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.

[alpha-thalassemia]

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 .To determine associations of beta-thalassemia mutations , SEA-alpha thalassemia 1 , and XmnI-Ggamma polymorphism , and clinical severity of beta-thalassemia in northern Thailand .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 . The XmnI-Ggamma polymorphism was identified by RFLP analysis . Odds ratio was calculated to evaluate the associations of these three genetic factors and clinical symptoms .Eight beta -globin gene mutations (both beta 0 and beta +) were found Twenty -nine point one percent of the patients had at least one XmnI-Ggamma site (XmnI-Ggamma : +) and 4 .1 % of the patients were heterozygote for the SEA-alpha thalassemia 1 . The beta -globin gene mutations showed maximal impact and the XmnI-Ggamma polymorphism had minimal influence on clinical severity in this cohort . The SEA-alpha thalassemia 1 had the least effect on the clinical severity due to its low prevalence in these patients .Although these three genetic factors play roles in modifying clinical symptoms of beta-thalassemia , the beta-thalassemia mutations should be considered first , followed respectively by the XmnI-Ggamma polymorphism and the SEA-alpha thalassemia 1 , in management and prenatal diagnosis of beta-thalassemia in northern Thailand .

Diseases
Validation

Diseases presenting "sea-alpha thalassemia 1 were determined by ms-pcr and gap-pcr" symptom

alpha-thalassemia

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