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Article: Genetic and clinical features of hemoglobin H disease in Chinese patients

TitleGenetic and clinical features of hemoglobin H disease in Chinese patients
Authors
Issue Date2000
PublisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/
Citation
New England Journal Of Medicine, 2000, v. 343 n. 8, p. 544-550 How to Cite?
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.
Persistent Identifierhttp://hdl.handle.net/10722/42144
ISSN
2015 Impact Factor: 59.558
2015 SCImago Journal Rankings: 14.619
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChen, FEen_HK
dc.contributor.authorOoi, Cen_HK
dc.contributor.authorHa, SYen_HK
dc.contributor.authorCheung, BMYen_HK
dc.contributor.authorTodd, Den_HK
dc.contributor.authorLiang, Ren_HK
dc.contributor.authorChan, TKen_HK
dc.contributor.authorChan, Ven_HK
dc.date.accessioned2007-01-08T02:30:12Z-
dc.date.available2007-01-08T02:30:12Z-
dc.date.issued2000en_HK
dc.identifier.citationNew England Journal Of Medicine, 2000, v. 343 n. 8, p. 544-550en_HK
dc.identifier.issn0028-4793en_HK
dc.identifier.urihttp://hdl.handle.net/10722/42144-
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.en_HK
dc.format.extent2422 bytes-
dc.format.extent117559 bytes-
dc.format.mimetypetext/plain-
dc.format.mimetypeapplication/pdf-
dc.languageengen_HK
dc.publisherMassachusetts Medical Society. The Journal's web site is located at http://content.nejm.org/en_HK
dc.relation.ispartofNew England Journal of Medicineen_HK
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.rightsNew England Journal of Medicine. Copyright © Massachusetts Medical Society.en_HK
dc.subject.meshFerritins - blooden_HK
dc.subject.meshGene Deletionen_HK
dc.subject.meshGenotypeen_HK
dc.subject.meshLiver - pathologyen_HK
dc.subject.meshalpha-Thalassemia - blood - classification - genetics - physiopathologyen_HK
dc.titleGenetic and clinical features of hemoglobin H disease in Chinese patientsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0028-4793&volume=343&issue=8&spage=544&epage=550&date=2000&atitle=Genetic+and+clinical+features+of+hemoglobin+H+disease+in+Chinese+patientsen_HK
dc.identifier.emailCheung, BMY:mycheung@hku.hken_HK
dc.identifier.emailLiang, R:rliang@hku.hken_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.authorityCheung, BMY=rp01321en_HK
dc.identifier.authorityLiang, R=rp00345en_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturepublished_or_final_versionen_HK
dc.identifier.doi10.1056/NEJM200008243430804en_HK
dc.identifier.pmid10954762-
dc.identifier.scopuseid_2-s2.0-0034710582en_HK
dc.identifier.hkuros53398-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0034710582&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume343en_HK
dc.identifier.issue8en_HK
dc.identifier.spage544en_HK
dc.identifier.epage550en_HK
dc.identifier.isiWOS:000088882600004-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChen, FE=17934080100en_HK
dc.identifier.scopusauthoridOoi, C=7007084909en_HK
dc.identifier.scopusauthoridHa, SY=55167597700en_HK
dc.identifier.scopusauthoridCheung, BMY=7103294806en_HK
dc.identifier.scopusauthoridTodd, D=7201388182en_HK
dc.identifier.scopusauthoridLiang, R=26643224900en_HK
dc.identifier.scopusauthoridChan, TK=7402687762en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK

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