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Article: Hemoglobin H disease: Not necessarily a benign disorder

TitleHemoglobin H disease: Not necessarily a benign disorder
Authors
Issue Date2003
PublisherAmerican Society of Hematology. The Journal's web site is located at http://bloodjournal.hematologylibrary.org/
Citation
Blood, 2003, v. 101 n. 3, p. 791-800 How to Cite?
AbstractHb H disease is a form of α-thalassemia often manifested clinically as thalassemia intermedia with moderate anemia. It is commonly found in Southeast Asian, Middle Eastern, and Mediterranean populations. There is a wide spectrum of genotypes and phenotypic presentations. These range from those who appear clinically to be asymptomatic, to others who are more anemic, having significant hepatosplenomegaly and requiring occasional or even regular transfusions, to the severe Hb H hydrops fetalis syndrome that can cause death in the affected fetuses late in gestation. This hereditary disorder is usually caused by deletions removing all but one single α-globin gene (deletional Hb H disease). A small proportion of patients have deletions removing 2 α-globin genes plus a nondeletional mutation affecting a third α-globin gene (nondeletional Hb H disease). In general, nondeletional Hb H disease has a more severe clinical course than the deletional form. Review of recent literature suggests that Hb H disease is not as benign a disorder as previously thought. It can bring about growth retardation during childhood and iron overload in adults regardless of previous transfusion history, leading to hepatic, cardiac, and endocrine dysfunction. Significant anemia might occur during infections, fever, hypersplenism, or pregnancy that may necessitate the need for blood transfusions. An essential part of the maternal/child health care should include screening the partners of all pregnant women with Hb H disease for their thalassemia carrier status, and providing these and other couples who are at risk of conceiving offspring with Hb H disease with appropriate genetic counseling. Prospective and systematic studies of the natural history of Hb H disease, particularly during infancy and childhood, as well as during pregnancy, have not been carried out and are much needed. Information derived from these investigations can lead to better insight to potential risk factors associated with severe disease and can help to formulate future medical interventions and treatment strategies.
Persistent Identifierhttp://hdl.handle.net/10722/77061
ISSN
2015 Impact Factor: 11.841
2015 SCImago Journal Rankings: 6.395
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorChui, DHKen_HK
dc.contributor.authorFucharoen, Sen_HK
dc.contributor.authorChan, Ven_HK
dc.date.accessioned2010-09-06T07:27:51Z-
dc.date.available2010-09-06T07:27:51Z-
dc.date.issued2003en_HK
dc.identifier.citationBlood, 2003, v. 101 n. 3, p. 791-800en_HK
dc.identifier.issn0006-4971en_HK
dc.identifier.urihttp://hdl.handle.net/10722/77061-
dc.description.abstractHb H disease is a form of α-thalassemia often manifested clinically as thalassemia intermedia with moderate anemia. It is commonly found in Southeast Asian, Middle Eastern, and Mediterranean populations. There is a wide spectrum of genotypes and phenotypic presentations. These range from those who appear clinically to be asymptomatic, to others who are more anemic, having significant hepatosplenomegaly and requiring occasional or even regular transfusions, to the severe Hb H hydrops fetalis syndrome that can cause death in the affected fetuses late in gestation. This hereditary disorder is usually caused by deletions removing all but one single α-globin gene (deletional Hb H disease). A small proportion of patients have deletions removing 2 α-globin genes plus a nondeletional mutation affecting a third α-globin gene (nondeletional Hb H disease). In general, nondeletional Hb H disease has a more severe clinical course than the deletional form. Review of recent literature suggests that Hb H disease is not as benign a disorder as previously thought. It can bring about growth retardation during childhood and iron overload in adults regardless of previous transfusion history, leading to hepatic, cardiac, and endocrine dysfunction. Significant anemia might occur during infections, fever, hypersplenism, or pregnancy that may necessitate the need for blood transfusions. An essential part of the maternal/child health care should include screening the partners of all pregnant women with Hb H disease for their thalassemia carrier status, and providing these and other couples who are at risk of conceiving offspring with Hb H disease with appropriate genetic counseling. Prospective and systematic studies of the natural history of Hb H disease, particularly during infancy and childhood, as well as during pregnancy, have not been carried out and are much needed. Information derived from these investigations can lead to better insight to potential risk factors associated with severe disease and can help to formulate future medical interventions and treatment strategies.en_HK
dc.languageengen_HK
dc.publisherAmerican Society of Hematology. The Journal's web site is located at http://bloodjournal.hematologylibrary.org/en_HK
dc.relation.ispartofBlooden_HK
dc.subject.meshComorbidityen_HK
dc.subject.meshFemaleen_HK
dc.subject.meshGenetic Counselingen_HK
dc.subject.meshGenetics, Populationen_HK
dc.subject.meshHumansen_HK
dc.subject.meshMaleen_HK
dc.subject.meshMutationen_HK
dc.subject.meshPregnancyen_HK
dc.subject.meshalpha-Thalassemia - complications - genetics - pathologyen_HK
dc.titleHemoglobin H disease: Not necessarily a benign disorderen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0006-4971&volume=101&spage=791&epage=800&date=2003&atitle=Hemoglobin+H+Disease:+Not+Necessarily+a+Benign+Disorder.+en_HK
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_HK
dc.identifier.authorityChan, V=rp00320en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1182/blood-2002-07-1975en_HK
dc.identifier.pmid12393486-
dc.identifier.scopuseid_2-s2.0-0037305250en_HK
dc.identifier.hkuros80510en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0037305250&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume101en_HK
dc.identifier.issue3en_HK
dc.identifier.spage791en_HK
dc.identifier.epage800en_HK
dc.identifier.isiWOS:000180679700001-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridChui, DHK=7005111153en_HK
dc.identifier.scopusauthoridFucharoen, S=7103089590en_HK
dc.identifier.scopusauthoridChan, V=7202654865en_HK

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