STUDIES ON THE DISTRIBUTION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE DEFICIENCY, THALASSEMIA, AND OTHER GENETIC TRAITS IN THE COASTAL AND MOUNTAIN VILLAGES OF CYPRUS.
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A programme for the prevention of beta-homozygous thalassaemia has been operating in Cyprus from 1973. From 1976 there has been an increasing gap between the number of homozygotes born and…
Abstract In order to gain understanding of some of the problems of genetic counseling for a severe recessive disease in England, a Greek Cypriot extended family including 87 living members…
Abstract We have identified 12 individuals who are heterozygous for a chromosome with three alpha-globin genes. We determined the presence of the third alpha-globin locus by restriction endonuclease digestion and…
Abstract We investigated the molecular basis of hemoglobin-H disease by hybridization and restriction endonuclease mapping of the DNA in the Mediterranean populations. Of the 12 patients studied from Cyprus and…
Abstract The feasibility of using restriction fragment length polymorphisms ( RFLPs ) for the antenatal diagnosis of beta thalassaemia in the U.K.-resident Cypriot and Asian Indian populations has been determined.…
Abstract A new polymorphic BgI II restriction endonuclease site in the alpha-globin gene complex has been found in Cypriot, Sardinian, and Greek populations. In all cases, this polymorphism is linked…
Abstract The genetic factors responsible for the relatively mild clinical phenotypes of some cases of homozygous beta zero thalassaemia (thalassaemia intermedia) in Sardinia have been evaluated. The frequency of deletion…