Application of An Allele Specific-PCR Technique in The Epidemiological Study of Hb Pakse’ at Nakhon Si Thammarat, Thailand

บทคัดย่อ

Abstract :

Hb Pakse’ is caused by an α2-globin gene termination codon mutation, TAA --> TAT or
Term  --> Try leading to the elongated production of an α-globin chain known as Hb Pakse’ quite similar
 to hemoglobin Constant Spring (TAA --> CAA or Term --> Gln). This mutation represents the form
of n ondeletional α-thalassemia2 . C o-inheritanceo ft hism utationw ith α -thalassemia1 l eadst oH b
H disease. In general, its clinical course more severe than the deletion form which is caused by a
deletional α-thalassemia 2 with α-thalassemia 1. Recently, it has been found in Laos, Thai and
Cambodia  using an Allele Specific-PCR technique but their epidemiological data has not been performed
 in Thailand. In this study, we screened Hb Pakse’ in 448 unrelated Thai pregnant woman who
were  resided in Nakhon Si Thammarat Province. Allele Specific-PCR technique was used for the
study. It was found that there were 2 (0.4%) Hb Pakse’ carriers with normal Hb type (A2A). Their
hematological  data were not changed as compared with those of normal subjects. This is the first report
 showing that Hb Pakse’ was found among populations in the south of Thailand, indicating the
necessity for implementation of a prevention and control program of thalassemia in this region. In
addition, only these hematologic findings are notenough for the diagnosis, therefore, a PCR technique
should  be also used.