The Gamma Globin Chain Heterogeneity of the Sardinian Newborn Baby

Publisher Website
Google Scholar
Abstract
The hemoglobin of 2048 newborn babies from Sardinia was analyzed by isoelectricfocusing and polyacrylamide gel electrohoresis in order to determine the level of Hb F-Sardinia (with AγT) and the Aγ chain. Hb F-Sardinia values of 15.5 ± 2.6% were present in the Aγ heterozgote whereas 30.7 ± 5.2% were present in the homozygote. The AγT gene frequency was 0.17. Most of the babies tested showed the normal Gγ level either in the absence of the AγT anomaly (69.6 ± 4.1%), or in the presence of the anomaly in both the heterazygous state (70.9 ± 4.8%) and the homozygous state (71.1 ± 3.4%). Similar values were shown in nine homozygotes for β-thalassentia discovered during the screening. Nine newborn babies. (0.44%) showed particularly low Gγ levels (38.3 ± 6.8%) whereas 18 newborn babies showed high Gγ levels (83.9 ± 2.6%). The frequencies of the anomalies (0.0022 for the low Gγ and 0.0044 for the high Gγ were the lowest observed in Caucasian and other ethnic groups. Data suggest the presence of abnormal γ globin gene arrangements in the Sardinian population.