ISSN:
1432-1203
Source:
Springer Online Journal Archives 1860-2000
Topics:
Biology
,
Medicine
Notes:
Abstract We have analyzed the β-thalassemia mutations in 99 chromosomes of 49 adults with β-thalassemia major and of one with Hb S-β-thalassemia, who are regular patients at a large hematology clinic in Bakü, Azerbaijan. A total of 20 different mutants were identified; three [frameshift at codon 8 (-AA); IVS-II-I (G→A); IVS-I-110 (G→A)] were present in about two-thirds of all chromosomes. Most alleles are the same as found in Mediterranean populations; a few have an Asian origin or come from Kurdistan, Lebanon, Saudi Arabia, or a black population. One mutant [frameshift at codons 82/ 83 (-G)] might be specific for the Azerbaijanian population. Nearly all patients were transfused, which made quantitation of Hb F impossible; highGγ values were present in the Hb F of those patients whose β-thalassemia chromosome carried the C → T mutation at position — 158 in the promoter of the Gγ-globin gene.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF00220470
