpha-thalassemia found in the same family after newborn screening.Semantic proximity Read ↗

Hb Agrinio [alpha29(B10)Le-->uPro (alpha2)] in combination with --(MED I). Results in a severe form of Hb H disease.Semantic proximity Read ↗

Analysis of delta-globin gene mutations in Greek cypriots.Semantic proximity Read ↗

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Haemoglobin H hydrops fetalis syndrome associated with homozygosity for the alpha2-globin gene polyadenylation signal mutation AATAAA-->AATA- -.Semantic proximity Read ↗

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