Hb Paksé [(alpha2) codon 142 (TAA-->TAT or Term-->Tyr)J in Thai patients with EAbart's disease and Hb H Disease.
Hb Paksé is caused by an alpha2-globin gene termination codon mutation, TAA-->TAT or Term-->Tyr, initially described in a Laotian family. We now report for the first time that the same mutation has been found in 14 Thai patients, seven with EABart's disease, four with Hb H disease, and three with alpha-thalassemia trait who were initially diagnosed as having Hb Constant Spring (Hb CS; alpha2-globin gene termination codon mutation TAA-->CAA or Term-->Gln). Co-inheritance of this mutation with alpha-thalassemia-1 (SEA type) leads to Hb H disease (hereafter designated as Hb H-Paksé disease) and to a complex thalassemia syndrome, namely EABart's-Paksé disease. Hematological data of these patients were compared with those of classical Hb H-CS and the EABart's patients. To facilitate epidemiological and diagnostic screening of Hb Paksé, a simple assay procedure based on allele specific polymerase chain reaction (PCR) amplifications was developed and validated. Using this allele specific PCR as a screening method, five additional individuals with Hb Paksé were found among 71 Thai subjects previously thought to have Hb CS.
Sanchaisuriya
Kanokwan
K
Department of Clinical Microscopy, Faculty of Associated Medical Sciences, Khon Kaen University, Thailand.
Fucharoen
Goonnapa
G
Fucharoen
Supan
S
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008403:Mass Screening / Q000379:methods; D016133:Polymerase Chain Reaction; D013785:Thailand / Q000453:epidemiology; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics
D006455:Hemoglobins, Abnormal; C099132:hemoglobin Pakse; C030448:hemoglobin Bart's