{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:40:03Z","timestamp":1760769603176,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,6]]},"abstract":"<jats:p>Analysis of haemoglobin chain synthesis was performed in 15 Apulian patients with Hb H disease and in their patients and offspring. The Apulian carriers of Hb H disease show a marked imbalance of alpha and beta chain synthesis (0.39 +\/- 0.1) with variable clinical and haematological manifestations. However, we are dealing with an intermediate form similar to that described in Italians from other regions. A significant difference was found between the mean alpha\/beta ratio values (0.81 +\/- 0.13) of parents and offspring of Hb H patients and those of the normal controls (1.05 +\/- 0.09); however, extensive overlapping between these two groups exists. These results have led us to the conclusion that the forms of alpha-thalassaemia found in Apulia are similar to the alpha defects observed in Sicily; in both cases, in fact, haemoglobin chain synthesis was an unreliable test for discriminating between alpha-thalassaemia-1 trait and alpha-thalassaemia-2 trait.<\/jats:p>","DOI":"10.1136\/jmg.20.3.206","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"206-209","source":"Crossref","is-referenced-by-count":0,"title":["alpha-Thalassaemia in Apulia: biosynthetic studies."],"prefix":"10.1136","volume":"20","author":[{"given":"G","family":"Guanti","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Lonoce","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Pietrapertosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Polimeno","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Tannoia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,6,1]]},"reference":[{"issue":"4","key":"ref_1","first-page":"748","article-title":"Differences between a and 3 chain variants of human haemoglobin and between a and 3-thalassaemia. 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