Homozygous cases for hemoglobin J Mexico (alpha54 (E3)Gln replaced by Glu) evidence for a duplicated alpha gene with unequal expression.
Hemoglobin J Mexico has been found in five generations of a large Algerian family. Nine subjects have 55% Hb J although their parents, siblings and offspring may have 31%, the usual quantity found in heterozygotes. Those with 55% Hb J are considered to be homozygous for a chromosome carrying both a normal alpha chain locus and a locus for alphaJ. The proportion of the abnormal hemoglobin in all the subjects is in favor of an unequal expression of both loci, the amount of protein synthesis directed by the alpha J gene being greater than that directed by the alpha A. In two heterozygotes a slightly higher proportion of the Hb J (38%) suggests the presence of a single normal alpha chain locus in trans. An associated alpha-thalassemia was excluded by biosynthetic studies in this family.
D005796:Genes; D005971:Glutamates / Q000097:blood; D005998:Glycine / Q000097:blood; D006448:Hemoglobin J; D006455:Hemoglobins, Abnormal; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008800:Mexico; D010375:Pedigree
D005971:Glutamates; D006455:Hemoglobins, Abnormal; D006448:Hemoglobin J; D005998:Glycine