HB Q-Thailand-HB H disease in a Chinese living in Geneva, Switzerland: characterization of the variant and identification of the two alpha-thalassemic chromosomes.
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 alpha-thalassemia-2, which is associated with the alpha-Q chain, as caused by a 4.2-kb deletion involving the alpha 2 globin gene, while the alpha-thalassemia-1 anomaly was the common Southeast Asian type in which part of the psi zeta, the psi alpha, and the alpha 2 and alpha 1 globin genes are deleted.
D000328:Adult; D000596:Amino Acids / Q000032:analysis; D001854:Bone Marrow Cells; D002681:China / Q000208:ethnology; D002851:Chromatography, High Pressure Liquid; D002869:Chromosome Aberrations / Q000097:blood*; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D014644:Genetic Variation; D006454:Hemoglobins / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D013557:Switzerland; D013789:Thalassemia / Q000097:blood* / Q000235:genetics
D000596:Amino Acids; D006454:Hemoglobins; D006455:Hemoglobins, Abnormal; C049214:hemoglobin Q Thailand