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FAS/FASL signaling system plays a vital role in the regulation of apoptosis, envisaged as a death process required for immune surveillance to prevent autoimmunity and tumorigenesis along with several other biological activities. Several single-nucleotide polymorphisms (SNPs) of FAS/FASL system can result in aberrant apoptosis, which can cause different cancers and autoimmune diseases. Aplastic anemia (AA) is an autoimmune dysfunction characterized by peripheral blood pancytopenia associated with hypoplasia of bone marrow. The aim of this study was to screen Pakistani AA patients and controls for two Fas SNPs rs2234767 and rs1800682 and two FASLG SNPs rs763110 and rs5030772. Genotyping of 392 DNA samples was done by Tetra-ARMS polymerase chain reaction. Genotypic frequencies of Fas rs1800682 and FASLG rs5030772 showed significance difference in their distribution in both controls and patients, while Fas rs2234767 and FASLG rs763110 SNPs had no such difference. Carriers of rs1800682 AG+GG had a very odd ratio of 4.63, with 95% confidence interval (CI) of 3.01-7.11, while individuals with FASLG rs5030772 AG+GG were more common in controls than patients with OR 0.53 and 95% CI of 0.34-0.83. Cumulative effects of these SNPs were analyzed, and they showed almost similar trends; however, Fas rs2234767 and FASLG rs763110 genotypes in combination with Fas rs1800682 and FASLG rs5030772 demonstrated significant association. This study provided information that endorsed the involvement of FAS/FASL system SNPs in the pathogenesis of AA; further studies should be designed to understand the exact role of SNPs that can help in early diagnosis and treatment.

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Introduction: Retinoblastoma is most common pediatric ocular malignancy. Majority of patients presented with unilateral disease. Infiltration to other organs is common with bone marrow being one of the most common organ involved.Methodology: This study was conducted at Pakistan Institute of Medical Sciences Islamabad for a period of one year. A total of 47 known patients of retinoblastoma were included in study. All patients underwent bone marrow biopsy for evaluation of infiltration.Results: Out of 47 patients, 32 (68.1%) were male and 15 (31.9%) were female (ratio 2.13:1). 37 (78.7%) patients were unilateral and 10 (21.3%) were bilateral. Bone marrow infiltration was present in 14 (29.78%) cases. Conclusion:Bone marrow is among most common sites of involvement in patients with bone marrow biopsy. Distant metastatic involvement has great impact on treatment and overall survival of patients.

Introduction: Thalassemia is a common inherited disorder in Pakistan with around 5000 new cases diagnosed every year. Despite various preventive measures taken at the national level, the disease burden is still not declining. In this study the incidence of ß Thalassemia trait among pregnant females presenting to a tertiary care hospital is measured.Methods: This study was conducted at Pakistan Institute of Medical sciences. 102 Pregnant females who were referred to us for hemoglobin electrophoresis from July 2017-June 2018 were included. Complete blood count, peripheral film, reticulocyte count and hemoglobin electrophoresis was performed for each patient. Results:The mean age was 25 years and the mean period of gestation was 30.30 weeks. Out of 102 patients, 5 (4.9%) were diagnosed as ß Thalassemia trait. Of these, 2 (40%) did not have a positive family history of Thalassemia. We compared the results of our study with those done at different regions of Pakistan and found variable incidence of carrier state in different regions of the country. Conclusion:Antenatal screening is a forward step towards minimizing incidence of Thalassemia in Pakistan however clinicians should be directed to refer these patients in early pregnancy.