Thai G gamma (A gamma delta beta)zero-thalassemia and its interaction with a single gamma-globin gene on a chromosome carrying beta zero-thalassemia.
Clinical manifestations and hematologic data of thalassemia intermedia were observed in three siblings of a Thai family. Analyses of the hemoglobin of their parents and other siblings indicated that they inherited a delta beta-thalassemia gene from the father and a beta zero thalassemia gene from the mother. Globin gene mapping confirmed that they carry two abnormal beta-globin gene complexes. On one chromosome more than 70 kb of DNA was removed which resulted in G gamma (A gamma delta beta)zero-thalassemia. The deletion started at the Hind III site located just 3' to the G gamma gene, and extended downstream to a region recognized by the p3'N 2.8R probe which is located more than 45 kb from the 3' end of the beta gene. The other chromosome carried a beta zero thalassemia gene, and a 5 kb deletion between the G gamma and A gamma genes which produced a hybrid -GA gamma- gene. A synthetic oligonucleotide probe showed that this beta zero thalassemia arose from a C----T mutation at position 654 of IVS-II in the beta-globin gene.
Winichagoon
P
P
Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
Fucharoen
S
S
Thonglairoam
V
V
Wasi
P
P
D000293:Adolescent; D000328:Adult; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D005260:Female; D005914:Globins / Q000235:genetics*; D006403:Hematologic Tests; D006454:Hemoglobins / Q000032:analysis; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D015183:Restriction Mapping; D013785:Thailand; D013789:Thalassemia / Q000235:genetics*
D006454:Hemoglobins; D005914:Globins