Delta +-thalassemia in Sardinia.
We have defined a new type of delta-thalassemia in which beta-globin chain synthesis is incompletely suppressed. Homozygotes have unusually low HbA2 levels, and double heterozygosity for this delta-thalassemia gene and beta-thalassemia normalizes the HbA2 level. The delta-thalassemia occurs on a chromosome that is identifiable using polymorphic restriction endonuclease sites. We call this condition delta +-thalassemia, to distinguish it from the previously described delta 0-thalassemia syndromes in which no delta-globin chain synthesis occurs.
D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes / Q000378:metabolism; D006443:Hemoglobin A2 / Q000096:biosynthesis; D006455:Hemoglobins, Abnormal / Q000096:biosynthesis; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007558:Italy; D008297:Male; D010375:Pedigree; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology* / Q000235:genetics
D006455:Hemoglobins, Abnormal; D006443:Hemoglobin A2; D004262:DNA Restriction Enzymes