
The molecular basis for the haemoglobin Bart’s hydrops fetalis syndrome in Cyprus.
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 Haemoglobin Bart's was detected and quantitated in 42 babies during a survey of cord blood from neonates of Mediterranean origin. The distribution of Hb Bart's levels for the group…
Abstract The frequency of alpha-thalassaemia in Cyprus was determined with studies of haemoglobin Bart's in 1200 Greek Cypriot and 132 Turkish Cypriot newborn babies. Of the Greek newborns, 12.4%, and…
Abstract Eleven cases of sickle cell disease within the Sydney area are described. Eight of these are of homozygous sickle cell anaemia, and three are of the sickle cell-thalassaemia disease.…
Abstract Structural analysis documented the presence of haemoglobin LeporeWashington (=LeporeBoston) in a Greek Cypriot family and provided further evidence that, of the various types of Lepore mutants, only one is…
Abstract A survey in the Lebanese schools for the blind revealed that 77% of childhood blindness in the country was genetically determined. Two thirds of the hereditary blindness cases were…
Abstract