Heterozygous beta-thalassaemia with normal haemoglobin pattern. Haematologic, haemoglobin and biosynthesis study of 4 families.
Thalassaemia with normal levels of Hb A2 and Hb F and with an alpha/beta ratio higher than 1 is described in 4 families. 3 of these families show direct or indirect signs of the presence of the delta-thalassaemia gene along with the beta-thalassaemia gene. The fourth family leaves the question as to whether there is a single mutation of the deltabeta tract or a beta + delta-thalassaemia in coupling unanswered. The necessity of knowing of the existence of this thalassaemia which conceals the presence of a beta-thalassaemia gene, is stressed, above all in view of the danger that mating between a carrier of this thalassaemia and a carrier of classical beta-thalassaemia could result in the birth of children with Cooley's disease.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002675:Child, Preschool; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis; D005914:Globins / Q000096:biosynthesis; D006441:Hemoglobin A / Q000032:analysis; D006454:Hemoglobins / Q000032:analysis*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D006454:Hemoglobins; D005914:Globins; D006441:Hemoglobin A; D005319:Fetal Hemoglobin