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Article: Different forms of Hb H disease in the Chinese

TitleDifferent forms of Hb H disease in the Chinese
Authors
Issue Date1988
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03630269.asp
Citation
Hemoglobin, 1988, v. 12 n. 5-6, p. 499-507 How to Cite?
AbstractA marked genetic and clinical variability of the Hb H syndrome occurs because of the molecular heterogeneity of α-thalassemia (thal). The hallmark is the presence of excess β chains forming Hb H (β tetramer). In the Chinese, classical Hb H disease presents as 'α-thalassemia intermedia' and is due to a double heterozygosity for two deletional forms of α-thal, α-thal-1 and α-thal-2. The majority of cases with an α-thal-1 defect have a deletion of at least 18.1 kb starting 3' to the ζ1 gene which includes the ψα and the two α genes; it is similar to that described in Thais. However, two families had a deletion of the entire ζ-α gene cluster, i.e. ζ-α-thal-1. Of 33 α-thal-2 defects studied, 26 were the rightward deletion (α-3.7 kb, all type I defects) and seven the leftward deletion (α-4.2 kb); one of the latter was associated with Hb Q. About 10% of the α-thal defects belong to the nondeletion type, the most common form being Hb Constant Spring (CS). This anomaly, when coinherited with α-thal-1, produces Hb H-CS disease which has a most marked anemia and splenomegaly due to the instability of the α-CS chain. HB Quong Sze produces an α-thal-2 because of the unstable α-Quong Sze chain. One patient who inherited classical Hb H disease and Hb New York (NY) [α113(G15)Val→Glu] had severe anemia, and required frequent blood transfusions due to the deleterious effect of an increased α-NY chain turnover. Unlike usual cases of Hb H disease, two patients with the nondeletional form of Hb H had severe anemia during fetal life resulting in hydropic changes (Hb H Hydrops Fetalis). These cases of severe α-thal pose special problems for prenatal diagnosis.
Persistent Identifierhttp://hdl.handle.net/10722/161754
ISSN
2015 Impact Factor: 0.747
2015 SCImago Journal Rankings: 0.389
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorChan, Ven_US
dc.contributor.authorChan, TKen_US
dc.contributor.authorTodd, Den_US
dc.date.accessioned2012-09-05T05:14:40Z-
dc.date.available2012-09-05T05:14:40Z-
dc.date.issued1988en_US
dc.identifier.citationHemoglobin, 1988, v. 12 n. 5-6, p. 499-507en_US
dc.identifier.issn0363-0269en_US
dc.identifier.urihttp://hdl.handle.net/10722/161754-
dc.description.abstractA marked genetic and clinical variability of the Hb H syndrome occurs because of the molecular heterogeneity of α-thalassemia (thal). The hallmark is the presence of excess β chains forming Hb H (β tetramer). In the Chinese, classical Hb H disease presents as 'α-thalassemia intermedia' and is due to a double heterozygosity for two deletional forms of α-thal, α-thal-1 and α-thal-2. The majority of cases with an α-thal-1 defect have a deletion of at least 18.1 kb starting 3' to the ζ1 gene which includes the ψα and the two α genes; it is similar to that described in Thais. However, two families had a deletion of the entire ζ-α gene cluster, i.e. ζ-α-thal-1. Of 33 α-thal-2 defects studied, 26 were the rightward deletion (α-3.7 kb, all type I defects) and seven the leftward deletion (α-4.2 kb); one of the latter was associated with Hb Q. About 10% of the α-thal defects belong to the nondeletion type, the most common form being Hb Constant Spring (CS). This anomaly, when coinherited with α-thal-1, produces Hb H-CS disease which has a most marked anemia and splenomegaly due to the instability of the α-CS chain. HB Quong Sze produces an α-thal-2 because of the unstable α-Quong Sze chain. One patient who inherited classical Hb H disease and Hb New York (NY) [α113(G15)Val→Glu] had severe anemia, and required frequent blood transfusions due to the deleterious effect of an increased α-NY chain turnover. Unlike usual cases of Hb H disease, two patients with the nondeletional form of Hb H had severe anemia during fetal life resulting in hydropic changes (Hb H Hydrops Fetalis). These cases of severe α-thal pose special problems for prenatal diagnosis.en_US
dc.languageengen_US
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/03630269.aspen_US
dc.relation.ispartofHemoglobinen_US
dc.subject.meshChromosome Deletionen_US
dc.subject.meshFemaleen_US
dc.subject.meshHemoglobins, Abnormal - Isolation & Purificationen_US
dc.subject.meshHong Kongen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPedigreeen_US
dc.subject.meshThalassemia - Geneticsen_US
dc.titleDifferent forms of Hb H disease in the Chineseen_US
dc.typeArticleen_US
dc.identifier.emailChan, V:vnychana@hkucc.hku.hken_US
dc.identifier.authorityChan, V=rp00320en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.3109/03630268808991638-
dc.identifier.pmid3209392-
dc.identifier.scopuseid_2-s2.0-0023806677en_US
dc.identifier.volume12en_US
dc.identifier.issue5-6en_US
dc.identifier.spage499en_US
dc.identifier.epage507en_US
dc.identifier.isiWOS:A1988Q811100007-
dc.publisher.placeUnited Kingdomen_US
dc.identifier.scopusauthoridChan, V=7202654865en_US
dc.identifier.scopusauthoridChan, TK=7402687762en_US
dc.identifier.scopusauthoridTodd, D=7201388182en_US

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