Molecular characterization of mutations causing β -thalassemia in Faisalabad Pakistan using the amplification refractory mutation system (ARMS-PCR).

BACKGROUND : Faisalabad is the third biggest city of Pakistan. Majority of the population is Punjabi while other ethnic groups are in minority. AIMS : The present study was undertaken to find the mutations causing β -thalassemia in Faisalabad Pakistan. MATERIALS AND METHODS : A total of 285 β -globin alleles from 143 unrelated families having at least one transfusion-dependent child were analyzed by using amplification refractory mutation system (ARMS-PCR). RESULTS : FSC-8/9 (+G) and IVS-I-5 (G ®C) were the most common mutations. The allele frequency for FSC-8/9 (+G) was 38.59% while frequency for IVS-I-5 (G ®C) was 37.89%. The high frequency (76.48%) of IVS-I-5 (G ®C) and FSC-8/9 (+G) on various alleles provides a strong evidence of intermarriages. CONCLUSIONS : By using ARMS-PCR, the mutations were successfully characterized in 95.79% of subjects, while 4.21% remain to be characterized. This study will facilitate the implementations of genetic counseling and prenatal diagnosis in the population of Faisalabad.

Presence of suicidality as a prognostic indicator.

BACKGROUND: Suicidal symptoms in depression are often thought to predict a higher severity of illness and a worse prognosis. AIMS: To determine if suicidal ideation at the time of treatment for major depression can predict response to antidepressant medication in primary care. SETTINGS AND DESIGN: A retrospective analysis of subjects receiving anti-depressant drugs in a primary care setting METHODS AND MATERIAL: Nine depressed patients (14%) who acknowledged suicidality on the PHQ-9 depression scale were followed up for and compared to a group of 54 (86%) depressed patients (controls) who did not have suicidal thoughts for four months. All were given treatment with antidepressants and followed with a disease management protocol where the PHQ-9 was used as a systematic outcome measure. STATISTICAL ANALYSIS: Descriptive measures and t-tests were utilized to show statistical significance. RESULTS: There were no statistical differences in remission from depressive symptoms based on the PHQ-9 scale after antidepressant treatment, between patients with suicidal thoughts (56%) and those without (44%). CONCLUSION: The presence of suicidality as a depressive symptom did not predict poorer clinical outcome when treating depression in the primary care setting in the patients studied.