Congenital bleeding disorders are found in all racial groups and are present worldwide. Among all of them haemophilia A, B and Von Willebrand's disease are the commonest and they are characterized by the low blood levels of factor VIII, IX and Von Willebrand's factor respectively. Severity of bleeding is proportional to the severity of factor deficiency. The diagnosis of bleeding disorders can be complex, and no single diagnostic tests are suitable for all patients. The guideline was developed after reviewing relevant publications, summarizing current understanding of bleeding disorders and classification, and present a consensus diagnostic recommendation based on analysis of the literature and expert opinion. They also suggest an approach for clinical and laboratory evaluation of individuals with bleeding symptoms, history of bleeding or conditions associated with increased bleeding risk. The document summarizes needs for improvement in laboratory testing and quality which is very much needed in Pakistan to make a correct diagnosis, train master trainers, identify complications of bleeding disorders in local population, increase awareness among masses, involve government in haemophilia care, education of patients and their families and health care community. It further enhances the need for research in bleeding disorders, including clinical research to obtain more objective information about bleeding symptoms, advancements in diagnostic and therapeutic tools.
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Thromb Haemost
January 2025
Union Hospital of Huazhong University of Science & Technology, Institute of Hematology, Wuhan, China.
Objective To investigate the classification, clinical manifestations, laboratory findings, and genetic mutations associated with hereditary fibrinogen disorders in Chinese population. Methods Between February 2015 and February 2022, 65 patients with congenital fibrinogen disorders (CFD) were identified at Wuhan Union Hospital. Comprehensive data were available for 51 patients, allowing for a retrospective analysis.
View Article and Find Full Text PDFRev Med Virol
January 2025
Department of Urology, China-Japan Union Hospital of Jilin University, Changchun, China.
Arboviruses currently are regarded as a major worldwide public health concern. The clinical outcomes associated with this group of viruses may vary from asymptomatic infections to severe forms of haemorrhagic fever characterised by bleeding disorders. Similar to other systemic viral infections, arboviruses can either directly or indirectly affect different parts of the body, such as the urogenital system.
View Article and Find Full Text PDFHematology
December 2025
Department of Hematology, The Third People's Hospital of Chengdu, The Affiliated Hospital of Southwest Jiaotong University, Chengdu Second Clinical College of Chongqing Medical University, Chengdu, People's Republic of China.
Objectives: Whether intermediate-dose tertiary prophylaxis can improve quality of life and psychological health in adults with severe/moderate hemophilia A has not been determined. This research aims to explore the impact of intermediate-dose tertiary prophylaxis with recombinant human FVIII (rhFVIII) on quality of life, anxiety and depression in such individuals transitioned from on-demand treatment.
Methods: This retrospective analysis collected data from July 2019 to July 2022.
Introduction: Pseudohypoparathyroidism 1A (PHP1A) is the best-known representative of inactivating PTH/PTHrP signaling disorders (iPPSD). The associated phenotype develops over time and often includes hormonal resistances, short stature and osteoma cutis. More complex and very early manifestations have also been reported.
View Article and Find Full Text PDFXi Bao Yu Fen Zi Mian Yi Xue Za Zhi
January 2025
Hematologic Disease Center, First Affiliated Hospital of Xinjiang Medical University, Xinjiang Uygur Autonomous Region Research Institute of Hematology, Xinjiang Medical University, Urumqi, Xinjiang Uygur Autonomous Region, Wulumuqi 830011, China. *Corresponding author, E-mail:
Objective This study investigated the regulatory effect of high mobility group protein B1 (HMGB1) in the peripheral blood of patients with primary immune thrombocytopenia (ITP) on myeloid dendritic cells (mDC) and Th17/regulatory T cells (Treg) balance. Methods The study enrolled 30 newly diagnosed ITP patients and 30 healthy controls.Flow cytometry was used to measure the proportion of mDC, Th17, and Treg cells in the peripheral blood of ITP patients and healthy controls.
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