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PMID: 669703 Published · ppublish English Journal Article

Genetic and biosynthetic studies of families carrying hemoglobin J alpha Mexico: association of alpha-thalassemia with HbJ.

Human genetics ·Vol. 42 ·No. 2 ·1978-06-09 ·Pages 189-99

Trabuchet G, Benabadji M, Labie D

Abstract

Hemoglobin J Mexico, an alpha chain mutant, was studied in eight unrelated Algerian families. The quantities of the abnormal hemoglobin in 116 subjects are trimodally distributed: 55% in homozygotes, 31% and 38% in heterozygotes. Both hematological data and the alpha/beta chain biosynthetic ratio are normal in heterozygotes with 31% Hb J and in homozygotes. In contrast, the MCV and MCH as well as the alpha/beta biosynthetic ratio are slightly reduced in heterozygotes with 38% Hb J and in their relatives carrying Hb A. The elevated expression of alphaJ chains in heterozygotes with 38% Hb J may be due to an alpha thalassemia gene trans to the alphaJ locus.

MeSH Terms
Algeria Cell Count Chromosome Mapping Erythrocytes/cytology Female Genes Hemoglobin J/genetics Hemoglobins, Abnormal/genetics Heterozygote Homozygote Humans Male Pedigree Thalassemia/blood,genetics
Chemicals
Hemoglobins, Abnormal Hemoglobin J
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Trabuchet G
Benabadji M
Labie D
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23 references, click to expand
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Article Info
Journal
Human genetics
Abbr.
Hum Genet
ISSN
0340-6717
DOI
10.1007/BF00283639
Published
1978-06-09
Pages
189-99
Language
English
Region
Germany
NLM ID
7613873
Subset
IM
External Links
PubMed source DOI: 10.1007/BF00283639 View journal details
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