Thalassaemia and Haldane's approximation.
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Five Cypriots homozygous for beta +-thalassaemia have inherited deletion or non-deletion forms of alpha-thalassaemia that seem to have modified the usually severe clinical picture to that of mild thalassaemia intermedia. These observations have important implications for the antenatal diagnosis of beta-thalassaemia.
Much of the clinical variability in the course of homozygous beta thalassaemia in the Cypriot population can be accounted for by the interaction of alpha thalassaemia and by the existence of different molecular forms of beta thalassaemia. Most severe forms of the disorder result from the homozygous state for the common Mediterranean type of beta thalassaemia. One particularly mild form of beta thalassaemia, which also occurs in other Mediterranean populations, results from a single base change at position 6 in the first intervening sequence of the beta-globin gene. These observations provide a basis for the development of a programme for first-trimester antenatal diagnosis using oligonucleotide probes.
The prevalence of a new polymorphism for the restriction enzyme Ava II in the psi beta-gene of the beta-globin gene cluster was determined in Mediterranean families with at least one beta-thalassaemia homozygote. The polymorphic site was absent in 54/115 beta-thalassaemic chromosomes but only in 4/120 normal chromosomes. The difference in frequencies of this polymorphism between normal and thalassaemic chromosomes greatly increases the feasibility of prenatal diagnosis of beta-thalassaemia by DNA analysis in this population.
A programme of prospective heterozygote detection and counselling, fetal diagnostic testing, and abortion of fetuses affected by thalassaemia major introduced in Britain in 1977 has proved highly acceptable to at-risk couples of Cypriot and East African Asian origin, but less so to couples of Pakistani origin. However, many at-risk couples are still not detected prospectively, the proportion of thalassaemia-major births prevented was only 32% by the end of 1981, and there is little evidence of a further fall since then. The thalassaemia-major birth-rate had fallen by 60% in Cypriots and by 20% in East African Asians, but it had not fallen at all in Pakistanis. Improved approaches to fetal diagnosis of thalassaemia major are becoming available, so a concerted effort is needed to inform all the at-risk ethnic groups of the existence of the problem and the possibility of detection of affected fetuses.
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A feasibility study in two Mediterranean populations showed that prenatal diagnosis of beta-thalassaemia with a limited number of synthetic oligonucleotide probes would have been possible in about 70% of cases. To provide a comprehensive programme of prenatal diagnosis for the thalassaemias it would be necessary, in most populations, to combine fetal DNA analysis with fetal blood sampling and globin-chain synthesis studies.
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This paper reports the results of a comparison of the rates of psychiatric disorder from three general population surveys in which the PSE-ID-CATEGO system was used for case-definition. These surveys were of an English sample in Camberwell, London, and of two Greek samples, the first in Athens, the second of Greek Cypriot immigrants living in Camberwell. The results show that the rates of psychiatric disorders in both Greek samples were somewhat higher than those of the Camberwell population, the differences being accounted for by higher rates of anxiety disorders, especially in women. Comparisons in terms of syndrome profiles showed that Greeks reported more symptoms of generalized anxiety than their English counterparts who, in their turn, reported higher rates of obsessive symptoms, and symptoms of social anxiety. The higher rates in the Greek samples were possibly due to an increased frequency of non-specific neurotic symptoms like worrying and tension. The results of other European community surveys with the PSE suggest that there might be a genuine and general North-South difference in the expression of psychological distress. Cultural differences in terms of personality traits and culturally sanctioned child rearing practices might account for the findings.
Data are presented from a study of acculturation and psychiatric disorder in 291 Greek Cypriot immigrants from the general population of Camberwell, south London. We hypothesized that 'pre-acculturation' would protect against mental disorder, that difficulties in the period immediately after migration would increase the risk of disorder, and that disorder would be least common among those in the middle range of the acculturation spectrum. Of pre-acculturation factors, only previous knowledge of English was associated with reduced prevalence. Difficulties in the settling-in period were clearly related to current disorder. No relationship was apparent between present acculturation and disorder, but this disguised an interesting but unpredicted gender effect: in males, disorder was most prevalent in the highly acculturated; in females, in the least acculturated.
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A range of estimates for sickle cell and beta thalassaemia have been derived for the different ethnic groups living in the U.K., reflecting uncertainty over the true population value in certain countries and the heterogeneity within and between countries of origin comprising the same ethnic group. These were validated against six community screening programmes, with the estimated range correctly predicting the number of affected births observed by the programmes. In England approximately 3000 affected babies (0.47%) carry sickle cell trait and 2800 (0.44%) carry beta thalassaemia trait annually: with approximately 178 (0.28 per 1000 conceptions) affected by sickle cell disease (SCD) and 43 (0.07 per 1000) by beta thalassaemia major/intermedia. Allowing for termination, about 140-175 (0.22-0.28 per 1000) affected infants are born annually with SCD and from 10 to 25 (0.02-0.04 per 1000) with beta thalassaemia major/intermedia. These are the first evidence-based rates for sickle cell and beta thalassaemia for use in the U.K., and should underpin the future planning of services. The long-term solution to monitoring changes in the rates of trait and disease in the population is to introduce a standardized instrument for collecting ethnicity for all community screening programmes.
There is considerable evidence to suggest that several cytokine genes are polymorphic, resulting in differential transcription and protein expression levels among individuals. It has also been demonstrated that ethnicity can be a determinant for distinctive cytokine polymorphism frequencies. In this study, we evaluated the distribution of cytokine gene polymorphisms in 100 healthy Greek Cypriot subjects, using polymerase chain reaction-sequence-specific primers (PCR-SSP) typing analysis. Cytokine gene polymorphisms were determined for transforming growth factor (TGF) beta1 codon 10 (TGFbetac10; C to T), TGFbeta1 codon 25 (TGFbetac25; G to C), tumour necrosis factor alpha (TNFalpha) promoter -308 (G to A), interleukin (IL)-6 promoter -174 (G to C), IL-10 promoter -1082 (G to A), IL-10 promoter -819 (C to T), IL-10 promoter -592 (C to A) and interferon gamma (IFNgamma) intron 1 +874 (A to T). Frequencies for the above cytokine genotypes were calculated for the Greek Cypriot population.
This paper describes some of the findings of a qualitative study into the health and illness beliefs of Greek Cypriots living in London. Data were collected through group and individual in-depth interviews and were analysed using the grounded theory approach of constant comparison and saturation. Two of the six themes which were identified are discussed in this paper. The findings provide the reader with important insights into Greek Cypriots' beliefs of health and illness. The paper argues that the understanding of such beliefs from a cultural perspective is vitally important for all those involved in the provision of health care to this group.
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