Genetic bleeding disorders form an important presentation among various genetic disorders occurring in children. A prevalence of 6 per 100,000 population has been reported in India. Bleeding disorders constitute a heterogenous group of disorders with varying clinical presentations. The common bleeding disorders are Hemophilia A and B, von Willebrand disease, and inherited thrombocytopenias. In ...

Hemophilia A is an X-linked recessive hereditary bleeding illness that manifests as increased after moderate trauma and spontaneous bleeding. It caused by a deficiency of the clotting factor VIII (FVIII). We report video assisted-thoracoscopy in 48-year-old patient with A. shouldn't be barrier to invasive surgery, but there are few conditions must met ensure straightforward intraoperative posto...

BACKGROUND Mutations in endoglin or activin like kinase-1, both involved in the endothelial transforming growth factor-beta signaling pathway, cause the autosomal dominant bleeding disorder hereditary hemorrhagic telangiectasia. We and others have reported mouse models for this disease that share the characteristic phenotype of dilated vessels and sporadic hemorrhage. The reasons for the variab...

Von Willebrand disease (VWD), is the most common hereditary bleeding disorder (HBD) and affects approximately 1–2% of population. Type 1 accounts for 70–80% all cases involves partially reduced levels functional VWF. It usually manifested by mild to moderate mucocutaneous bleeding. A 63-yearold patient with multivessel coronary artery diagnosed Willebrand’s type after a previous NSTEMI infarcti...

We have discovered a novel canine hereditary bleeding disorder with the characteristic features of Scott syndrome, a rare defect of platelet procoagulant activity. Affected dogs were from a single, inbred colony and experienced clinical signs of epistaxis, hyphema, intramuscular hematoma, and prolonged bleeding with cutaneous bruising after surgery. The hemostatic abnormalities identified were ...

A B S T R A C T “Addiction” is a multifaceted complicated disorder with many interrelated causes, as well as environmental and genetic features. Several hereditary variables that have an effect on these features might work in together to influence vulnerability and the extent of being an addict. Molecular re-sequencing of the latest and formerly researched genes holds a crucial place with regar...

Hemophilia is a common hereditary coagulation blood disorder due to the deficiency activity of clotting factors. divided into two, namely hemophilia A and B. Among all treatments, standard half-life (SHL) extended (EHL) factor replacement products are most commonly used. This study aimed review real-world evidence on comparison SHL EHL. literature search was conducted in PubMed google scholar p...

In this study, we describe a novel thrombomodulin (TM) mutation (c.1611C>A) that codes for a change from cysteine 537 to a premature stop codon (p.Cys537Stop). Three members of a family with a history of posttraumatic bleeding were identified to be heterozygous for this TM mutation. All coagulation screening tests, coagulation factor assays, and platelet function test results were within normal...