Validation of Automated ESR Methods with Conventional Method as Gold Standard

Objective: To compare the ESR values by VesMatic Easy and Vacuette SRS 20/11 with conventional Westergren method, aiming to validate the automated methods. Material and Methods: A cross-sectional study was conducted at Islamabad Diagnostic centre, Islamabad. A total of 108 blood samples were subjected to ESR estimation by manual Westergren method and by automated (Ves-Matic and Vacuette SRS) methods. Results were analyzed on SPSS ver. 17. Results were compared and their correlation was calculated using Pearson correlation coefficient. Results: There is strong positive correlation between Westergren method and Ves-Matic easy methods with Pearson coefficient of 0.97 and highly significant p value of 0.000. Results also show strong positive correlation between Westergren and Vacuette SRS methods with Pearson coefficient of 0.95 and highly significant p value of 0.00. Conclusion: Both automated methods (Ves-Matic Easy and Vacuette SRS) show good correlation to manual Westergren method, and are reliable and suitable for use in high workload clinical laboratory

Osteopetrosis, a Rare Cause for Bone Marrow Failure

Osteopetrosis is a rare genetic disorder characterized by functional defect of osteoclasts resulting in failure of bone resorption, increased bone sclerosis and bone marrow failure. Patients present with stunted growth, skeletal changes, hepatosplenomegaly, features of pancytopenia and characteristic radiological changes. Osteopetrosis has variable inheritance pattern. Diagnosis is made on the basis of history with clinical findings, characteristic radiological and bone marrow findings. We present a case of a 10 years old female child with stunted growth, frontal bossing, teeth abnormalities and characteristic radiological and bone marrow findings

Management of Thalassemia in Pakistan

Beta Thalassemia is the most common genetic disorder. The disorder is prevalent worldwide. About 3% of the world’s population carries the genes for Beta Thalassemia and it is estimated that every year about 60000 thalassemic babies are born all over the world.1 Approximately 79% of affected births are in the Asian population. Carrier rate in Pakistan ranges between 5-8%, and around 5000 children are diagnosed each year with beta thalassemia in Pakistan.2 Consanguinity is the main factor leading to high prevalence in Pakistan. There are 25,000 children registered with thalassemia federation of Pakistan however the actual figure is much higher which may be around one lac, as a lot many are living in villages that are not registered with any thalassemia cente

Clinical Manifestations of Acute Myeloid Leukemia

Background: Acute myeloid leukemias (AML) affect preferentially adults. Clinical manifestations are due to cytopenias and tissue infiltration. Manifestations vary with certain subtypes e.g. bleeding and infections are common with AML-M3, tissue infiltration is more often seen in AML-4 and M5, and bone marrow fibrosis is seen in AML-M7. Objective: To study demographic features and clinical manifestations of acute myeloid leukemia. Patients & Methods: A cross-sectional study was conducted at department of Pathology, Pakistan Institute of Medical sciences, Islamabad from July 2007 to July 2009. All the cases of AML (diagnosed on bone marrow biopsy) belonging to all age groups and both sexes were included in the study. Age at diagnosis, symptoms and clinical findings in AML and its various subtypes were noted. Results were entered on SPSS version 14 for statistical analysis. Results: In a total of 82 cases of AML, 55% were males and 45% females, with mean age of 27.5+19.9 years SD. The most common subtype was AML-M1 (33%) followed by M3 (22%) and M4 (18%), respectively. The common presenting symptoms were pallor, fever and bleeding. Hepatomegaly, splenomegaly, lymphadenopathy and gum hyperplasia were also frequent. Tissue infiltration was the commonest in AML-M5 and M4. Conclusion: Acute myeloid leukemia is the malignancy of adults; it is more common in males and manifestations vary with its subtype

Knowledge and Awareness about Genetic Problems Associated with Consanguineous Marriages among Non-Medical Students of Islamabad

Objective: To access the level of knowledge of non-medical students about genetic problems related to consanguinity. Methodology: A descriptive study was conducted from September 2015 to June 2016 to collect information regarding acquaintance and perceptions about, consanguineous marriages among students of different colleges and universities of Federal Capital. Specially designed performa was used to collect data. The collected data was analyzed by using Statistical Package for Social Sciences (SPSS) software version 16.0. Demographic characteristics of participants were calculated as Mean±SD. Chi-square test was applied to check the level of significance among different categorical variables. Results: A total of 424 students were surveyed, out of which 155 (36.6%) were male and 269 (63.4%) were female. The mean age of the study population was 20.39 ±2.44. The data analysis showed only 9.7% of students are fully aware of the problems associated with consanguinity. Girls were found to be more aware as compared to boys (p= 0.05) and among all ethnic groups, Punjabis were found to be more aware (16.9%). In subjects with a history of parental consanguinity and consanguinity in siblings, low level of awareness (8.8% and 8.5% respectively) was found. Conclusion: Efforts should be made to increase the knowledge about consanguinity and its association with genetic diseases among non-medical students.&nbsp

Thrombophilia and Pregnancy

Pregnancy is a state of hypercoagulation, most likely an adaptive mechanism, in order to reduce the risk of hemorrhage during and after the delivery. There are substantial changes in the haemostatic system during normal healthy pregnancy including rise in clotting factors I, VII, VIII, IX, and X, diminished protein S and fibrinolytic activity and resistance to activated protein C.¹ Reduced fibrinolytic activity is due to fivefold increase in PAI-1 (Plasminogen Activator Inhibitor type 1) levels.² In addition venous stasis increases during pregnancy as the lower-extremity veins dilate due to venous compression by the gravid uterus. Endothelial injury may also occur in antepartum or in postpartum period. The combination of these factors results in 4-5 times increased risk of venous thromboembolism (VTE) in the pregnant and postpartum patients.3 The prevalence of VTE in pregnancy is 0.8-2.0 per 1,000 pregnancies and accounts for 1.1 deaths per 100,000 pregnancies.4 The most important risk factor for women experiencing pregnancy-related VTE is prior personal history of VTE.5 The second most common risk factor is thrombophilia 6 7 Studies have shown that at least 20%, and possibly over 50%, of pregnant patients diagnosed with VTE have thrombophilia.8 There is a growing evidence that women with thrombophilia are also at risk of other vascular pregnancy complications, including recurrent fetal loss, pre‐eclampsia, stillbirths, abruption and intrauterine growth restriction

Spectrum of Mutations of Beta Thalassemia

Objective: To identify gene mutations known to cause thalassemia major and intermedia amongst patients coming to thalassemia Centre of Pakistan Institute of Medical Sciences(PIMS). Patients and Methods: Hundred transfusion dependent thalassemia patients were recruited from PIMS. Genome DNA was isolated by using phenol-chloroform method. Allele specific PCR was performed by using primers specific for twelve known disease causing mutations, prevalent in Pakistan. The PCR product was run on 6% polyacrylamide gel electrophoresis and visualized by silver staining technique. Results were recorded and data were entered and analyzed using SPSS version 16. Results: Total Number of patients included in the study was 100, among them 46% were males and 54% were females. Parenteral consanguinity was seen in 95% cases. Most common homozygous mutations were Fr 8-9 [23(28.7%)], followed by IVSI-5 [17(21.3%)] cases. Compound heterozygous mutations were seen in 20% cases, among them the most common was Fr 8-9/IVS1-5 (5/20 cases), and Fr 8-9/del 619 (3/20 cases). Analysis of type of mutation in different ethnic groups showed that Fr 8-9 was the most common mutation in Punjabis and Pathans seen in 14/63 and 6/28 cases respectively, followed by IVS1-5 seen in 11/63 and 5/28 cases respectively. The most common mutation in Thalassemia major was Fr 8-9 seen in 22 (25%) cases followed by IVS1-5 seen in 15 (17%) cases and Fr 41-42 seen in 10 (11.4%) cases. The number of patients of Thalassemia Intermedia was low in this study (n=12), however among these the commonest mutations were Cap +1, Fr 8-9, IVS1-5 and del 619, presenting as homozygous or compound heterozygous mutations. Conclusion: Molecular characterization of Thalassemia major and intermedia patients is very essential so that we can set trigger of hemoglobin level accordingly before putting them on regular transfusion. Less frequent transfusion, iron chelation and HU therapy will significantly reduce serum ferritin, liver and spleen size of this group of patients and thus significantly improve their quality of life.&nbsp

Screening for Beta Thalassemia Trait

Background : To evaluate the prevalence of beta thalassemia trait (BTT) among the students of schools, colleges and universities of Nawabshah city.Methods: In this descriptive cross sectional study students of schools, colleges and universities of Nawabshah were selected. The blood samples from these subjects were tested for complete blood count, and red cell indices. The microscopic examination of peripheral blood smears stained with Field’s stain was performed for the morphology of red blood cells. Serum ferritin and automated haemoglobin electrophoresis at cellulose acetate alkaline pH was performed. Subjects with microcytic hypochromic blood picture and low ferritin level were not subjected to haemoglobin electrophoresis.Results: In total of 521 subjects 65.4% were females, with female to male ratio of 1.8:1. Mean age was 17.5 years. On screening diagnosis of beta thalassemia trait was made in 4.9% cases and haemoglobin electrophoresis showed mean haemoglobin A2 of 5.8% in these cases. The microscopic examinations of peripheral blood smears among the subjects with BTT showed microcytic hypochromic red blood cells with presence of target cells.Conclusion: The prevalence of beta thalassemia BTT was 4.9%