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Beta-thalassemia is one of the most prevalent inherited diseases and a public health problem in Malaysia. Malaysia is geographically divided into West and East Malaysia. In Sabah, a state in East Malaysia, there are over 1000 estimated cases of β-thalassemia major patients. Accurate population frequency data of the molecular basis of β-thalassemia major are needed for planning its control in the high-risk population of Sabah. Characterization of β-globin gene defects was done in 252 transfusion dependent β-thalassemia patients incorporating few PCR techniques. The study demonstrates that β-thalassemia mutations inherited are ethnically dependent. It is important to note that 86.9% of transfusion-dependent β-thalassemia major patients in Sabah were of the indigenous population and homozygous for a single mutation. The Filipino β0-deletion was a unique mutation found in the indigenous population of Sabah. Mutations common in West Malaysia were found in 11 (4.3%) patients. Four rare mutations (Hb Monroe, CD 8/9, CD 123/124/125 and IVS I-2) were also found. This study is informative on the population genetics of β-thalassemia major in Sabah. [ABSTRACT FROM AUTHOR]

Patients with globus pharyngeus referred for barium swallow pharyngoesophagography in a local hospital from 1/7/1999 to 30/6/2009 were identified. Their fluoroscopic images were reviewed, and their outcomes were used as gold standard. A total of 908 patients with globus pharyngeus were referred for barium swallow in the period. There were 783 patients with normal barium swallow and 125 patients with abnormal barium swallow findings. All patients aged below 30 years had normal barium swallow result and unremarkable follow up. The sensitivity and specificity of barium swallow were 25.6 and 97.5% respectively; and the positive predictive value and negative predictive value were 61.5 and 89.1% respectively. The overall accuracy was 87.6%. Barium swallow is of limited diagnostic value in patients with typical globus pharyngeus, and it is not recommended in these patients, especially with young age. [ABSTRACT FROM AUTHOR]