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β‐and non‐β‐thalassaemia in Sardinia and their frequencies

β‐and non‐β‐thalassaemia in Sardinia and their frequencies BY L. TERRENATO Istituto di Cenetica, F m l t a ’ di Scienze, Universita’ di Roma, Roma,Italy The genetics of thalassaemia is still far from being completely understood and will probably remain so as long as the classification of the relevant genotypes is performed at a level different from that of the genetic material itself. It is therefore no wonder that though numerous varieties of thalassaemia have been recognized, no general agreement has been reached so far as to their precise genetical classification. There is, however, a starting-point on which everybody agrees, i.e. the unquestionable existence of at least three main types of thalassaemia which can be operationally defined as follows : (i) The a-thalassaemias involving a complete or partial suppression of the synthesis of the haemoglobin a-chain and capable of interaction with the structural mutants of that chain. (ii) The @-thalassaemias,involving a complete or partial suppression of the synthesis of the haemoglobin /3-chain and capable of interaction with the structural mutants of that chain. (iii) The Lepore thalassaemias, the only ones that can also be classified through a wellidentified qualitative variation of the product of the relevant gene. They involve a depressed rate of synthesis of http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Annals of Human Genetics Wiley

β‐and non‐β‐thalassaemia in Sardinia and their frequencies

TERRENATO, L.
Annals of Human Genetics , Volume 36 (3) – Jan 1, 1973
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References (24)

Publisher
Wiley
Copyright
Copyright © 1973 Wiley Subscription Services, Inc., A Wiley Company
ISSN
0003-4800
eISSN
1469-1809
DOI
10.1111/j.1469-1809.1973.tb00591.x
Publisher site
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Abstract

BY L. TERRENATO Istituto di Cenetica, F m l t a ’ di Scienze, Universita’ di Roma, Roma,Italy The genetics of thalassaemia is still far from being completely understood and will probably remain so as long as the classification of the relevant genotypes is performed at a level different from that of the genetic material itself. It is therefore no wonder that though numerous varieties of thalassaemia have been recognized, no general agreement has been reached so far as to their precise genetical classification. There is, however, a starting-point on which everybody agrees, i.e. the unquestionable existence of at least three main types of thalassaemia which can be operationally defined as follows : (i) The a-thalassaemias involving a complete or partial suppression of the synthesis of the haemoglobin a-chain and capable of interaction with the structural mutants of that chain. (ii) The @-thalassaemias,involving a complete or partial suppression of the synthesis of the haemoglobin /3-chain and capable of interaction with the structural mutants of that chain. (iii) The Lepore thalassaemias, the only ones that can also be classified through a wellidentified qualitative variation of the product of the relevant gene. They involve a depressed rate of synthesis of

Journal

Annals of Human Genetics – Wiley

Published: Jan 1, 1973

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