title: Alpha thalassaemia in an Italian population.
abstract: The incidence of alpha-thalassaemia in an Italian population has been determined by a survey of random cord bloods for the presence of Hb Bart's. 144 out of 4730 (3%) had detectable amounts of Hb Bart's. Furthermore, alpha-globin gene analysis of 100 random cord bloods showed that five out of 100 had the common type of alpha-thalassaemia caused by a single alpha-globin gene deletion (-alpha). The molecular basis of alpha-thalassaemia was also determined in a selected group of 34 newborns with detectable levels of Hb Bart's. 25 of these cases had the -alpha 3.7 deletion type of alpha-thalassaemia and nine had nondeletion types of alpha-thalassaemia in four of which the molecular defect was detectable directly by restriction enzyme analysis.
mesh_terms: D002872:Chromosome Deletion; D005312:Fetal Blood / Q000032:analysis; D005914:Globins / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000032:analysis; D006801:Humans; D007231:Infant, Newborn; D007558:Italy; D013789:Thalassemia / Q000097:blood / Q000453:epidemiology* / Q000235:genetics
chemical_list: D006455:Hemoglobins, Abnormal; D005914:Globins; C030448:hemoglobin Bart's