Congenital fibrinogen disorders: a retrospective clinical and genetic analysis of the Prospective Rare Bleeding Disorders Database.

Congenital fibrinogen deficiency (CFD) is a rare bleeding disorder caused by mutations in FGA, FGB, and FGG. We sought to comprehensively characterize patients with CFD using PRO-RBDD (Prospective Rare Bleeding Disorders Database). Clinical phenotypes, laboratory, and genetic features were investigated using retrospective data from the PRO-RBDD.

Frequency Of CD34 Expression In Acute Lymphoblastic Leukaemia And Its Correlation With Clinicopathological Characteristics: A Single Centre Experience From Pakistan.

Background: This study was carried out to determine the frequency of CD34 positivity in acute lymphoblastic leukaemia (B-ALL) in our population and to report its association with the clinicopathological profile at the time of diagnosis.

Methods: The cross-sectional study was conducted at National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan, from March 2020 till December 2020.Newly diagnosed patients were selected, from both genders and all age groups.

Assessment of Hepatic Profile in Acquired Aplastic Anemia: An Experience From Pakistan.

Introduction:  Aplastic anemia (AA) is characterized by pancytopenia and hypocellular marrow in the absence of an abnormal infiltrate or increase in reticulin fibrosis. The diagnosis of AA is challenging at times due to decreased cellularity and overlapping morphological features with other bone marrow failure syndromes. Hepatitis-associated aplastic anemia (HAAA) is a rare variant in which patients typically present with jaundice and hepatitis followed by pancytopenia almost within 6 months.

Coagulation Abnormalities and Risk Assessment in Acute Promyelocytic Leukemia: An Experience From a Resource-Constraint Country.

Introduction The objective of the study was to assess the impact of coagulopathy in risk-stratified acute promyelocytic leukemia (APML) patients irrespective of bleeding manifestation. Patients and methods This was a cross-sectional study design conducted at the National Institute of Blood Diseases and Bone Marrow Transplantation (NIBD & BMT) from November 2019 to December 2021. A total of 62 patients between three years to 74 years of age of either gender and treatment-naive cases of APML were included in the study.

The Frequency of Rh Phenotype and Its Probable Genotype.

Aims And Objectives: Our goal is to disseminate data on the distribution pattern of Rh antigen, its phenotypes, and the likely genotypes of these genetic variants in the Pakistani population.

Methodology: This study was a cross-sectional research project. Patients' demographic statistics, such as age and gender, were gathered from their medical information.

Environmental and occupational determinants of myelodysplastic syndrome: A case-control study from Pakistan.

Background: Myelodysplastic syndromes (MDS) are heterogeneous group of haematopoietic stem cell disorders and have variable reduction in the production of red cells, platelets and mature granulocytes.

Aim: We conducted a case-control study evaluating the environmental and occupational determinants as risk factors of MDS.

Methods: A case-control study was conducted including 150 de novo MDS cases and 450 age and gender-matched controls.

Usefulness of convalescent plasma transfusion for the treatment of severely ill COVID-19 patients in Pakistan.

Background: Convalescent plasma(CP) was utilized as potential therapy during COVID-19 pandemic in Pakistan. The study aimed at appraisal of CP transfusion safety and usefulness in COVID pneumonia.

Methods: Single arm, MEURI study design of non-randomized open label trial was conducted in five centers.

Additional cytogenetic abnormalities in chronic myeloid leukaemia; an experience from Pakistan.

Objective: To evaluate the presence and characteristics of additional karyotype abnormalities in chronic myeloid leukaemia cases.

Methods: The cross-sectional study was conducted at the Department of Cytogenetics and Molecular Pathology, National Institute of Blood Diseases and Bone Marrow Transplant, Karachi, from May 2010 to September 2016 and comprised diagnosed chronic myeloid leukaemia patients regardless of age and gender. Baseline cytogenetic evaluation was done on overnight, 24-hrs un-stimulated and 72-hrs stimulated bone marrow cultures, and karyotypes were defined according to the International System for Human Cytogenetic Nomenclature2013.

Utilisation of blood products at a centre in Pakistan. Is donating better than wasting?

The study was designed to investigate the quantity and reasons of wastage of blood products. This was an observational study conducted from February 2018 to February 2019 at the National Institute of Blood Disease and Bone Marrow Transplantation (NIBD and BMT), PECHS campus. The study was approved by the institutional review board.

Emerging Anti-Microbial Resistance in Febrile Neutropenia: Is it high time to evaluate quality control measures?

Objective: We performed a prospective analysis at our center to find out the most common organisms causing bacterial infections to establish pattern of antibiotic resistance, in order to combat febrile neutropenia effectively in the terms of outcome as well as cost.

Methods: A hospital based observational study was conducted at National Institute of Blood Diseases and bone marrow transplantation from January 2017 to December 2017. Patients presented with absolute neutrophil count (ANC) of less than 500/ml were enrolled.

Coagulation abnormalities in dengue and dengue haemorrhagic fever patients.

Objective: The aim of this study was to assess abnormality of coagulation and anticoagulation parameters in dengue fever patients and the impact of these tests on the management of patients.

Background: Dengue fever is endemic in Pakistan with seasonal rise in cases. Morbidities and mortalities are proportionately reported to be increasing and associated with disseminated intravascular coagulation resulting in haemorrhagic or thrombotic manifestations in patients having deranged coagulation profiles.

Pattern of Antimicrobial Sensitivity in Microbiologically Documented Infections in Neutropenic Patients with Haematological Malignancies: A single Center Study.

Febrile neutropenia is a medical emergency that complicates the clinical course and treatment of haematological malignancies, significantly enhancing the financial burden and worsening the overall outcome. This study was carried out to evaluate the efficacy of institution's current first-line antibiotic regimen for febrile neutropenia in view of recent spectrum of institution's local flora and its susceptibility pattern. 163 episodes of microbiologically documented infections in 110 adult patients were studied over a period of 1 year.

Early and sustained deep molecular response achieved with nilotinib in high Sokal risk chronic myeloid leukemia patients.

Background: Nilotinib (Tasigna®) is a second-generation tyrosine kinase inhibitor that shows faster and deeper molecular responses (MR) in comparison to Imatinib as initial therapy in chronic phase chronic myeloid leukemia (CML). Efficacy and safety data for nilotinib in the Asian population is scarce, particularly in Pakistan. We aimed to determine the MR to nilotinib and its safety profile in patients with chronic phase CML.

Genotyping of five Pakistani patients with severe inherited factor X deficiency: identification of two novel mutations.

: Congenital factor X deficiency is a rare coagulation defect characterized by variable bleeding tendency. The aim of the study was to give a first insight of F10 gene mutations in Pakistani probands. Direct sequencing and/or next-generation sequencing was performed on the coding regions, boundaries and 5' and 3' untranslated regions of the F10 gene in five severe factor X-deficient patients from Pakistan.

Application of the ISTH bleeding score in hemophilia.

Background: Hemophilia is an inherited bleeding disorder. With proper treatment and self-care, persons with hemophilia can maintain an active, productive lifestyle. Hemophilia can be mild, moderate, or severe, depending on the degree of plasma clotting factor deficiency.

Clinicohematological and cytogenetic profile of myelodysplastic syndromes in Pakistan-compare and contrast.

Background: Myelodysplastic syndromes (MDS) are clonal stem cell disorders exhibiting cytopenias, ineffective hematopoiesis and morphological dysplasia. Bone marrow cytogenetics, inspite of being incorporated as mandatory tool in diagnosis are done less frequently due to limited availability of this technique in Pakistan. The aim of the study was to study baseline clinicohematological and cytogenetic characteristics of patients presenting with de novo MDS.

Prevalence of transfusion transmissible infections in blood donors of Pakistan.

Background: Transfusion-transmitted infections threaten the safety of patients requiring blood transfusion, which in turn imposes serious challenges for the availability of safe blood products that are still affordable in health care systems with limited resources. The aim of the study was to determine the prevalence of transfusion-transmitted infections in blood donors and to evaluate the demographic characteristics of reactive and non-reactive blood donors.

Methods: A prospective cohort study was conducted at our institute in Karachi, Pakistan.