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We have analyzed the beta-thalassemia mutations in 99 chromosomes of 49 adults with beta-thalassemia major and of one with Hb S-beta-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; high G gamma values were present in the Hb F of those patients whose beta-thalassemia chromosome carried the C-->T mutation at position -158 in the promoter of the G gamma-globin gene.
M A Cürük, and
G T Yüregir, and
C D Asadov, and
T Dadasova, and
L H Gu, and
E Baysal, and
Y C Gu, and
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T H Huisman
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Hemoglobin,
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G T Yüregir, and
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T H Huisman
July 1998,
Hemoglobin,
M A Cürük, and
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E Baysal, and
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T H Huisman
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Hemoglobin,
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E Baysal, and
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M L Ribeiro, and
T H Huisman
October 1993,
Human genetics,
M A Cürük, and
G T Yüregir, and
C D Asadov, and
T Dadasova, and
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E Baysal, and
Y C Gu, and
M L Ribeiro, and
T H Huisman
February 1992,
Human genetics,
M A Cürük, and
G T Yüregir, and
C D Asadov, and
T Dadasova, and
L H Gu, and
E Baysal, and
Y C Gu, and
M L Ribeiro, and
T H Huisman
January 1993,
Human mutation,
M A Cürük, and
G T Yüregir, and
C D Asadov, and
T Dadasova, and
L H Gu, and
E Baysal, and
Y C Gu, and
M L Ribeiro, and
T H Huisman
August 1990,
Human genetics,
M A Cürük, and
G T Yüregir, and
C D Asadov, and
T Dadasova, and
L H Gu, and
E Baysal, and
Y C Gu, and
M L Ribeiro, and
T H Huisman
September 1994,
Hemoglobin,
