1. Home page
  2. Search

A base substitution (T→C) in codon 29 of the α2‐globin gene causes α thalassaemia

This item is provided by the institution :
/aggregator-openarchives/portal/institutions/uoa   

Repository :
Pergamos Digital Library   

see the original item page
in the repository's web site and access all digital files if the item*



A base substitution (T→C) in codon 29 of the α2‐globin gene causes α thalassaemia
Hall, G.W. Thein, S.L. Newland, A.C. Chisholm, M. Traeger‐Synodinos, J. Kanavakis, E. Kattamis, C. Higgs, D.R.
scientific_publication_article
Επιστημονική δημοσίευση - Άρθρο Περιοδικού (EL)
Scientific publication - Journal Article (EN)
1993
Summary. 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→ÁTAAG) and a previously undescribed mutation involving a T→C transition in codon 29 of the α2 gene causing a leucine→pro‐line substitution. Although this mutation would be expected to produce an unstable haemoglobin and hence a haemolytic anaemia, simple heterozygotes for the α29Leu→Pro mutation have the phenotype of α‐thalassaemia trait. Copyright © 1993, Wiley Blackwell. All rights reserved (EN)
English
Ερευνητικό υλικό ΕΚΠΑ
https://creativecommons.org/licenses/by-nc/4.0/
University of Athens
Pergamos Digital Library
Journal Article



*Institutions are responsible for keeping their URLs functional (digital file, item page in repository site)