{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T04:50:18Z","timestamp":1764996618613},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2001,7,30]],"date-time":"2001-07-30T00:00:00Z","timestamp":996451200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2001,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Over the past decade, we have characterized at the DNA level a total of 116 hemoglobin H (Hb H) disease patients living in Canada. The majority of patients were of southeast Asian descent (Chinese, Filipino, Laotian, Vietnamese), with a small number being of Mediterranean, Middle Eastern or East Indian background. A total of 15 distinct genotypes were detected, all but one being compound heterozygotes for a two\u2010gene cis deletion and a single\u2010gene deletion (\u2010\u03b1\/\u2212) or a non\u2010deletion mutation of the \u03b12\u2010globin gene (\u03b1<jats:sup>T<\/jats:sup> \u03b1\/\u2212). Seven different two\u2010gene cis deletions were encountered, along with nine single\u2010gene deletions and point mutations. The wide range of mutations associated with Hb H disease in Canada is a reflection of the population heterogeneity. The diagnosis of Hb H disease at the molecular level is important with respect to genetic counseling and the identification of families at risk for having pregnancies affected with Hb Bart's hydrops fetalis syndrome and\/or Hb H disease. Six of the Hb H disease patients in our cohort had spouses who carried single\u2010gene deletions, making these couples at risk for having children with Hb H disease. More important, seven patients had partners who carried two\u2010gene cis deletions. These couples are at reproductive risk for both Hb Bart's hydrops fetalis syndrome and Hb H disease. Am. J. Hematol. 68:11\u201315, 2001. \u00a9 2001 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.1142","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T19:58:07Z","timestamp":1030305487000},"page":"11-15","source":"Crossref","is-referenced-by-count":23,"title":["Hemoglobin H (Hb H) disease in Canada: Molecular diagnosis and review of 116 cases"],"prefix":"10.1002","volume":"68","author":[{"given":"John S.","family":"Waye","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barry","family":"Eng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Patterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynda","family":"Walker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel D.","family":"Carcao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy F.","family":"Olivieri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.K.","family":"Chui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2001,7,30]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"crossref","first-page":"1081","DOI":"10.1182\/blood.V73.5.1081.1081","article-title":"A review of the molecular genetics of the human \u03b1\u2010globin gene cluster","volume":"73","author":"Higgs DR","year":"1989","journal-title":"Blood"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630268908998845"},{"key":"e_1_2_1_4_2","unstructured":"HuismanTHJ CarverMFH BaysalE.A Syllabus of Thalassemia Mutations (1997). 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