Beta-thalassemia intermedia in two Turkish families is caused by the interaction of Hb Knossos [beta 27(B9)Ala----Ser] and of Hb City of Hope [beta 69(E13)Gly----ser] with beta (0)-thalassemia.
We have studied a few members of two Turkish families, who had a beta-thalassemia of the intermediate type. An abnormal hemoglobin was found in both families, which when present in association with beta(0)-thalassemia was considered to be the primary cause for the increased severity of the disease. In the first family this variant was Hb Knossos [beta 27(B9)Ala----Ser] which occurred together with the frameshift in codon #8 type of beta(0)-thalassemia. This compound heterozygosity, observed for the first time in the Turkish population was characterized by a considerable increase in Hb F production, mainly of the G gamma type, as expected for a chromosome with haplotype IV. In the second family, the variant was Hb City of Hope [beta 69(E13)Gly----Ser] which was present in combination with an unknown type of beta-thalassemia. The increase in Hb F production in the compound heterozygote was minimal. Reversed phase high performance liquid chromatography and the DNA amplification-synthetic oligonucleotide probe procedure were major tools in identifying the different abnormalities.
Kutlar
A
A
Laboratory of Protein Chemistry, Medical College of Georgia, Augusta 30912-1100.
Kutlar
F
F
Aksoy
M
M
Gurgey
A
A
Altay
C
C
Wilson
J B
JB
Diaz-Chico
J C
JC
Hu
H
H
Huisman
T H
TH
D000328:Adult; D002851:Chromatography, High Pressure Liquid; D015342:DNA Probes / Q000032:analysis; D005260:Female; D005319:Fetal Hemoglobin / Q000096:biosynthesis; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D015151:Immunoblotting; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013789:Thalassemia / Q000235:genetics*; D014421:Turkey
D015342:DNA Probes; D006455:Hemoglobins, Abnormal; C036232:hemoglobin Knossos; D005319:Fetal Hemoglobin; C043006:hemoglobin City of Hope