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Background: Chronic lymphocytic leukaemia (CLL), an indolent but malignant lymphoproliferative disorder, is characterized by unregulated and uninhibited growth of mature monoclonal lymphocytes, with deletion of 17p containing TP53 gene being the most important prognostic factor. TP53 mutations, reported in 10% of CLL cases, seem to have a direct correlation to a more advanced stage and aggressive transformation of CLL., Methods: This was a retrospective cross-sectional descriptive study limited to a period from 1st June 2013 to 30th June 2016, conducted at Section of haematology, Department of Pathology and Laboratory Medicine, Aga Khan University Hospital, Karachi. One thirty-nine cases of CLL received for TP53 mutation analysis at the Aga Khan University hospital clinical Laboratory were included in the study. Five ml of whole blood or one ml of bone marrow aspirate sample in EDTA tube was collected for the detection of TP53 mutation by the FISH technique. Statistical package for social sciences 21 was used for data entry and analysis., Results: Of the 139 chronic lymphocytic leukaemia patients, 43 (31%) were females and 96 (69%) were males. The mean age of all patients was 56.3±10.84 years. Tp53 gene mutation in patients with chronic lymphocytic leukaemia was found only in 19(13.7%) patients. Among these patients 15 (10.9%) were male and 04(2.9%) were females. Age and gender were not statistically significant with Tp53 mutation with a p-value > 0.05 at a 95% confidence interval., Conclusions: In a cohort of Pakistani patients with Chronic lymphocytic leukaemia, TP53 gene mutation was found in 19 (13.7%).

Background: The "Philadelphia Negative Classic Myeloproliferative Neoplasms" include polycythaemia vera (PV), essential thrombocythaemia (ET) and idiopathic myelofibrosis (IMF). These three disorders share several clinical and laboratory features including JAK2 V617F mutation. Our objectives were to determine the clinico-pathological profile and outcomes of Pakistani patients with polycythaemia vera (PV), essential thrombocythaemia (ET) and idiopathic myelofibrosis (IMF) in order to have an insight regarding behaviour of these conditions., Methods: A retrospective analysis of all the cases of PV, ET and IMF diagnosed at our institute from January 1995 to December 2013 was performed. Age, gender, clinical presentation, laboratory investigations, treatment provided and duration of follow-up were included for analysis. Appropriate statistics were utilized for calculation of data., Results: A total of 58 patients were diagnosed as PV, ET or IMF during the study period. Male to female ratio was 1.1:1. Forty five percent (n=27) patients came to medical attention due to abnormal laboratory results, 3 had cerebrovascular events, 3 had pruritus, and 1 patient each with gangrene and Budd-Chiari syndrome. Haemorrhage was not seen in any patient. Sixty percent (n=35) patients were treated with phlebotomy, hydroxyurea and aspirin alone or in combination. None of the patients transformed to myelofibrosis (MF) or myelodysplasia (MDS) during the mean (±SD) follow-up period of 57.2±50 months. One patient with ET transformed to acute myeloid leukaemia 9 years after the diagnosis., Conclusions: This study demonstrated a relatively more benign form of PV, ET and IMF with lesser frequency of symptoms, good response to treatment and less likelihood of transformation to MF, MDS or AML.

Background: This study was carried out to analyze the proportion of T cell acute lymphoblastic leukemia (TALL) among all acute lymphoblastic leukemia (ALL) in Pakistani population and its correlation with the demographic features. Accuracy of cell surface markers used in flow cytometric analysis of the leukemic cells was also determined., Methods: Data of 209 consecutive cases of acute lymphoblastic leukemia (ALL) presenting between July 1995 and July 2003 was analyzed. Flow cytometry was performed on all ALL cases using the standard protocols. TALL markers included CD3, CD5 and CD7., Results: Proportion of TALL among known ALL Pakistani patients was 17.22%. Mean age of the TALL patients was 17.2 years. Proportion of TALL was higher in adults than in children (21.95% vs. 14.17%). Overall in this study there were more male patients affected by TALL (25/36 or 69.40%) than females (11/36 or 30.60%). The female to male ratio among TALL patients was 1:2.27. However, the proportion (%) of TALL in females was higher than males (18.96% vs. 15.82 %) i, e, 1.2:1. CD7 was found to be the most sensitive among both adults & children. It was positive in 94.4% of the TALL cases., Conclusion: Proportion of TALL among ALL in Pakistan is similar to that reported in this region, indicating a candidate association with geographical location and socioeconomic status. The reactivity of markers with TALL. cells was similar to what we expected based upon literature. However, due to some aberrant and cross reactivity displayed by each marker, we strongly recommend a panel approach including B and myeloid markers to ensure a correct diagnosis of TALL.

Background: Safe use of progestin-only hormonal preparations has remained quite controversial though they are being employed in various disorders very commonly. These hormones result in a number of adverse effects in the body, the most drastic being predisposition to higher risk of thromboembolism with reports of involvement of platelets. Despite a large number of studies, no definite inference had been derived regarding the effects of these agents on blood coagulation. It has been reported that the response in various ethnic groups may vary. Therefore this study is designed to observe the effects of progestin-only hormonal contraceptives regarding primary hemostasis in our population., Methods: We carried out this study on 50 women divided into two equal groups of 25 each, namely, a group of users of Progestin-only injectable hormonal contraceptive Norethisterone oenanthate 200 mg used as a 2-monthly injection and a control group and studied platelet aggregation against ADP, Collagen, Epinephrine and Ristocetin., Results: There was no statistical difference regarding the platelet aggregation studies against ADP, collagen, epinephrine and ristocetin between users and nonusers of progestin-only injectable contraceptive. The menstrual irregularities were found to be more frequent in users of injectable hormonal contraceptives than in non-users, especially amenorrhea and irregularities of menstrual flow. In users of injectable hormnonal contraceptives, hemoglobin and hematocrit were slightly better maintained as compared to non-users., Conclusion: This suggests that Norethisterone oenanthate at currently used doses does not increase the platelet aggregation against ADP, collagen, epinephrine and ristocetin in our population.

Background: Acute myeloid leukemia (AML) is a heterogeneous disease. Therefore, various parameters are needed to classify this disease into subtypes, so that specific treatment approaches can be utilized effectively. The commonly used method for diagnosis and classification is based on FAB criteria using morphology and cytochemical stains. For some of the categories, immunophenotyping is necessary. The aim of present study is to determine the frequency of various sub types in acute myeloid leukemia using FAB criteria in our population. This will aid in the correct diagnosis of acute leukemia and hence proper management of the patients., Materials and Methods: This is descriptive case control study conducted at Aga Khan University Hospital from January 1999 to December 2000. The total number of subjects was 116 that included both adults and children. The patients were diagnosed on the basis of bone marrow morphology using FAB classification. Cytochemistry was done in all cases, while immunophenotyping was considered only in those cases that were found to be problematic., Results: Among 116 patients, 70 were males and 46 were females with male to female ratio 1.5:1. The age ranged between 6 months to 85 years with a mean age of 32 years. AML-M4 was the predominant French-American-British (FAB) subtype (36.2%) followed by M2 (30.25%), M3 (10.4%), M1 (8.7%), M0 (7.7%), M5a (3.5%), M5b (2.5%) and M6 (0.8%)., Conclusions: The most common FAB subtype observed in our study was Acute myelomonocytic leukemia (M4) which is in accordance with studies reported from Saudia Arabia and a previous study reported from our institution. However,other national and international studies have reported Myeloblastic Leukemia with maturation (M2) as the predominant subtype of AML.