{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,13]],"date-time":"2026-02-13T21:18:00Z","timestamp":1771017480943,"version":"3.50.1"},"reference-count":27,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1983,12]]},"abstract":"<jats:p>In this study we used restriction endonuclease mapping to characterise the molecular defect responsible for haemoglobin H disease in 14 Sardinian children. The resulting genotypes were then correlated with the respective clinical and haematological phenotypes. We found that patients with the combination of non-deletion alpha(+)-thalassaemia [(alpha alpha)th] and deletion alpha(0)-thalassaemia (-Med) have a more severe phenotype than that resulting from the interaction of deletion alpha(0)-thalassaemia (-Med) and alpha(+)-thalassaemia (-alpha) determinants. Clinically, presentation was earlier and with moderate anaemia or haemolytic crisis, enlargement of the liver and spleen, and thalassaemic bone changes. Haematologically, the anaemia was more severe and there were higher bilirubin levels, reticulocyte counts, Hb H levels, and percentage of red blood cells with inclusion bodies. These results suggest that in those Hb H disease patients with the non-deletion [(alpha alpha)th] determinant, two alpha globin genes produce fewer alpha globin chains than a single alpha globin locus.<\/jats:p>","DOI":"10.1136\/jmg.20.6.425","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T14:52:06Z","timestamp":1226328726000},"page":"425-429","source":"Crossref","is-referenced-by-count":29,"title":["Phenotype-genotype correlation in haemoglobin H disease in childhood."],"prefix":"10.1136","volume":"20","author":[{"given":"R","family":"Galanello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Pirastu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M A","family":"Melis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Paglietti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Moi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1983,12,1]]},"reference":[{"key":"ref_1","first-page":"119","article-title":"One puzzling feature, however, of the effects of the non-deletion defect is the consistently higher Lauer","volume":"20","author":"J, Shen C.J.; T, Maniatis","year":"1980","unstructured":"One puzzling feature, however, of the effects of the non-deletion defect is the consistently higher Lauer J, Shen CJ, Maniatis T. The chromosomal arrangement of human m-like globin genes: sequence homology Hb H levels in spite of a similar imbalance of globin chain synthesis as compared to the deletion lesion. However, as clearly stated by Weatherall and Clegg,3 there appears to be as yet undefined factors, and oc-globin gene deletions. Cell 1980;20:119-30.","journal-title":"Cell; The chromosomal arrangement of human m-like globin genes: sequence homology Hb H levels in spite of a similar imbalance of globin chain synthesis as compared to the deletion lesion. However, as clearly stated by Weatherall and Clegg,3 there appears to be as yet undefined factors, and oc-globin gene deletions"},{"key":"ref_2","first-page":"381","article-title":"The structure and transcription of normal and abnormal human globin genes","volume":"5","author":"Proudfoot, N.; Shander, M.; V, Woude S.; Maniatis, T.","year":"1981","unstructured":"Proudfoot N, Shander M, Woude S V, Maniatis T. The structure and transcription of normal and abnormal human globin genes. J Supramol Struct Cell Biochem 1981;5:381. other than the degree of globin chain imbalance, which determine the final level of Hb H in peripheral blood. Despite a similar degree of globin chain","journal-title":"J Supramol Struct Cell Biochem; other than the degree of globin chain imbalance, which determine the final level of Hb H in peripheral blood. Despite a similar degree of globin chain"},{"key":"ref_3","article-title":"The thalassaemia syndromes","author":"Weatherall, D.J.; Clegg, J.B.","year":"1981","unstructured":"Weatherall DJ, Clegg JB. The thalassaemia syndromes. 3rd ed. Oxford: Blackwell Scientific Publications, 1981.","edition":"3rd ed"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1434","DOI":"10.1182\/blood.V54.6.1434.1434","article-title":"Molecular basis of hemoglobin H disease in the Mediterimbalance, in fact, in a large series of patients, the ranean population","volume":"54","author":"Kan, Y.W.; Dozy, A.M.; Stamatoyannopoulos, G.","year":"1979","unstructured":"Kan YW, Dozy AM, Stamatoyannopoulos G, et al. Molecular basis of hemoglobin H disease in the Mediterimbalance, in fact, in a large series of patients, the ranean population. Blood 1979;54:1434-8.","journal-title":"Blood"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1307","DOI":"10.1172\/JCI109426","article-title":"Organization of the cx-globin genes in the Chinese oa-thalassemia syndromes","volume":"63","author":"Embury, S.H.; Lebo, R.V.; Dozy, A.M.; Kan, Y.W.","year":"1979","unstructured":"Embury SH, Lebo RV, Dozy AM, Kan YW. 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