Hematological and gene mapping studies of 2 Southern Italian children doubly heterozygous for .delta.o-thalassemia and .delta.o.beta.o-thalassemia were carried out. No HbA2 was detectable by electrophoresis of total Hb in these patients. Restriction enzyme analysis of the globin gene cluster with .delta., .gamma., .epsilon. and RIH cloned probes showed all the expected normal bands, in addition to the abnormal fragments related to a previously described type of .delta.o.beta.o-thalassemic deletion, demonstrating an apparently intact globin gene cluster on the thalassemic chromosome. The relevance of this finding to models for coordinated expression of non .alpha. globin genes is discussed.
DELTA THALASSEMIA A NONDELETION DEFECT
TAGARELLI A;
1983
Abstract
Hematological and gene mapping studies of 2 Southern Italian children doubly heterozygous for .delta.o-thalassemia and .delta.o.beta.o-thalassemia were carried out. No HbA2 was detectable by electrophoresis of total Hb in these patients. Restriction enzyme analysis of the globin gene cluster with .delta., .gamma., .epsilon. and RIH cloned probes showed all the expected normal bands, in addition to the abnormal fragments related to a previously described type of .delta.o.beta.o-thalassemic deletion, demonstrating an apparently intact globin gene cluster on the thalassemic chromosome. The relevance of this finding to models for coordinated expression of non .alpha. globin genes is discussed.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
