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Gamma‐chain heterogeneity in Greek (δβ) O ‐thalassemia.
Author(s) -
Georgiou Ioannis,
Seferiadis Konstantin,
Lolis Dimitrios,
Tsolas Orestes,
Bourantas Kostantinos L.
Publication year - 1995
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1995.tb01775.x
Subject(s) - heterozygote advantage , fetal hemoglobin , thalassemia , population , beta thalassemia , beta (programming language) , genetics , biology , microbiology and biotechnology , genotype , fetus , medicine , pregnancy , gene , environmental health , computer science , programming language
A molecular and biochemical population study of (δβ) O thalassemia in central Greece is described. The molecular study was focused on the type of the deletion and the status of G γ‐Xmn***l polymorphism, whereas the biochemical approach was centered on the G γ/ A γ ratio as well as the frequency of the A γ T chain in the fetal hemoglobin of 19 δβ‐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 (δβ) O thalassemia deletion was found in all subjects tested by direct PCR. The levels for the G γ‐chain presented values ranging from 29 to 83% of the total γ ‐chain content. Thirteen heterozygotes had the adult G γ / A γ ratio (mean G γ: 35% ± 10) of whom 10 were Xmnl‐negative (‐/‐), 6 had the newborn ratio (mean G γ: 70% ± 9) and were Xmnl‐positive, while homozygotes had equal amounts of G γ and A γ. Five of the 19 heterozygotes were A γ T ‐positive with low levels of this A γ‐chain variant, suggesting an in‐trans to the δβ‐thalassemia determinant production.