The associations of SEA-alpha thalassemia 1, XmnI-Ggamma polymorphism and beta-globin gene mutations with the clinical severity of beta-thalassemia syndrome in northern Thailand.

Background: At least three genetic factors including beta-thalassemia mutations, alpha-thalassemia, and XmnI-Ggamma polymorphism were shown to modify clinical symptoms in beta-thalassemia disease.

Objective: To determine associations of beta-thalassemia mutations, SEA-alpha thalassemia 1, and XmnI-Ggamma polymorphism, and clinical severity of beta-thalassemia in northern Thailand.

Material And Method: Thirty-two beta-thalassemia major and 28 beta-thalassemia intermedia attending the Thalassemia Clinic at Maharaj Nakorn Chiang Mai Hospital, Chiang Mai, Thailand were recruited The beta-globin gene mutations and SEA-alpha thalassemia 1 were determined by MS-PCR and Gap-PCR, respectively.

Sensitivity and specificity of mean corpuscular volume testing for screening for alpha-thalassemia-1 and beta-thalassemia traits.

Aim: To evaluate the sensitivity, specificity, positive predictive value and negative predictive value of mean corpuscular volume (MCV) testing for screening for both alpha-thalassemia-1 and beta-thalassemia traits.

Methods: A diagnostic test was conducted on 439 pregnant women attending the antenatal care (ANC) clinic at Maharaj Nakorn Chiang Mai Hospital between April 2002 and July 2002. Blood samples were collected from the pregnant women after they were counseled and gave informed consent.