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

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.

• Authors: G Trabuchet, M Benabadji, D Labie
• Journal: Human genetics (Hum Genet) Vol. 42 Issue 2 Pg. 189-99 (Jun 09 1978) ISSN: 0340-6717 [Print] Germany
• PMID: 669703 (Publication Type: Journal Article)

Chemical References

• Hemoglobins, Abnormal
• Hemoglobin J

Topics

• Algeria
• Cell Count
• Chromosome Mapping
• Erythrocytes (cytology)
• Female
• Genes
• Hemoglobin J (genetics)
• Hemoglobins, Abnormal (genetics)
• Heterozygote
• Homozygote
• Humans
• Male
• Pedigree
• Thalassemia (blood, genetics)