Gamma-chain heterogeneity in Greek (delta beta)zero-thalassemia.
A molecular and biochemical population study of (delta beta)zero thalassemia in central Greece is described. The molecular study was focused on the type of the deletion and the status of G gamma-XmnI polymorphism, whereas the biochemical approach was centered on the G gamma/A gamma ratio as well as the frequency of the A gamma T chain in the fetal hemoglobin of 19 delta beta-thalassemia heterozygotes and 3 homozygotes. This study includes individuals from the mountainous district of Epirus (northwestern Greece) where the trait was found to be concentrated along the river Arachthos. The Sicilian (delta beta)zero thalassemia deletion was found in all subjects tested by direct PCR. The levels for the G gamma-chain presented values ranging from 29 to 83% of the total gamma-chain content. Thirteen heterozygotes had the adult G gamma/A gamma ratio (mean G gamma: 35% +/- 10) of whom 10 were XmnI-negative (- / -), 6 had the newborn ratio (mean G gamma: 70% +/- 9) and were XmnI-positive, while homozygotes had equal amounts of G gamma and A gamma. Five of the 19 heterozygotes were A gamma T-positive with low levels of this A gamma-chain variant, suggesting an in-trans to the delta beta-thalassemia determinant production.
Georgiou
I
I
Dept. of Obstetrics and Gynecology, University of Ioannina Medical School, Greece.
Seferiadis
K
K
Lolis
D
D
Tsolas
O
O
Bourantas
K L
KL
D000293:Adolescent; D000328:Adult; D002851:Chromatography, High Pressure Liquid; D004912:Erythrocytes / Q000378:metabolism; D005260:Female; D005319:Fetal Hemoglobin / Q000032:analysis* / Q000737:chemistry / Q000235:genetics; D017353:Gene Deletion; D006115:Greece / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics / Q000378:metabolism*
D005319:Fetal Hemoglobin