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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
 
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
2013 Impact Factor: 54.420
 
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
2013 Impact Factor: 54.420
 
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>Liang, R</contributor.author>
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<contributor.author>Chan, V</contributor.author>
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Author Affiliations
  1. The University of Hong Kong