{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:55:18Z","timestamp":1761310518668,"version":"build-2065373602"},"reference-count":19,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1978,12]]},"abstract":"<jats:p>A Sicilian family is described in which the alpha-thalassaemia gene is interacting in several members with beta-thalassaemia resulting in a balanced alpha\/beta chain production ratio. In one patient, affected by homozygous beta-thalassaemia, the presence of alpha-thalassaemia resulted in a less severe clinical expression of the disease, less marked imbalance in the alpha\/non-alpha ratio, and a lower level of HbF. Further studies of haemoglobin synthesis are needed to clarify the complex genetic picture that results from the interaction of different forms of thalassaemia.<\/jats:p>","DOI":"10.1136\/jmg.15.6.448","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:50:51Z","timestamp":1226328651000},"page":"448-451","source":"Crossref","is-referenced-by-count":12,"title":["Thalassaemia of intermediate severity resulting from the interaction between alpha- and beta-thalassaemia."],"prefix":"10.1136","volume":"15","author":[{"given":"S","family":"Musumeci","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Schilir\u00f2","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Pizzarelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Russo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1978,12,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1198","DOI":"10.1038\/2121198a0","article-title":"Excess alpha chain synthesis relative to beta chain synthesis in thalassaemia major and minor","volume":"212","author":"Bank, A.; Marks, P.","year":"1966","unstructured":"Bank, A., and Marks, P. (1966). Excess alpha chain synthesis relative to beta chain synthesis in thalassaemia major and minor. Nature, 212, 1198-1200.","journal-title":"Nature"},{"key":"ref_2","first-page":"202","article-title":"A possible case of alpha-beta thalassaemia","volume":"12","author":"Bernini, L.; Colucci, C.F.; De Michele, D.; Piomelli, S.; Siniscalco, M.","year":"1962","unstructured":"Bernini, L., Colucci, C. F., De Michele, D., Piomelli, S., and Siniscalco, M. (1962). A possible case of alpha-beta thalassaemia. Acta Genetica et Statistica Medica, 12, 202-208.","journal-title":"Acta Genetica et Statistica Medica"},{"issue":"91-108","key":"ref_3","article-title":"Abnormal human haemoglobins: separation and characterization of the alpha and beta chains by chromatography and the determination of two new variants, Hb","volume":"19","author":"Clegg, J.B.; Naughton, M.A.; Weatherall, D.J.","year":"1966","unstructured":"Clegg, J. B., Naughton, M. A., and Weatherall, D. J. (1966). Abnormal human haemoglobins: separation and characterization of the alpha and beta chains by chromatography and the determination of two new variants, Hb Chesapeake and Hb J Bangkok. Journal ofMolecular Biology, 19,91-108.","journal-title":"Chesapeake and Hb J Bangkok. Journal ofMolecular Biology"},{"key":"ref_4","article-title":"Practical Haematology","author":"Dacie, J.V.; Lewis, S.M.","year":"1968","unstructured":"Dacie, J. V., and Lewis, S. M. (1968). Practical Haematology, 4th ed. Churchill, London.","edition":"4th ed"},{"key":"ref_5","first-page":"36","article-title":"La determinazione dell'Hb A2 mediante elettroforesi su acetato di cellulosa.'Rivista Pediatrica","volume":"24","author":"Di Stefano, G.; Marcellini, M.","year":"1969","unstructured":"Di Stefano, G., and Marcellini, M. (1969). La determinazione dell'Hb A2 mediante elettroforesi su acetato di cellulosa.'Rivista Pediatrica Siciliana, 24, 36-45.","journal-title":"Siciliana"},{"key":"ref_6","first-page":"90","article-title":"Beta-chain thalassaemias. In Haemoglobin Colloquium, Wien","author":"Fessas, P.","year":"1961","unstructured":"Fessas, P. (1961). Beta-chain thalassaemias. In Haemoglobin Colloquium, Wien, p. 90. Ed. by H. Lehman and K. -Betke. Thieme, Stuttgart."},{"key":"ref_7","first-page":"40","article-title":"The reaction of haemoglobin alphaA with Hb H and Hb Bart's","volume":"83","author":"Huens, E.R.; Beaven, G.H.","year":"1962","unstructured":"Huens, E. R., and Beaven, G. H. (1962). The reaction of haemoglobin alphaA with Hb H and Hb Bart's. Biochemical Journal, 83, 40.","journal-title":"Biochemical Journal"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1172\/JCI106274","article-title":"Mild thalassemia: the result of interaction of alpha and beta thalassemia genes","volume":"49","author":"Kan, Y.W.; Nathan, D.G.","year":"1970","unstructured":"Kan, Y. W., and Nathan, D. G. (1970). Mild thalassemia: the result of interaction of alpha and beta thalassemia genes. Journal ofClinical Investigation, 49, 635-642.","journal-title":"Journal ofClinical Investigation"},{"key":"ref_9","first-page":"22","article-title":"The clinical and biosynthetic characterization of alpha beta thalassaemia","author":"Knox-Macaulay, H.H.; Weatherall, D.J.; Clegg, J.B.; Bradley, J.; Brown, M.J.","year":"1972","unstructured":"Knox-Macaulay, H. H., Weatherall, D. J., Clegg, J. B., Bradley, J., and Brown, M. J. (1972). The clinical and biosynthetic characterization of alpha beta thalassaemia. 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