Homozygosity for a new type of G gamma (A gamma delta beta)zero-thalassemia in a Malaysian male.
Hematological and clinical data are presented for a young Malay patient with a homozygous (delta beta)zero-thalassemic condition. His red blood cells contained 100% fetal hemoglobin with alpha and G gamma chains only. Detailed gene mapping defined a large deletion with a 5' end between the Aha III and Apa I sites, some 200-400 bp 5' to the A gamma globin gene and a 3' end beyond sequences 17-18 kb 3' to the beta globin gene. This G gamma (A gamma delta beta)zero-type of thalassemia is different from all the other six types described before. Comparison of the hematological data of this patient with those of homozygotes for either the Sicilian or Spanish types of G gamma A gamma (delta beta)zero-thalassemia showed no differences; all homozygotes have a moderate anemia which is accentuated by the relatively high oxygen affinity of the Hb F containing erythrocytes.
D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D004262:DNA Restriction Enzymes; D005319:Fetal Hemoglobin / Q000235:genetics; D005914:Globins / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008297:Male; D013789:Thalassemia / Q000097:blood / Q000235:genetics*
D005914:Globins; D005319:Fetal Hemoglobin; D004262:DNA Restriction Enzymes