{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:12:41Z","timestamp":1759691561864,"version":"build-2065373602"},"reference-count":10,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,10]]},"abstract":"<jats:p>On the basis of the hypothesis that in the regions where favism is present a high correlation exists between endemic malaria and the frequency of G-6-PD deficiency, Huheey and Martin (1975) in a recent paper suggest that the haemolytic event in a malarial environment is a favourable selective factor. Therefore, the fitness of the G-6-PD-deficient individual who shows haemolysis is higher than that of those who do not show haemolysis. Modiano (1976) also suggested that haemolysis may not be a negative component of the selective forces which act on the G-6-PD-deficient variants.<\/jats:p>\n               <jats:p>In this paper, some facts which make these hypotheses unlikely are considered. Other, more promising, lines for the analysis of the complex relation between malaria and G-6-PD deficiency are suggested.<\/jats:p>\n               <jats:p>In Sardinia and in the area of the Po Delta, even though favism is present, there is a very low correlation between the frequency of G-6-PD deficiency and past malarial morbidity. Therefore, the situation is similar to that observed in other parts of the world, in which malaria is highly endemic, but where favism is absent.<\/jats:p>\n               <jats:p>The following facts seem to be in contrast with the possibility that haemolysis could `by itself' be a favourable event: (1) In the hemizygous male, haemolysis due to favism is generally severe and there is a high mortality rate; (2) In the heterozygous female, the erythrocytes with G-6-PD deficiency seem to show a low parasite rate compared to normal cells, and it is just these erythrocytes that are destroyed during the haemolytic crisis; (3) In malarial environments, enzymopenic variants associated with continuous haemolysis have not been selected. A positive selection of such variants would be expected if haemolysis was `by itself' a positive factor.<\/jats:p>\n               <jats:p>Several observations suggest that the G-6-PD system interacts with various factors, both genetical (thalassaemia, erythrocyte acid phosphatase, adenosine deaminase) and environmental (Vicia Faba, altitude, viral and protozoal diseases). In a malarial environment, therefore, the fitness of the different G-6-PD genotypes depends on numerous variables. This could explain the low correlation generally observed between the degree of malarial endemicity and the frequency of G-6-PD deficiency.<\/jats:p>\n               <jats:p>Further analysis of the above interactions could elucidate the mechanisms which have brought about the selection of certain types of enzymopenic variants in malarial regions.<\/jats:p>","DOI":"10.1136\/jmg.15.5.363","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"363-365","source":"Crossref","is-referenced-by-count":4,"title":["On the relation between malaria and G-6-PD deficiency"],"prefix":"10.1136","volume":"15","author":[{"given":"E.","family":"Bottini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Gloria-Bottini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Maggioni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,10,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1126\/science.171.3969.409","article-title":"Favism: association with erythrocyte acid phosphatase phenotype","volume":"171","author":"Bottini, E.; Lucarelli, P.; Agostino, R.; Palmarino, R.; Businco, L.; Antognoni, G.","year":"1971","unstructured":"Bottini, E., Lucarelli, P., Agostino, R., Palmarino, R., Businco, L., and Antognoni, G. (1971). Favism: association with erythrocyte acid phosphatase phenotype. Science, 171, 409-411.","journal-title":"Science"},{"key":"ref_2","first-page":"241","article-title":"Le,-talassemie. Colloqui \"Genetica di Popolazioni\". Atti dei Convegni","volume":"14","author":"Conconi, F.; Del Senno, L.; Guglielmini, C.","year":"1976","unstructured":"Conconi, F., Del Senno, L., and Guglielmini, C. (1976). Le,-talassemie. Colloqui \"Genetica di Popolazioni\". Atti dei Convegni Lincei, Vol. 14, pp. 241-25 1.","journal-title":"Lincei"},{"key":"ref_3","first-page":"271","article-title":"Deficienza di glucosio-6-fosfato deidrogenasi eritrocitaria","volume":"18","author":"Gandini, E.; Menini, C.; De Filippis, A.; Dell'Acqua, G.","year":"1969","unstructured":"Gandini, E., Menini, C., De Filippis, A., and Dell'Acqua, G. (1969). Deficienza di glucosio-6-fosfato deidrogenasi eritrocitaria. Acta Geneticae Medicae et Gemellologiae, 18, 271-284.","journal-title":"Acta Geneticae Medicae et Gemellologiae"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1145","DOI":"10.1007\/BF02326760","article-title":"Malaria, favism and glucose-6-phosphate dehydrogenase deficiency","volume":"31","author":"Huheey, J.E.; Martin, D.L.","year":"1975","unstructured":"Huheey, J. E., and Martin, D. L. (1975). Malaria, favism and glucose-6-phosphate dehydrogenase deficiency. Experientia, 31, 1145-1147.","journal-title":"Experientia"},{"key":"ref_5","first-page":"1","article-title":"Adenosine deaminase polymorphism in Sardinia","volume":"14","author":"Lucareili, P.; Agostino, R.; Palmarino, R.; Bottini, E.","year":"1971","unstructured":"Lucareili, P., Agostino, R., Palmarino, R., and Bottini, E. (1971). Adenosine deaminase polymorphism in Sardinia. Humangenetik, 14, 1-5.","journal-title":"Humangenetik"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1126\/science.164.3881.839","article-title":"Glucose-6phosphate dehydrogenase deficient red celis: resistance to infection by malarial parasites","volume":"164","author":"Luzzatto, L.; Usanga, E.A.; Reddy, S.","year":"1969","unstructured":"Luzzatto, L., Usanga, E. A., and Reddy, S. (1969). Glucose-6phosphate dehydrogenase deficient red celis: resistance to infection by malarial parasites. Science, 164, 839-842.","journal-title":"Science"},{"key":"ref_7","first-page":"212","article-title":"Colloqui \"Genetica di Popolazioni\". Atti dei Convegni","volume":"14","author":"Modiano, G.","year":"1976","unstructured":"Modiano, G. (1976). Colloqui \"Genetica di Popolazioni\". Atti dei Convegni Lincei, Vol. 14, pp. 212-213.","journal-title":"Lincei"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1002\/ajpa.1330430205","article-title":"Red celi acid phosphatase: another polymorphism correlated with malaria?","volume":"43","author":"Palmarino, R.; Agostino, R.; Gloria, F.; Lucarelli, P.; Businco, L.; Antognoni, G.; Maggioni, G.; Workman, P.L.; Bottini, E.","year":"1975","unstructured":"Palmarino, R., Agostino, R., Gloria, F., Lucarelli, P., Businco, L., Antognoni, G., Maggioni, G., Workman, P. L., and Bottini, E. (1975). Red celi acid phosphatase: another polymorphism correlated with malaria? American Journal of Physical Anthropology, 43, 177-186.","journal-title":"American Journal of Physical Anthropology"},{"key":"ref_9","first-page":"379393","article-title":"Population genetics of haemoglobin variants, thalassaemia and glucose-6-phosphate dehydrogenase deficiency, with particular reference to the malaria hypothesis","volume":"34","author":"Siniscalco, M.; Bernini, L.; Filippi, G.; Latte, B.; Meera Khan, P.; Piomelli, S.; Rattazzi, M.","year":"1966","unstructured":"Siniscalco, M., Bernini, L., Filippi, G., Latte, B., Meera Khan, P., Piomelli, S., and Rattazzi, M. (1966). Population genetics of haemoglobin variants, thalassaemia and glucose-6-phosphate dehydrogenase deficiency, with particular reference to the malaria hypothesis. 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Nature, 190, 1179-1180.","journal-title":"Nature"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.15.5.363","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T18:52:47Z","timestamp":1759690367000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.15.5.363"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1978,10]]},"references-count":10,"journal-issue":{"issue":"5","published-online":{"date-parts":[[1978,10,1]]},"published-print":{"date-parts":[[1978,10]]}},"alternative-id":["10.1136\/jmg.15.5.363"],"URL":"https:\/\/doi.org\/10.1136\/jmg.15.5.363","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1978,10]]}}}