{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:01:22Z","timestamp":1761058882715,"version":"build-2065373602"},"reference-count":12,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1980,6]]},"abstract":"<jats:p>In the south-east of Sicily 23 children from 14 unrelated families have been diagnosed as suffering from haemoglobin Lepore. Such a high incidence shows that Sicily is an important focus of haemoglobin Lepore. The results of haematological and biosynthetic studies in 18 carriers of Hb Lepore and in five double heterozygotes for Hb Lepore and beta-thalassaemia are presented. In the carriers the haematological and biosynthetic data are compared with carriers of beta-thalassaemia, while the five double heterozygotes are compared with beta o- and beta +-thalassaemia major subjects. In the carriers of Hb Lepore no synthesis of delta beta-chains was observed in peripheral blood cells; in fact we found a peak in the bone marrow. Double heterozygotes with circulating nucleated red cells showed delta beta-chain synthesis in peripheral blood.<\/jats:p>","DOI":"10.1136\/jmg.17.3.179","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"179-182","source":"Crossref","is-referenced-by-count":7,"title":["Haemoglobin Lepore Boston-Washington in Sicily: clinical, haematological, and biosynthetic studies."],"prefix":"10.1136","volume":"17","author":[{"given":"G","family":"Schiliro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S","family":"Musumeci","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":"M A","family":"Romero","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":[[1980,6,1]]},"reference":[{"key":"ref_1","first-page":"193","article-title":"Russo G.,-thalassemia in Sicily. Hematological and biosynthetic studies","volume":"60","author":"Schilirb, G.; Musumeci, S.; Pizzarelli, G.; Di Gregorio, L.; Fischer, A.","year":"1978","unstructured":"Schilirb G, Musumeci S, Pizzarelli G, Di Gregorio L, Fischer A, Russo G.,-thalassemia in Sicily. Hematological and biosynthetic studies. Acta Haematol 1978; 60:193-200.","journal-title":"Acta Haematol"},{"key":"ref_2","first-page":"208","article-title":"Synthesis of haemoglobin Lepore","volume":"235","author":"White, J.M.; Lang, A.; Lorkin, P.A.; Lehmann, H.","year":"1972","unstructured":"White JM, Lang A, Lorkin PA, Lehmann H. Synthesis of haemoglobin Lepore. Nature 1972;235:208-9.","journal-title":"Nature"},{"key":"ref_3","first-page":"268","article-title":"Synthesis of Hb Lepore synthesis in the same cells","volume":"240","author":"Lang, A.; White, J.M.; Lehmann, H.","year":"1972","unstructured":"Lang A, White JM, Lehmann H. Synthesis of Hb Lepore synthesis in the same cells. (X2 8P2): influence of 8 and 3 nucleotide sequence on synthesis of8B chain. Nature 1972;240:268-70. We are grateful to Drs R Curreri and R Testa for","journal-title":"Nature; and 3 nucleotide sequence on synthesis of8B chain"},{"key":"ref_4","first-page":"133","article-title":"Time for a reappraisal ?","volume":"1","year":"1974","unstructured":"Clegg JB, Weatherall DJ.,3-thalassaemia. Time for a reappraisal ? Lancet 1974;1:133. References","journal-title":"Lancet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"197","DOI":"10.3109\/03630267809007068","article-title":"Hemoglobins Lepore and anti-Lepore","volume":"2","author":"Efremov, G.D.","year":"1978","unstructured":"Efremov GD. Hemoglobins Lepore and anti-Lepore. Hemoglobin 1978;2:197-233.","journal-title":"Hemoglobin"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1111\/j.1749-6632.1974.tb20573.x","article-title":"Hemoglobin Lepore: its significance for thalassemia and clinical manifestations","volume":"232","author":"Quattrin, N.; Ventruto, V.","year":"1974","unstructured":"Quattrin N, Ventruto V. Hemoglobin Lepore: its significance for thalassemia and clinical manifestations. Ann N YAcad Sci 1974;232:65-75.","journal-title":"Ann N YAcad Sci"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1159\/000207659","article-title":"Synthesis of alpha, beta and gamma chains by reticulocytes from brothers homozygous for haemoglobin Lepore","volume":"61","author":"Luppis, B.; Vetruto, V.","year":"1979","unstructured":"Luppis B, Vetruto V. Synthesis of alpha, beta and gamma chains by reticulocytes from brothers homozygous for haemoglobin Lepore. Acta Haematol 1979;61:216-21.","journal-title":"Acta Haematol"},{"key":"ref_8","first-page":"\"850","article-title":"Hemoglobin Kenia, the product of a fusion of 'y and, polypeptide chains. Arch Biochem tributo allo studio delle emoglobine Lepore","volume":"153","author":"Huisman, T.H.J.; Wrightstone, R.N.; Wilson, J.B.; Schroeder, W.A.; Kendall, A.G.","year":"1972","unstructured":"Huisman THJ, Wrightstone RN, Wilson JB, Schroeder WA, Kendall AG. Hemoglobin Kenia, the product of a fusion of 'y and, polypeptide chains. Arch Biochem tributo allo studio delle emoglobine Lepore. Pediatria Biophys 1972;153:850-5. (Napoli) 1974;82:65-77.","journal-title":"Pediatria Biophys"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"\"1877","DOI":"10.1038\/1841877a0","article-title":"Foetal estimation of small percentages of haemoglobin","volume":"184","author":"Betke, K.; Martin, H.R.; Schlicht, I.","year":"1959","unstructured":"Betke K, Martin HR, Schlicht I. Foetal estimation of small percentages of haemoglobin. Nature 1959;184: 1877-8. 1973;246:184-6.","journal-title":"Nature"},{"key":"ref_10","first-page":"299","article-title":"Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography and the thalassemia","volume":"14","author":"Clegg, J.B.; Naughton, M.A.; Weatherall, D.J.","year":"1978","unstructured":"Clegg JB, Naughton MA, Weatherall DJ. Abnormal human haemoglobins. Separation and characterization of the alpha and beta chains by chromatography and the thalassemia. Cell 1978;14:299-312.","journal-title":"Cell"},{"key":"ref_11","first-page":"73642","article-title":"Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore","volume":"63","author":"Ramirez, F.; Mears, J.G.; Nudel, V.; Bank, A.; Luzzatto, L.; Di Prisco, G.; D'Avino, R.; Pepe, G.; Camarbella, L.; Gambino, R.; Cimino, R.; Quattrin, N.","year":"1979","unstructured":"Ramirez F, Mears JG, Nudel V, Bank A, Luzzatto L, Di Prisco G, D'Avino R, Pepe G, Camarbella L, Gambino R, Cimino R, Quattrin N. Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore. J Clin Invest 1979;63:73642.","journal-title":"J Clin Invest"},{"key":"ref_12","article-title":"Man's haemoglobins. Requests for reprints to","volume-title":"Dr G Schiliro, Department","author":"Lehmann, H.; Huntsman, R.G.","year":"1966","unstructured":"Lehmann H, Huntsman RG. Man's haemoglobins. Requests for reprints to Dr G Schiliro, Department Amsterdam: North Holland, 1966."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.17.3.179","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T04:43:13Z","timestamp":1760762593000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.17.3.179"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1980,6]]},"references-count":12,"journal-issue":{"issue":"3","published-online":{"date-parts":[[1980,6,1]]},"published-print":{"date-parts":[[1980,6]]}},"alternative-id":["10.1136\/jmg.17.3.179"],"URL":"https:\/\/doi.org\/10.1136\/jmg.17.3.179","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1980,6]]}}}