Population-Based Genetic Study of ß-Thalassemia Mutations in Mardan Division, Khyber Pakhtunkhwa Province, Pakistan.

ß-Thalassemia (ß-thal) is the most prevalent hereditary blood disorder in Pakistan with a carrier rate of 5.0-8.0%. The homozygous affected children require frequent blood transfusions for their survival. This autosomal recessive disease can only be prevented through awareness programs, carrier screening, mutation detection, genetic counseling and prenatal diagnosis (PND). The present study aimed to determine the prevalence of various mutations causing ß-thal and also to detect carriers of these mutations in families living in the Mardan Division, Khyber Pakhtunkhwa (KP) Province, Pakistan. The study was conducted at the Department of Biochemistry, Abdul Wali Khan University Mardan, Pakistan. Blood samples of ß-thalassemic families were collected from various transfusion centers in Mardan Division. Using the amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) technique, all samples were analyzed for the six most common mutations causing ß-thal in this area. Six different mutant primers for the detection of different mutations were used. The most common mutations detected in thalassemic patients were frameshift codons (FSC) 8/9 (+G) (HBB: c.27_28insG), codons 41/42 (-TTCT) (HBB: c.126_129delCTTT), and IVS-I-5 (G>C) (HBB: c.92+5G>C). The predominant mutation for carrying the mutant genes for ß-thal were FSC 8/9, IVS-I-5, codons 41/42, IVS-I-1. It was also found that 66.7% of marriages were consanguineous. The FSC 8/9 mutation was found to be the most common ß-thal mutation with a frequency of 44.4%. This research project provides a strong incentive for the establishment of large scale mutation detection and PND services in the Mardan Division.

Computerized tomographic study of normal Evans index in adult Nigerians.

BACKGROUND: The evaluation of degree of ventricular enlargement should be based on established indices rather than on personal experience as this is highly subjective. Our aim was to establish normal values for Evans index in a Nigerian adult population as none has been found in the Nigerian medical literature. MATERIALS AND METHODS: Axial computerized tomographic brain scans of 488 normal subjects were reviewed retrospectively. Of them, 319 (65.36%) of the patients were males and 169 (34.63%) were females; their ages ranged from 18 to 84 years with a mean age of 37.26 years. The images were acquired using a multi-slice GE Sigma excite scanner. Evans index was measured as the linear ratio of the total width of the frontal horns of the cerebral lateral ventricles to the maximum intracranial diameter. RESULTS: The mean value for Evans index for the studied population was 0.252 ± 0.04. The EI increased with age and it was slightly higher among males. The difference in Evans value in males and females was not statistically significant. Individuals above 60 years old had the highest Evans values in both sexes. CONCLUSION: This study has established ranges of normal value for Evans index in a Nigerian population. It agrees with the diagnostic cut-off value of > 0.3 for hydrocephalus and it compares well with that of the Caucasians.