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At least 649 records · Page 36Linked to original sources
PubMed1983

Globin gene mapping studies in Sardinian patients homozygous for beta zero Thalassaemia.

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 forms of alpha thalassaemia was higher in patients with thalassaemia intermedia (6/8) than in those with thalassaemia major (6/17). The beta globin gene clusters were also studied, first to determine whether there were any rearrangements of the gamma genes, and second to see whether the restriction fragment length polymorphism patterns (haplotypes) of the two groups of patients were similar. The structure of the gamma genes was normal in all the patients with the single exception of a thalassaemia major patient with a triplicated gamma gene arrangement. The beta globin gene cluster haplotypes of the two groups of patients were not significantly different. However, the frequency of the various haplotypes in the thalassaemic as compared to the normal (beta A) chromosomes was different. This finding is of potential value in the antenatal diagnosis of homozygous beta thalassaemia in this population.

Child↗
PubMedDate not supplied

Pulmonary capillary haemangiomatosis.

A Cypriot male of 22 years died after suffering recurrent daily haemoptyses of varying severity and slowly increasing effort intolerance for a period of four and a half years. Examination of a lung biopsy specimen revealed dilated vascular channels suggestive of a congenital anomaly of the pulmonary vasculature. Histological examination of the lung following necropsy revealed the diagnosis of pulmonary capillary haemangiomatosis. In this condition sheets of thin-walled blood vessels infiltrate the lung parenchyma, the walls of pulmonary arteries and veins, the bronchi and the pleura. The infiltration of pulmonary veins and venules induces secondary pulmonary veno-occlusive disease. This appears to be the second example of this disease which has been reported. It is open to clinical and histological mis-diagnosis and clinicians and pathologists should be aware of the existence of this entity.

Adult↗
PubMed1984

Feasibility of antenatal diagnosis of beta thalassaemia by DNA polymorphisms in Asian Indian and Cypriot populations.

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. Seven polymorphic restriction endonuclease sites in the beta globin gene cluster were analysed in 20 Cypriot and 42 Asian patients and their parents and the combination of polymorphic sites (haplotype) for each chromosome determined. It was found that 76% of the Asian and 35% of the Cypriot families had DNA polymorphisms which would allow antenatal diagnosis of a homozygous beta thalassaemic fetus, and that in the majority of the remaining families there was a 50% chance of a successful diagnosis of either a normal or a heterozygous fetus. These results indicate that RFLP analysis of fetal DNA is a useful method for antenatal diagnosis of beta thalassaemia in families with either a normal or homozygous beta thalassaemia child, especially in the Asian population in the U.K.

Child↗
PubMed1982

Alpha-thalassemia in two Mediterranean populations.

We used restriction endonuclease analysis to determine the incidence of alpha-thalassemia in two Mediterranean islands. In a random population sample, the gene frequency of deletion-type alpha-thalassemia-2 (-alpha) was 0.18 in Sardinians and 0.07 in Greek Cypriots. All cases were the rightward crossover type. From these frequencies and the known incidence of hemoglobin-H disease in these populations, we calculated the frequency of the alpha-thalassemia-1 genotype (--) and determined that it was low. We also found that beta-thalassemia homozygotes in sardinia have a higher incidence of alpha-thalassemia than normals and beta thalassemia heterozygotes because a significantly greater number of these homozygotes are also homozygous for the alpha-thalassemia-2 lesion. These findings support the theory that coinheritance of alpha-thalassemia mitigates the severity of beta-thalassemia and suggest that the protection is most pronounced when two alpha-globin genes are deleted.

Cyprus↗