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Hb Q‐Thailand‐Hb H disease in a chinese living in Geneva, Switzerland: Characterization of the variant and identification of the two α‐thalassemic chromosomes
Author(s) -
Beris P.,
Huber P.,
Miescher P. A.,
Wilson J. B.,
Kutlar A.,
Chen S. S.,
Huisman T. H. J.
Publication year - 1987
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830240409
Subject(s) - thalassemia , alpha (finance) , hemoglobinopathy , gene , genetics , hemoglobin , alpha thalassemia , hemoglobin variants , biology , globin , alpha globulin , microbiology and biotechnology , hemolytic anemia , medicine , immunology , genotype , biochemistry , construct validity , nursing , patient satisfaction
Abstract Data on a 24‐year‐old Chinese male with Hb Q‐Thailand‐Hb H disease are presented. The hemoglobin variant was characterized by fast microprocedures, mainly by reverse‐phase high‐performance liquid chromatography. Gene mapping analyses identified the α‐thalassemia‐2, which is associated with the α‐Q chain, as caused by a 4.2‐kb deletion involving the α2 globin gene, while the α‐thalassemia‐1 anomaly was the common Southeast Asian type in which part of the Ψζ, the Ψα, and the α2 and α1 globin genes are deleted.