Introduction A clear picture of the prevalence of Fanconi anemia is not known due to limited studies and research of the subject. This study will detect the frequency of positive chromosomal breakage in pediatric aplastic patients and provide the evidence-based guidelines which help in consideration of appropriate treatment and awareness to the society. Methods A total of 104 aplastic anemia patients were recruited of age <18 years whose samples were tested for chromosomal breakage with mitomycin C (MMC). History of consanguinity between parents were documented for all the patients referred to us. Result Out of 104 diagnosed aplastic anemia patients, 35 (33.7%) patients were found to be Fanconi positive. Mean age of all hypoplastic patients for aplastic anemia and Fanconi anemia was 10.7 ± 4.5 and 10.6 ± 3.5, respectively. Male preponderance was found to be higher (64, 61.5%) as compared to females (40, 38.5%) in aplastic patients. The male to female ratio was observed as 2.5:1 in Fanconi patients while 1.3:1 in non-Fanconi aplastic patients. Parental consanguinity was observed in 33 (94.2%) with Fanconi anemia. Conclusion Fanconi anemia accounts for significant number of patients with hypoplastic bone marrow, therefore consanguineous marriages should be avoided through mass education in Pakistan.

Background and objectives: Area of residence may adversely affect survival and outcomes in many cancers. The objective of this study was to evaluate the impact of geographical and demographic disparities on survival of patients with colorectal cancer. Materials and methods: Data were obtained from the National Cancer Database (NCDB) colon, rectosigmoid, and rectal datasets. Patients were categorized by area of residence, namely, metropolitan (MA), urban (UA), or rural (RA). Sociodemographic and tumor-related data were collected and analyzed to evaluate variables affecting overall survival (OS). Results: In total, 973,139 patients between 2004 and 2013 were included in the study, of which 83%, 15%, and 2% were MA, UA, and RA residents, respectively. RA and UA patients were mostly white male with low income and no comorbidities. In univariate analysis, OS was worse for RA (hazard ratio [HR] 1.10) and UA (HR 1.06) colorectal cancer patients than that for MA colorectal cancer patients. In multivariate analysis revealed significant association between OS and geographic residence, with worse OS for RA (HR 1.02, p = 0.04) and UA (HR 1.01, p = 0.003) patients. Black (HR 1.14) and Native American (HR 1.17) patients had worse outcomes, while Asians (HR 0.8), women (HR 0.88), and patients with higher income had improved OS (HR 0.88). Conclusion: The differences in the OS for RA and UA patients with colorectal cancer were significantly driven by economic disparity. Area of residence represents an important factor independently limiting access to care, particularly in geographically isolated individuals.

INTRODUCTION: Incidence of autosomal recessive disorders is rare, includes deficiencies of clotting factors I, II, V, VII, X, XI, XIII, vitamin K dependent clotting factors, combined factor V & VIII, Von Willebrand disease type 3, Glanzmann Thrombasthenia and Bernard Soulier syndrome. OBJECTIVE: Spectrum of autosomal recessive bleeding disorders (ARBDs] among Pakistani patients. PATIENTS AND METHODS: This cross-sectional study was carried out at Karachi, Lahore, Islamabad and Peshawar. PT,aPTT, BT, and fibrinogen levels done. Patients with prolonged APTT were tested for factors VIII and IX. If FVIII was low, von Willebrand factor: antigen (vWF: Ag) and von Willebrand factor: ristocetin cofactor (vWF: RCo) were performed. When PT and aPTT both were prolonged, FII, FV, and FX were tested. Peripheral film and platelet aggregation studies were done for platelet disorders. Urea clot solubility test was done at the end. RESULTS: Out of429 patients, 148 were diagnosed with Hemophilia A, remaining 281 patients had ARBDs. 95 (33.8%) had VWD type 3. Fibrinogen deficiency was found in 34 (12%), Glanzmann Thrombasthenia in 27 (9.6%), factor XIII in 13 (4.6%), factor VII in 12 (4.3%), factor V in 9 (3.2%), 8 (2.8%) in vitamin K dependent clotting factors, , Bernard Soulier in 7 patient (2.5%),factor X in 2 (0.7%), factor II in 2 (0.7%), factor XI and combined factor V and VIII in 1 (0.4%)patients each. 70 patients (16.3%) remained undiagnosed. CONCLUSION: VWD type 3 is the most common deficiency followed by fibrinogen deficiency. Glanzmann thrombasthenia was the third most common ARBD. Disclosures No relevant conflicts of interest to declare.

Background: OSMF is chronic underlying disease. The disease is well recognized and had an importance due to high malignant transformation rate. Multiple etiological factors are found responsible in the pathogenesis of the disease course. The effect of areca-nut is mainly causing trismus of the oral cavity. This may compromise the food intake of the patients who are facing this precancerous disease. Method: Total one hundred and 28 patients were selected and equally distributed into two groups. It is an observational, cross- sectional study. Sixty four patient with OSMF were selected on the basis of fibrous band formation and mouth opening. The etiological factors such as chewing habit had been denoted in forms. The heamoglobin and iron levels were analyzed from laboratory using automated machines used for blood analysis. Results: The OSMF group showed insignificant variation when the two groups were compared. Whereas the sub-groups of OSMF are showing moderately significant correlation for the serum iron and heamoglobin levels. The outcome of the present study emphases on the assessment of heamoglobin and serum iron for OSMF patients. The patients must be prescribed with the micronutrients therapy so that any deficiency which may contribute in the disease course can be intercepted at the beginning. Further the patients must be educated in term of quitting the chewing habit so that his/ her life not get compromised due to OSMF.

According to the Thalassemia Federation of Pakistan, the mostly inherited disorder in Pakistan is β-thalassemia, which is characterized by a deficient, abnormal, or lack of β-globin chain synthesis and has a prevalence of 6%. The only method of controlling and preventing β-thalassemia is to increase awareness among students. This was an observational study using a random sampling technique. The Dow-Thalassemia awareness program recruited 915 medical students from the Dow Medical College (DMC) and Sindh Medical College (SMC) to voluntarily donate blood samples, which were analyzed by the naked eye single tube red cell osmotic fragility test (NESTROFT) and complete blood count and results were confirmed by high-performance liquid chromatography and analyzed using the NESTROFT. The samples were collected in 2012-2013. A total of 915 samples, out of these 390 samples, 390/915 (42.6%) samples were positive and complete blood count found 282 (72.3%) were positive for iron deficiency anemia. The remaining 108/390 (27.6%) were confirmed by high-performance liquid chromatography. Only 2.4 % subjects were positive for the β-thalassemia trait. Of 915 students, 57.4% of students were healthy, 39.2% had iron deficiency anemia, and 2.4% were carriers of the β-thalassemia trait. The overall prevalence of β-thalassemia was 38/915 (4.1%), which was lower than observed in previous studies. This study also demonstrated the NESTROFT can be used as a primary method of screening out healthy individuals, where approximately 50% require further screening for β-thalassemia