THE HETEROGENEITY OF THE GAMMA-CHAIN OF FETAL HEMOGLOBIN IN HBS HETEROZYGOTES

  • 1 January 1982
    • journal article
    • research article
    • Vol. 60  (2) , 513-518
Abstract
The relative quantities of the 3 types of .gamma. chain (G.gamma., A.gamma.I A.gamma.T) were determined in 18 AS parents of selected SS patients, in 15 additional HbS heterozygotes, as well as in additional SS patients, and in 35 SS and 24 AS newborn babies. The low amount of HbF in all AS adults (< 1%) made it necessary to further improve the isolation procedure of HbF, which was accomplished by introducing an HPLC [high-pressure liquid chromatography] method. The additional data for older SS patients confirmed the existence of 2 groups characterized by either low G.gamma. (40%) or high G.gamma. (60%) values in their HbF. A distinction into high G.gamma. and low G.GAMMA. producers could also be made for HbS heterozygotes. Family studies, made it unlikely that the high G.gamma. condition was inherited in a simple mendelian fashion assuming a change in a regulatory mechanism. The presence of the A.gamma.T mutation, occurring either in cis or in trans to the .beta.S mutation, was used to evaluate the possible contribution by specific .gamma.-chain genes to the .gamma.-chain composition of the HbF of adult AS persons. No clear pattern became evident, suggesting that most of the .gamma.-chain of this small amount of HbF could originate from .gamma.-chain genes in cis or in trains to the .beta.S gene or from both sets of genes. Heterogeneity among F-cells may be a primary cause of the observed differences in .gamma.-chain composition of HbF in HbS heterozygotes.

This publication has 0 references indexed in Scilit: