{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T07:41:07Z","timestamp":1760773267577,"version":"build-2065373602"},"reference-count":13,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1979,6]]},"abstract":"<jats:p>Cape Town has a Greek community of about 5000, of whom approximately 75% originate from the island of Lesbos. In a survey of inherited haematological conditions in this population, 250 unrelated volunteers were investigated. The prevalence of heterozygous beta-thalassaemia was found to be 6.4%, with a gene frequency of 0.033. G6PD deficiency was detected in 10 males and it can be estimated that the prevalence in the male members of this population is 6.7%, with a gene frequency of 0.067. Hereditary spherocytosis was found in three respondents and this represents a prevalence of 1.2%, with a gene frequency of 0.006. One subject was heterozygous for the sickle cell trait (HbS) and another volunteer had haemoglobin Lepore, which had already been diagnosed in Greece. Our findings with respect to beta-thalassaemia and G6PD deficiency are similar to those reported from regions in Greece where malaria is not highly endemic.<\/jats:p>","DOI":"10.1136\/jmg.16.3.197","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"197-200","source":"Crossref","is-referenced-by-count":1,"title":["Inherited anaemias in the Greek community of Cape Town."],"prefix":"10.1136","volume":"16","author":[{"given":"R P","family":"Bonafede","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M C","family":"Botha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Beighton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1979,6,1]]},"reference":[{"key":"ref_1","first-page":"483485","article-title":"Quantitive determination of A2 haemoglobin by filter paper electrophoresis","volume":"46","author":"Black, M.B.; Miller, H.; Wan, J.","year":"1966","unstructured":"Black, M. B., Miller, H., and Wan, J. (1966). Quantitive determination of A2 haemoglobin by filter paper electrophoresis. American Journal of Clinical Pathology, 46, 483485.","journal-title":"American Journal of Clinical Pathology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1001\/jama.1962.03050180032008","article-title":"The methaemoglobin reduction test for Primaquine-type sensitivity of erythrocytes","volume":"180","author":"Brewer, G.J.; Tarlov, A.R.; Alving, A.S.","year":"1962","unstructured":"Brewer, G. J., Tarlov, A. R., and Alving, A. S. (1962). The methaemoglobin reduction test for Primaquine-type sensitivity of erythrocytes. Journal of the American Medical Association, 180, 386-389.","journal-title":"Journal of the American Medical Association"},{"key":"ref_3","article-title":"Practical Haematology","author":"Dacie, J.V.; Lewis, S.M.","year":"1975","unstructured":"Dacie, J. V., and Lewis, S. M. (1975). Practical Haematology, 5th ed. Churchill, London.","edition":"5th ed"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1136\/bmj.1.6109.350","article-title":"Antenatal diagnosis of thalassaemia major","volume":"1","author":"Fairweather, D.V.I.; Modell, B.; Berdoukas, V.; Alter, B.P.; Nathan, D.J.","year":"1978","unstructured":"Fairweather, D. V. I., Modell, B., Berdoukas, V., Alter, B. P., and Nathan, D. J. (1978). Antenatal diagnosis of thalassaemia major. British Medical Journal, 1, 350-353.","journal-title":"British Medical Journal"},{"key":"ref_5","first-page":"1605","article-title":"In utero diagnosis of hemoglobinopathies","volume":"290","author":"Hobbins, J.C.; Mahoney, M.","year":"1974","unstructured":"Hobbins, J. C., and Mahoney, M. (1974). In utero diagnosis of hemoglobinopathies. New England Journal of Medicine, 290, 1605-1607.","journal-title":"New England Journal of Medicine"},{"key":"ref_6","first-page":"148","article-title":"Solubilities of naturally occurring mixtures of human haemoglobin","volume":"47","author":"Itano, H.A.","year":"1953","unstructured":"Itano, H. A. (1953). Solubilities of naturally occurring mixtures of human haemoglobin. Archives ofBiochemistry, 47, 148-159.","journal-title":"Archives ofBiochemistry"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"29","DOI":"10.3109\/03630267808999186","article-title":"Prevalence of PO and P+ thalassemia genes in Greek children with homozygous r-thalassemia","volume":"2","author":"Kattamis, C.; Karambula, K.; Metaxotou-Mavromati, A.; Ladis, V.; Constantopoulos, A.","year":"1978","unstructured":"Kattamis, C., Karambula, K., Metaxotou-Mavromati, A., Ladis, V., and Constantopoulos, A. (1978). Prevalence of PO and P+ thalassemia genes in Greek children with homozygous r-thalassemia. Hemoglobin, 2, 29-46.","journal-title":"Hemoglobin"},{"key":"ref_8","article-title":"The laboratory detection of abnormal haemoglobin","volume":"27","author":"Lehmann, H.; Ager, J.A.M.","year":"1960","unstructured":"Lehmann, H., and Ager, J. A. M. (1960). The laboratory detection of abnormal haemoglobin. Association of Clinical Pathologists Broadsheet No. 27.","journal-title":"Association of Clinical Pathologists Broadsheet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1111\/j.1365-2141.1962.tb06489.x","article-title":"Types of thalassaemia-trait carriers as revealed by a study oftheir incidence in Greece","volume":"8","author":"Malamos, B.; Fessas, P.; Stamatoyannopoulos, G.","year":"1962","unstructured":"Malamos, B., Fessas, P., and Stamatoyannopoulos, G. (1962). Types of thalassaemia-trait carriers as revealed by a study oftheir incidence in Greece. British Journal ofHaematology, 8, 5-14.","journal-title":"British Journal ofHaematology"},{"key":"ref_10","first-page":"28","article-title":"Metabolic polymorphism and the role of infectious diseases in human evolution","volume":"32","author":"Motulsky, A.G.","year":"1960","unstructured":"Motulsky, A. G. (1960). Metabolic polymorphism and the role of infectious diseases in human evolution. Human Biology, 32, 28-62.","journal-title":"Human Biology"},{"key":"ref_11","series-title":"Proceedings of the Conference on Genetic Polymorphisms and Geographic Variations in Disease","first-page":"159","article-title":"Guide to the Greek Communities of Southern Africa. Nea Hellas Newspaper, Transvaal","author":"Motulsky, A.G.; Campbell-Kraut, J.M.","year":"1961","unstructured":"Motulsky, A. G., and Campbell-Kraut, J. M. (1961). Proceedings of the Conference on Genetic Polymorphisms and Geographic Variations in Disease, p. 159. Ed. by B. S. Blumberg. Grune and Stratton, New York. Nickolaides, C. G. (1923). Guide to the Greek Communities of Southern Africa. Nea Hellas Newspaper, Transvaal."},{"key":"ref_12","first-page":"413","article-title":"Studies on abnormal hemoglobins, their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation","volume":"6","author":"Singer, K.; Chernoff, A.I.; Singer, L.","year":"1951","unstructured":"Singer, K., Chernoff, A. I., and Singer, L. (1951). Studies on abnormal hemoglobins, their demonstration in sickle cell anemia and other hematologic disorders by means of alkali denaturation. Blood, 6, 413-428.","journal-title":"Blood"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"875","DOI":"10.1136\/bmj.1.5387.875","article-title":"Thalassaemia, glucose-6-phosphate dehydrogenase deficiency, sickling and malarial endemicity in Greece: a study of five areas","volume":"1","author":"Stamatoyannopoulos, J.; Fessas, P.","year":"1964","unstructured":"Stamatoyannopoulos, J., and Fessas, P. (1964). Thalassaemia, glucose-6-phosphate dehydrogenase deficiency, sickling and malarial endemicity in Greece: a study of five areas. 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