Role of genetic counselling in prenatal diagnosis of p-thalassaemia in Pakistan

To compare the response towards prenatal diagnosis [PND] of [3-thalassaemia, in individuals who had not received genetic counselling and a genetically counselled population. Cross-sectional survey. Department of Haematology, Armed Forces Institute of Pathology [AFIP], Rawalpindi, from March 2009 to December 2010. Using non-probability consecutive sampling, a total of 176 individuals having thalassaemic children, were interviewed regarding PND of thalassaemia, by using a structured questionnaire. Forty two individuals were taken as controls as they had received genetic counselling for PND, whereas the remaining 134 were taken as cases. Responses towards PND were compared using chi-square test. Odds ratio was also calculated for subsequent PND utilization. Seventy [52.2%] cases and 42 [100%] controls were aware of the availability of PND in Pakistan. This difference in awareness was statistically significant [p < 0.001]. In the controls, 40 [95.3%] individuals were aware of the appropriate timing of the test, in contrast to 52 [39%] cases [p < 0.001]. PND was used in subsequent pregnancies by 50 [37.3%] cases and 32 [80%] controls [p < 0.001]. The calculated odds ratio for subsequent PND utilization was 5.37. The study reflects a very positive attitude of genetically counselled thalassaemia affected families towards PND. For better utilization of PND, genetic counselling services should be available at all health strata

Frequency of janus associated kinase 2 [V617F] mutation in patients of polycythemia vera

To determine the frequency of Janus associated kinase 2 [JAK2] mutation in patients of polycythemia vera [PV]. Descriptive cross-sectional. Haematology Department, Armed Forces Institute of Pathology [AFIP], Rawalpindi, from January 2008 to December 2009. Forty-six consecutive patients of PV diagnosed by the conventional haematological criteria were included in the study. Blood samples of all patients were screened for G-T point mutation [V617F] in the JAK2 gene on chromosome 9 by an allele specific polymerase chain reaction [PCR]. JAK2 V617F mutation was found in 43 out of 46 patients [93.5%] with PV. Among them, 30 were males [65.2%] and 16 were females [34.8%]. Mean TLC in patients with PV was 16.5 +/- 9.1 x 109/L, mean haemoglobin [Hb] was 17.8 +/- 2.0 g/dl, mean platelet count was 531 +/- 261 x 109/L, mean PCV was 57.9 +/- 6.3 l/l, mean MCV was 78.8 +/- 11.0 fl and mean MCH was 24.4 +/- 4.8 pg. Peripheral blood mutation screening for JAK2 V617F can be incorporated into the initial work up of patients suspected to have polycythemia as this mutation is present in majority of such patients

Relative protection from ischaemic heart disease in beta-thalassaemia carriers

To compare the frequency of beta thalassaemia trait in individuals with Ischaemic Heart Disease [IHD] and a control population without IHD. Case control study. Department of Haematology, Armed Forces Institute of Pathology [AFIP], Rawalpindi, from September 2007 to May 2009. Using non-probability consecutive sampling, a total of 544 subjects were selected, including 272 IHD patients and an equal number of age and gender matched normal controls. The subjects were tested for the presence of beta-thalassaemia trait by performing their blood counts, haemoglobin electrophoresis and Haemoglobin A2 [HbA2] estimation. Proportions were compared using chi-square test. Odds ratio was also calculated. The frequency of beta-thalassaemia trait was determined in IHD patients and was compared to the frequency in normal Pakistani population. Six out of the 272 control subjects [2.2%] had beta-thalassaemia trait and one of the control subject had Haemoglobin D trait. In contrast, none of the 272 IHD patients had beta-thalassaemia trait. The calculated odds ratio was less than 1, which shows a significant negative association of beta-thalassaemia trait with IHD. The difference in the frequency of beta-thalassaemia trait in the two groups was statistically significant [p=0.033]. The results suggest that betaeta-thalassaemia carriers have some protection against IHD, though it is not an absolute cardio protection due to the role of other risk factors in IHD. This beneficial information may be communicated to the concerned individuals in their counselling sessions and as part of general awareness on thalassaemia