The Gamma Globin Chain Heterogeneity of the Sardinian Newborn Baby

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 ^Aγ^T) and the A_γ 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 ^A_γ^T gene frequency was 0.17. Most of the babies tested showed the normal ^G_γ level either in the absence of the ^A_γ^T 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 ^G_γ levels (38.3 ± 6.8%) whereas 18 newborn babies showed high ^G_γ levels (83.9 ± 2.6%). The frequencies of the anomalies (0.0022 for the low ^G_γ and 0.0044 for the high ^G_γ were the lowest observed in Caucasian and other ethnic groups. Data suggest the presence of abnormal γ globin gene arrangements in the Sardinian population.