The haematological puzzle of Hb J Cape Town is partly solved.
Molecular studies have shown that the mutation giving rise to Hb J Cape Town (alpha 92 arg----gln) is situated on a chromosome from which the other alpha-globin gene has been deleted. The -alpha 3.7 deletion has resulted from crossing-over within segment I of the Z region of homology. There appears to be an unusually high proportion of the variant haemoglobin in heterozygotes which cannot be explained by gene dosage alone.
D002872:Chromosome Deletion; D005914:Globins / Q000235:genetics; D006443:Hemoglobin A2 / Q000032:analysis; D006448:Hemoglobin J / Q000032:analysis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D010375:Pedigree
D006455:Hemoglobins, Abnormal; D006448:Hemoglobin J; D005914:Globins; D006443:Hemoglobin A2