title: The gamma globin chain heterogeneity of the Sardinian newborn baby.
abstract: The hemoglobin of 2048 newborn babies from Sardinia was analyzed by isoelectric focusing and polyacrylamide gel electrophoresis in order to determine the level of Hb F-Sardinia (with A gamma T) and the G gamma chain. Hb F-Sardinia values of 15.5 +/- 2.6% were present in the A gamma T heterozygote whereas 30.7 +/- 5.2% were present in the homozygote. The A gamma T gene frequency was 0.17. Most of the babies tested showed the normal G gamma level either in the absence of the A gamma T anomaly (69.6 +/- 4.1%), or in the presence of the anomaly in both the heterozygous state (70.9 +/- 4.8%) and the homozygous state (71.1 +/- 3.4%). Similar values were shown in nine homozygotes for beta-thalassemia discovered during the screening. Nine newborn babies (0.44%) showed particularly low G gamma levels (38.3 +/- 6.8%) whereas 18 newborn babies showed high G gamma levels (83.9 +/- 2.6%). The frequencies of the anomalies (0.0022 for the low G gamma and 0.0044 for the high G gamma) were the lowest observed in Caucasian and other ethnic groups. Data suggest the presence of abnormal gamma globin gene arrangements in the Sardinian population.
mesh_terms: D004591:Electrophoresis, Polyacrylamide Gel; D005312:Fetal Blood / Q000166:cytology; D005319:Fetal Hemoglobin / Q000032:analysis / Q000235:genetics*; D005787:Gene Frequency; D005820:Genetic Testing; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007525:Isoelectric Focusing; D010641:Phenotype; D011110:Polymorphism, Genetic; D013789:Thalassemia / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; C040337:hemoglobin F Sardinia; D005914:Globins; D005319:Fetal Hemoglobin