Differences between alpha- and beta-chain mutants of human haemoglobin and between alpha- and beta-thalassaemia. Possible duplication of the alpha-chain gene.

British medical journal ·Vol. 4 ·No. 5633 ·1968-12-21 ·Pages 748-50

Lehmann H, Carrell RW

Abstract

Human adult haemoglobin consists of two unlike pairs of polypeptide chains, and can be described as alpha(2)beta(2). Amino-acid substitutions in either of the two types of chain result in alpha- and beta-chain variants. In thalassaemia, which causes a lowered production of haemoglobin, the alpha or the beta chain can be affected, the result being alpha- or beta-thalassaemia. There is a quantitative difference in the proportion of alpha- and beta-chain variants to normal haemoglobin in the respective heterozygotes, and there is also a difference in the pattern of inheritance of alpha- and beta-thalassaemia: these could possibly be explained by assuming that man has one gene for the beta- and two for the alpha-chain.

MeSH Terms

Hemoglobins/biosynthesis,isolation & purification Hemoglobins, Abnormal Humans Molecular Biology Mutation Thalassemia/genetics

Chemicals

Hemoglobins Hemoglobins, Abnormal

Authors & Affiliations

2 authors, click to expand affiliations / ORCID

Lehmann H

Carrell R W

References (11)

11 references, click to expand

The ambiguities in the rabbit hemoglobin: evidence for a messenger RNA translated specifically into hemoglobin.
Biochem Biophys Res Commun. 1968 Aug 13;32(3):558-61 PMID: 5666739
The heterogeneity of goat hemoglobin: evidence for the existence of two nonallelic and one allelic alpha chain structural genes.
Arch Biochem Biophys. 1967 Aug;121(2):528-30 PMID: 6057120
New hemoglobin possessing a higher electrophoretic mobility than normal adult hemoglobin.
Science. 1955 Mar 11;121(3141):372 PMID: 13237998
The amino-acid sequence x-ray methods, and its correlation with chemical data.
Nature. 1961 May 20;190:666-70 PMID: 13752474
Evidence for multiple structural genes for the gamma chain of human fetal hemoglobin.
Proc Natl Acad Sci U S A. 1968 Jun;60(2):537-44 PMID: 5248810
The hemoglobin heterogeneity of the Virginia white-tailed deer: a possible genetic explanation.
Arch Biochem Biophys. 1968 Sep 20;127(1):711-7 PMID: 5698016
HAEMOGLOBIN H DISEASE IN THAILAND: A GENETICAL STUDY.
Nature. 1964 Nov 28;204:907-8 PMID: 14235731
RELATIONSHIP OF HEMOGLOBIN BART'S AND H TO ALPHA THALASSEMIA.
Ann N Y Acad Sci. 1964 Oct 7;119:463-73 PMID: 14219426
Amino-acid replacements in horse haemoglobin.
Nature. 1967 Jan 21;213(5073):269-71 PMID: 6030605
[Description of a new variety of congenital hemolytic anemia; hematologic study, electrophoretic and genetic].
Sang. 1955;26(9):911-9 PMID: 13337095
Molecular pathology of human haemoglobin.
Nature. 1968 Aug 31;219(5157):902-9 PMID: 5691676

Article Info

Journal

British medical journal

Abbr.

Br Med J

ISSN

0007-1447

DOI

10.1136/bmj.4.5633.748

Published

1968-12-21

Pages

748-50

Language

English

Region

England

NLM ID

0372673

PMCID

PMC1912890

Subset

External Links

PubMed source DOI: 10.1136/bmj.4.5633.748 PMC Full Text

Analysis Services

Differences between alpha- and beta-chain mutants of human haemoglobin and between alpha- and beta-thalassaemia. Possible duplication of the alpha-chain gene.

Contact

WeChat Official Account