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.

Emicizumab Prophylaxis in Patients with Severe Hemophilia A: Insights from A Resource Limited Country.

Methods: In this prospective study, severe HA patients were recruited from January 2022 to June 2023. Inhibitor positive and inhibitor negative patients with annual bleeding rate (ABR) 8 or greater and past histories of bleeding like intra-cranial, intra-abdominal, and pseudo-tumors were included. Emicizumab loading dose was 3 mg/kg in the first 4 weeks, and the maintenance dose was started at week 5 at 6 mg/kg/month.

The Impact of ABO Incompatibility on the Outcomes of Hematopoietic Stem Cell Transplantation: A Single-Center Study From Pakistan.

Background and objective Allogeneic hematopoietic stem cell transplantation (alloHSCT) provides curative treatment for several hematological illnesses. In this study, we evaluated the impact of ABO compatibility and incompatibility on outcomes and complications related to hematopoietic stem cell transplantation (HSCT) performed for various hematological disorders at our center. Methodology This was a retrospective, single-center, cohort study in which patients were categorized according to the ABO match and mismatch status.

Correlation Between Serum Ferritin and Degree of Hepatic Fibrosis on Fibroscan in Thalassemic Patients.

Aim and objective This study aimed to examine the relationship between serum ferritin levels and the degree of hepatic fibrosis as detected on Fibroscan in thalassemia patients. Materials and methods This was a single-center and cross-sectional study conducted from April 2021 to December 2022. The sample population comprised 55 beta-thalassemia patients receiving treatment at the National Institute of Blood Diseases and Bone Marrow Transplantation, Karachi, Pakistan.

Management of Severe Hemophilia A: Low-Dose Prophylaxis vs. On-Demand Treatment.

Introduction: Prophylactic clotting factor infusion regimens to prevent bleeding and joint deformity has become the standard of care in severe hemophilia A patients.

Aim: To assess low-dose factor prophylaxis in our population as an alternative approach to managing severe hemophilia A.

Methods: A prospective cohort study that included 68 hemophilia A patients divided into two groups, i.