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Objective: To determine pattern of different cytogenetic abnormalities found in patients of primary amenorrhea. Study Design: Cross sectional study. Place and Duration of Study: Chromosomal analysis was carried out on patients who were sent for diagnosis and evaluation of primary amenorrhea to Armed Forces Institute of Pathology, from Mar 2013 to Mar 2017. Methodology: Chromosomal culture and karyotype analysis was done on peripheral blood of 260 patients sent for cytogenetic testing. Sample was collected in sodium Heparin and after 72 hours, 20 metaphases were observed. Results: A total of 260 patients with complaints of primary amenorrhea (PA) were karyotyped. Patients who had karyotype abnormalities were 48 (18.5%). Most common abnormality was Turners syndrome present in 30 individuals (11.5%) including mosaic pattern which was present in 8 patients. Male karyotype was present in 8 (3.07%) patients. Structural chromosomal abnormality Isochromosome (iXq) was seen in 4 patients. One patient had 46X with del Xp (p 1.1). One patient had 46XX t (4; 14). Marker chromosome was seen in one patient. Two patients had 47 XXX. Conclusion: Cytogenetic disorders have a considerable impact on individuals, their families and on society. Early diagnosis of such disorder is imperative. All the cases of primary amenorrhea should have cytogenetic testing.

Objective: To determine the frequencies of different cytogenetic abnormalities in patients of Acute Myeloid Leukemia and Acute Lymphoblastic Leukemia in Northern Pakistan. Methods: It was descriptive cross-sectional study conducted in Hematology Department of a Tertiary care referral institute from June 2015 to July 2017. All newly diagnosed cases of Acute Leukemia were analyzed. Cytogenetic analysis was performed on bone marrow aspirate samples using Giemsa-trypsin banding technique. Karyotypes were identified and interpreted according to ISCN criteria. Results: A total of 355 newly diagnosed patients of Acute Leukemia were analyzed. Out of these, 180 patients had AML and 175 had ALL. In Acute Myeloid Leukemia chromosomal abnormalities were detected in 28.2 % cases. Of these the common ones included t(8;21),t(15;17),+8, Inversion 16 and Monosomy 7. Other abnormalities included Complex karyotype, Down’s syndrome related AML, Hyperdiploidy, del 16q,-8,+Y and t(3p;17q)del 10. In Acute Lymphoblastic Leukemia chromosomal abnormalities were detected in 40% cases. Common ones included Hyperdiploidy, Tetraploidy and t(9;22). Other abnormalities included t(1;19) and t(2;8)t(8;14). Conclusion: Cytogenetically favorable abnormalities are commonest occurring chromosomal defects in both Acute Myeloid Leukemia and Acute Lymphoblastic Leukemia in Northern Pakistan, i.e., t(8;21) in AML and Hyperdiploidy in ALL. [ABSTRACT FROM AUTHOR]

Objective: To determine the diagnostic accuracy of Ret-He in detecting IDA, keep ingserum ferritin as gold standard Study Design: Cross sectional study. Place and Duration of Study: Department of Haematology, AFIP Rawalpindi, from Jan to Jul 2017. Methodology: Study involved 165 female patients who presented with anemia (hemoglobin <11g/dl). Ret-He was determined having a level of <27.8 pg/L as diagnostic of IDA. Diagnosis of IDA was confirmed on serum ferritin level <11 ng/ml taking it as gold standard. Accordingly, diagnostic accuracy of Ret-He was determined considering low serum ferritin level as gold standard. Results: The mean age of the patients was 27.52 ± 13.57 years. Mean hemoglobin level was 9.17 ± 1.59 g/dl while mean serum ferritin level was 15.20 ± 12.89 ng/ml. Ret-He ranged from 11.0 pg/L to 39.4 pg/L with a mean of 23.34 ± 8.21 pg/L. IDA on the basis of serum ferritin level was diagnosed in 75 (45.5%) patients while Ret-He labeled IDA in 85 (51.5%) patients. When cross-tabulated, there were 70 TP, 15 FP, 5 FN and 75 TN cases which yielded 93.33% sensitivity, 83.33% specificity, 87.88% accuracy, 82.35% PPV and 93.75% NPV for Ret-He in diagnosing IDA keeping serum ferritin as gold standard. Thus the optimal cut-off value of Ret-He was found to be <27.6 pg/L which gave 93.33% sensitivity and 83.33% specificity in detecting IDA keeping serum ferritin as gold standard. Conclusion: Ret-He was found as fast and reliable technique to diagnose IDA in female population. However, further studies are required for confirmation of its efficacy. [ABSTRACT FROM AUTHOR]

Background: Glucose 6 phosphate dehydrogenase (G6PD) deficiency is an inherited enzymopathy that is associated with hemolytic anemia. Objective: To evaluate the diagnostic accuracy of G6PD biosensor analyzer used at study site for the quantitative measurement of total G6PD enzyme activity in whole blood using Trinity biotech quantitative assay as gold standard. Study type, settings and duration: This cross-sectional study was conducted in the Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi from April 2018 to September 2018. Methodology: One hundred and thirty seven patients having unexplained hemolytic anemia and suspected to have G6PD deficiency were included in the study using non-probability consecutive sampling technique. Detailed history, including drug history and transfusion history was taken and a complete physical examination was done. Each eligible patient was analyzed by G6PD biosensor analyzer for the quantitative measurement of total G6PD enzyme activity while Trinity biotech quantitative assay was used as gold standard. Results: A total of 137 individuals with unexplained haemolytic anaemia suspected of having G6PD deficiency were enrolled in our study. On statistical analysis, G6PD Biosensor Analyzer was found to be 96.08% (95% CI: 86.54-99.52%) sensitive and 89.53% (95% CI:81.06-95.10%) specific as compared to our gold standard method Trinity Biotech. The positive likelihood ratio was 9.18 (95% CI:4.94-17.08) while the negative likelihood ratio was 0.04 (95% CI:0.01-0.17) with a positive predictive value and a negative predictive value of 84.48% (95% CI: 74.53-91.01%) and 97.47% (95% CI:90.81-99.34%), respectively. The accuracy of our test determined to be 91.97% (95% CI:86.09-95.92%). Conclusion: G6PD Biosensor Analyzer is a rapid and cost-effective method for diagnosis of G6PD deficiency. [ABSTRACT FROM AUTHOR]

Objective: To determine the frequencies of three isoforms of PML RARα fusion gene in APL. Study Design: Descriptive cross sectional study. Place and Duration of Study: Department of Hematology, Armed Forces Institute of Pathology (AFIP), Rawalpindi Pakistan, from Apr 2015 to Oct 2015. Material and Methods: This study involved 97 newly diagnosed cases of APL, aged between 15-70 years from both genders. Double nested PCR was carried out by Applied Biosystems 2720 Thermal Cycler in every patient to determine the isoform of PML RARα fusion gene. A written informed consent was obtained from every patient. Results: The age of the patients ranged from 17 years to 69 years with a mean of 37.87 ± 12.89 years. There were 68 (70.1%) male and 29 (29.9%) female patients in the study group. The bcr1 isoform was found in 9 (9.3%) patients. There was no significant difference in the frequency of bcr1 isoform across age groups; 17-34 years vs. 35-52 years vs. 53-69 years (14.6% vs. 7.0% vs. 0.0%; p=0.223) and genders; male vs. female (7.4% vs. 13.8%; p=0.317). The bcr2 isoform was found in 26 (26.8%) patients. There was no significant difference in the frequency of bcr2 isoform across age groups; 17-34 years vs. 35-52 years vs. 53-69 years (19.5% vs. 27.9% vs. 46.2%; p=0.164) and genders; male vs. female (25.0% vs. 31.0%; p=0.539) while the bcr3 isoform was found in 62 (63.9%) patients. There was no significant difference in the frequency of bcr3 isoform across age groups; 17-34 years vs. 35-52 years vs. 53-69 years (65.9% vs. 65.1% vs. 53.8%; p=0.717) and genders; male vs. female (67.6% vs. 55.2%; p=0.242). Conclusion: The most frequent isoform of PML-RARα fusion gene was bcr3 which was observed in 62 (63.9%) cases followed by bcr2 (26.8%) and bcr1 (9.3%). There was no significant difference in the frequency of isoforms with patient's age and gender. [ABSTRACT FROM AUTHOR]

Objective: To determine frequency of different types of leukemias and aberrant CD markers expression on these types. Study Design: Descriptive study. Place and Duration of Study: Department of Immunology, Armed Forces Institute of Pathology, Rawalpindi from Jul 2015 to Dec 2015. Material and Methods: All peripheral blood and bone marrow samples to confirm the suspicion of acute leukemia with flow cytometric immunephenoltyping were included in the study. Cells were stained with lineage specific monoclonal antibodies against cell specific CD markers through lyse wash procedure. Cell acquisition and analysis was done on Cell Quest software in multi parameter flow cytometer. Data was entered in SPSS v 20.0 to determine the frequencies of different types of leukemias and aberrant CD markers expression. Results: Over 6 months, 102 males and 49 females were tested with mean age 26 ± 21 years. Commonest leukemia was AML M2. Among 69 pediatric cases with mean age 7.4 ± 5.8 years, precursor B ALL was commonest. Among 82 adults with mean age 41.5 ± 15.7 years, AML M2 was commonest leukemia. Total 32 cases (18 children and 12 adults) expressed cross lineage aberrant markers, CD13, CD33 and CD7. Conclusion: Aberrant CD markers expression must be kept in mind during lineage assignment of acute leukemias while performing flow cytometric immunophenotyping. [ABSTRACT FROM AUTHOR]

Objective: To evaluate Immunophenotyping patterns in Mixed-Phenotype Acute Leukemias (MPAL). Study Design: Descriptive study. Place and Duration of Study: This study was carried out in the department of Hematology, Armed Forces Institute of Pathology Rawalpindi, from 1st Jan 2013 to 31st Jan 2017. Material and Methods: After taking informed consent from the patients fulfilling the inclusion criteria, detailed history was taken and blood samples were drawn for blood complete picture. The patients suspected to have acute leukemia were subjected to bone marrow examination (aspiration and trephine biopsy) for further cytochemical staining (SBB) and Immunophenotyping. Results: Total 680 new cases of acute leukemias on initial workup of either gender age were included. Patients of other haematological disorders were excluded from the study. Among 680 new cases of acute leukaemia, 23(3.4%) cases were of MPAL immunophenotyping using scoring system proposed by EGIL (European Group for the Immunological Characterization of Leukemias) classification. Among MPAL, 19(83%) cases were Biphenotypic [13(57%) cases of My/B-ALL, 5(22%) cases of My/T-ALL, and 1(4%) case of T/B-ALL]. 4(17%) cases were Bilineage (My/B-ALL). Most of the cases were diagnosed at less than 10 years of age. Conclusion: My/B-ALL is the most common immunophenotype followed by My/T-ALL. Therefore immunophenotyping is indispensable for diagnosis and for therapy decisions of MPAL. [ABSTRACT FROM AUTHOR]

Objective: To determine the frequency of Von Willebrand disease (vWD) in patients of heavy menstrual bleeding (HMB). Study Design: Hospital based cross sectional study. Place and Duration of Study: Study was conducted at the Gynecology and Obstetrics department, Military Hospital, Rawalpindi in collaboration with Haematology Department of Armed Forces Institute of Pathology (AFIP) Rawalpindi, from Jul to Dec 2015. Material and Methods: Women presenting with HMB were enrolled in the study after informed consent. HMB was defined as cyclical bleeding at normal intervals but patient is using more than 5 pads per day or increase in duration 8/28 or more for at least last 06 months. Venous blood samples were taken and screened for the hemoglobin level (Hb), platelet count, prothrombin time (PT), activated partial thromboplastin time (aPTT) and Von Willebrand antigen (vWF:Ag) in addition to bleeding time (BT) at the Armed Forces Institute of Pathology (AFIP). The demographic details (age, age at menarche), clinical features (menstrual history, quantity of bleeding) and laboratory findings were recorded on the study proforma. Results: A total of 200 patients were enrolled in this study with mean age of 32.3 ± 8.5 years. Mean flow of menstrual blood was 9.8 ± 2.5 pads / day. Mean Hb% was 8.1 ± 1.4 g/dl. Twenty nine (14.5%) patients were having low level of vWF:Ag. Conclusion: There is high frequency of von Willebrand disease among females presenting with heavy menstrual bleeding in our set up. Therefore all patients with heavy menstrual bleeding except those with obvious causes like multiple fibroid should be screened for von Willebrand disease. [ABSTRACT FROM AUTHOR]

Pneumocystis Carinii and Trichosporon beigelii are opportunistic infections in immunocompromised patients. We report a case of a young lady who underwent haemopoeitic stem cell transplantation for relapsed acute lymphoblastic leukemia. This 25 years old female developed fever, dry cough and rapidly progressive dyspnoea during post transplant neutropenia and was found to be suffering from Pneumocystis carinii pneumonia. She was successfully treated with Co-trimoxazole. The patient again presented with similar symptoms on day 55 post transplant. This time Trichosporon beigelii was isolated from bronchoalveolar lavage and she responded to prompt antifungal therapy. Other complications encountered during the subsequent course were extensive subcutaneous emphysema and spontaneous pneumothorax that required chest intubation and brief hospitalization. The patient is presently nine months post transplant and is asymptomatic.