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Article: Genetic and clinical features of hemoglobin H disease in Chinese patients
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TitleGenetic and clinical features of hemoglobin H disease in Chinese patients
 
AuthorsChen, FE1
Ooi, C1
Ha, SY1
Cheung, BMY1
Todd, D1
Liang, R1
Chan, TK1
Chan, V1 1
 
Issue Date2000
 
PublisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
 
CitationNew England Journal Of Medicine, 2000, v. 343 n. 8, p. 544-550 [How to Cite?]
DOI: http://dx.doi.org/10.1056/NEJM200008243430804
 
AbstractBackground. Normally, one pair of each of the two α-globin genes, α1 and α2, resides on each copy of chromosome 16. In hemoglobin H disease, three of these four α-globin genes are affected by a deletion, a mutation, or both. We studied the α-globin gene abnormalities and the clinical and hematologic features of Chinese patients with hemoglobin H disease in Hong Kong. Methods. We assessed the clinical features, hematologic values, serum ferritin levels, and liver function of 114 patients with hemoglobin H disease. We also performed echocardiography and magnetic resonance imaging of the liver and examined the two pairs of α-globin genes. Results. Hemoglobin H disease in 87 of the 114 patients (76 percent) was due to the deletion of three of the four α-globin genes (--/-α), a combination termed the deletional type of hemoglobin H. The remaining 27 patients (24 percent) had the nondeletional type of hemoglobin H disease, in which two α-globin genes are deleted and a third is mutated (--/αα(T)). All 87 patients with the deletional type of hemoglobin H were double heterozygotes in whom there was a deletion of both α-globin genes from one chromosome, plus a deletion of the α1 or α2 gene from the other chromosome (--/α- or --/-α). A variety of mutated α-globin genes was found in the patients with nondeletional type of hemoglobin H disease. Patients with the nondeletional type of the H disease had more symptoms at a younger age, more severe hemolytic anemia, and larger spleens and were more likely to require transfusions than patients with deletional hemoglobin H disease. The severity of iron overload was not related to the genotype. Conclusions. Chinese patients in Hong Kong with the nondeletional type of hemoglobin H disease have more severe disease than those with the deletional type of the disease. Iron overload is a major cause of disability in both forms of the disease. (C) 2000, Massachusetts Medical Society.
 
ISSN0028-4793
2012 Impact Factor: 51.658
2012 SCImago Journal Rankings: 10.160
 
DOIhttp://dx.doi.org/10.1056/NEJM200008243430804
 
ISI Accession Number IDWOS:000088882600004
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorChen, FE
 
dc.contributor.authorOoi, C
 
dc.contributor.authorHa, SY
 
dc.contributor.authorCheung, BMY
 
dc.contributor.authorTodd, D
 
dc.contributor.authorLiang, R
 
dc.contributor.authorChan, TK
 
dc.contributor.authorChan, V
 
dc.date.accessioned2007-01-08T02:30:12Z
 
dc.date.available2007-01-08T02:30:12Z
 
dc.date.issued2000
 
dc.description.abstractBackground. Normally, one pair of each of the two α-globin genes, α1 and α2, resides on each copy of chromosome 16. In hemoglobin H disease, three of these four α-globin genes are affected by a deletion, a mutation, or both. We studied the α-globin gene abnormalities and the clinical and hematologic features of Chinese patients with hemoglobin H disease in Hong Kong. Methods. We assessed the clinical features, hematologic values, serum ferritin levels, and liver function of 114 patients with hemoglobin H disease. We also performed echocardiography and magnetic resonance imaging of the liver and examined the two pairs of α-globin genes. Results. Hemoglobin H disease in 87 of the 114 patients (76 percent) was due to the deletion of three of the four α-globin genes (--/-α), a combination termed the deletional type of hemoglobin H. The remaining 27 patients (24 percent) had the nondeletional type of hemoglobin H disease, in which two α-globin genes are deleted and a third is mutated (--/αα(T)). All 87 patients with the deletional type of hemoglobin H were double heterozygotes in whom there was a deletion of both α-globin genes from one chromosome, plus a deletion of the α1 or α2 gene from the other chromosome (--/α- or --/-α). A variety of mutated α-globin genes was found in the patients with nondeletional type of hemoglobin H disease. Patients with the nondeletional type of the H disease had more symptoms at a younger age, more severe hemolytic anemia, and larger spleens and were more likely to require transfusions than patients with deletional hemoglobin H disease. The severity of iron overload was not related to the genotype. Conclusions. Chinese patients in Hong Kong with the nondeletional type of hemoglobin H disease have more severe disease than those with the deletional type of the disease. Iron overload is a major cause of disability in both forms of the disease. (C) 2000, Massachusetts Medical Society.
 
dc.description.naturepublished_or_final_version
 
dc.format.extent2422 bytes
 
dc.format.extent117559 bytes
 
dc.format.mimetypetext/plain
 
dc.format.mimetypeapplication/pdf
 
dc.identifier.citationNew England Journal Of Medicine, 2000, v. 343 n. 8, p. 544-550 [How to Cite?]
DOI: http://dx.doi.org/10.1056/NEJM200008243430804
 
dc.identifier.doihttp://dx.doi.org/10.1056/NEJM200008243430804
 
dc.identifier.epage550
 
dc.identifier.hkuros53398
 
dc.identifier.isiWOS:000088882600004
 
dc.identifier.issn0028-4793
2012 Impact Factor: 51.658
2012 SCImago Journal Rankings: 10.160
 
dc.identifier.issue8
 
dc.identifier.openurl
 
dc.identifier.pmid10954762
 
dc.identifier.scopuseid_2-s2.0-0034710582
 
dc.identifier.spage544
 
dc.identifier.urihttp://hdl.handle.net/10722/42144
 
dc.identifier.volume343
 
dc.languageeng
 
dc.publisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
 
dc.publisher.placeUnited States
 
dc.relation.ispartofNew England Journal of Medicine
 
dc.relation.referencesReferences in Scopus
 
dc.rightsNew England Journal of Medicine. Copyright © Massachusetts Medical Society.
 
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License
 
dc.subject.meshFerritins - blood
 
dc.subject.meshGene Deletion
 
dc.subject.meshGenotype
 
dc.subject.meshLiver - pathology
 
dc.subject.meshalpha-Thalassemia - blood - classification - genetics - physiopathology
 
dc.titleGenetic and clinical features of hemoglobin H disease in Chinese patients
 
dc.typeArticle
 
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<contributor.author>Todd, D</contributor.author>
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<contributor.author>Chan, V</contributor.author>
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Author Affiliations
  1. The University of Hong Kong