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

Silent mutations of thalassaemia - a diagnostic dilemma

A case of thalassaemia intermedia resulting from compound heterozygosity between Fr8-9 and Cap+1 mutation is presented. Patient's father had undergone premarital thalassaemia screening and was declared free of thalassaemia due to normal HbA[2] levels. We aim to discuss the clinico-haemtological features and diagnostic approach for Cap+1 mutation in carrier as well as compound heterozygous state with a beta[0] mutation

Evaluation of Pro-C Global for identification of defects in protein c/s anticoagulant pathway

Detection of protein C and S deficiency forms a major investigation in the laboratory evaluation of thrombophilia screening. It has key role in the diagnosis of protein C and S deficiency. The objective of this study is to determine the utility of ProC Global as a screening test for identifying the defects of protein C and S anticoagulant pathways. Two Hundred patients with venous thromboembolism were studied at the Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, from October 2004 to March 2006. ProC Global test [Dade Behring Diagnostics] was performed and was followed up by protein C and S assays. ProC Global is an activated partial thromboplastin time based assay in which Protac [snake venom from Aghistroden contortrix] is used for activation of the endogenous protein C of the plasma sample. The protein C activation time in the presence of the activator was set in relation to a parallel determination of PCAT/O with addition of a buffer instead of activator reagent. The ratio PCAT: PCAT/O was transformed in normalized ratio by relating them to a calibrator. Control plasma for normal range and ProC control plasma for pathological range [Dade Behring Diagnostics] were assayed in each run for quality control. A total of 200 patients, 132 [66%] males and 68 [34%] females with age ranging from 1 to 68 years were studied. ProC Global was positive in 29/200 [14.5%] patients. ProC Global was found to be 86% sensitive, 94% specific and its overall efficiency turned out to be 94%. Pro-C Global can be used effectively as a screening test to detect abnormalities in protein C and S anticoagulant pathways

JAK2 mutation and myeloproliferative disorders in Pakis

To study the haematological features and JAK2 mutation in Pakistani patients of myeloproliferative disorders. Descriptive cross sectional. Department of Heamatology, Armed Forces Institute of Pathology, Rawalpindi from Jan 2004 to Jan 2007. Forty seven consecutive patients of myeloproliferative disorders [MPD] diagnosed by the conventional haematological criteria were included in the study. The patients on treatment were excluded. Age, sex, splenic enlargement, blood complete counts and bone marrow examination findings were recorded. All patients were screened for G-T Point mutation [V617F] in the JAK2 gene on chromosome 9 by an allele specific PCR Out of the 47 MPD patients, 17 [36%] had polycythaemia rubra vera [PRV], 7 [15%] had essential thrombocythaemia [ET] and 18 [38%] had idiopathic myelofibrosis [MF]. JAK2 positive was seen in 37/47 [79%] patients including 17/17 [100%] in PRV, 4/7 [57%] in ET and 13/18 [72%] in IMF. MPDs are an important group of haematology disorders in Pakistan. Vast majority of these disorders [79%] showed mutation in the JAK2 gene. JAK2 mutation analysis is especially useful in the diagnosis of polycythaemia vera where it was found in 100% of the cases