Beta zero-thalassemia in association with a gamma-globin gene
quadruplication
KG Yang, JZ Liu, F Kutlar, A Kutlar, C Altay, A Gurgey and TH Huisman
We have studied the hematology, hemoglobin composition, and globin gene
arrangements in one young Turkish boy with a beta zero-thalassemia
homozygosity and in 11 of his relatives. Evidence is presented that the
chromosome with the beta zero-thalassemia determinant carries a gamma-
globin gene quadruplication, perhaps in a -G gamma-G gamma-G gamma-A
gamma-gene arrangement. The eight gamma-globin genes in this patient
produced G gamma and A gamma chains in a 95 to 5 ratio, and nearly 99% of
the patient's hemoglobin was of the fetal type. The clinical condition
resembled that of a thalassemia intermedia. HbF levels in eight
beta-thalassemia heterozygotes varied between 0.5 and 4.2% and the
percentages of G gamma in this HbF averaged at 87% or 95%; this level is to
some extent related to the haplotype of the normal chromosome. All subjects
carried four alpha-globin genes; a new BglII polymorphism was observed
within the psi alpha-globin gene.
Volume 68,
Issue 6,
pp. 1394-1397,
12/01/1986
Copyright © 1986 by The American Society of Hematology
