background: the most common polymorphisms identified in the methylenetetrahydrofolate reductase (mthfr) gene, c677t and a1298c lead to defective activity of this enzyme and increase the risk of venous and arterial thrombosis. there are limited investigations regarding the effects of thrombogenic polymorphisms on the clinical phenotypes of rare hereditary hemorrhagic disorders like glanzmann's t...

introduction: the prevalence of rare bleeding disorders, including combined factor v+viii deficiency are higher in iran than in developed countries. there are only a few reports which have been written concerning kidney transplantation in the patients suffering from these disorders. case report: a 22-year old girl, with a known case of combined factor v+viii deficiency, a history of bladder sto...

Hereditary thrombocytopenias are rare bleeding disorders, which cause a deficiency of platelets in early infancy. This group of disorders is sometimes associated with abnormal phenotypes, like absence of radius. Diagnosis of this type of thrombocytopenia is usually difficult; other causes of thrombocytopenia, such as immune disorders and infections, must be ruled out. The symptoms of hereditary...

Hereditary angioedema is a rare, but potentially life-threatening genetic disorder that results from an autosomal dominant trait. It is characterized by acute, recurrent attacks of severe local edema, most commonly affecting the skin and mucosa. Swelling in hereditary angioedema patients does however not always have to be caused by angioedema but can relate to other concomitant disorders. In th...

Objective: The incidence and range of rare hereditary bleeding diseases, as well the severity deficiency its many clinical presentations, were subjects our study. Study Design: Cross-sectional study Place Duration: Department Pathology, Northwest School Medicine Peshawar in duration from July, 2022 to December, 2022. Methods: Total 850 cases coagulation disorders presented this A thorough demog...

Hemophilia A is a X-linked hereditary condition that lead to decreased factor VIII activity, occurs mainly in males. Decreased factor VIII activity leads to increased risk of bleeding events. During neonatal period, diagnosis is made after post-partum bleeding complication or unexpected bleeding after medical procedures. Subgaleal hemorrhage during neonatal period is a rare, severe extracranial...

During the haemostatic response, the formation of a primary platelet plug limits bleeding and provides a surface for clotting factors to assemble and become activated. The initial platelet plug is stabilized by fibrin monomers, covalently cross-linked by FXIII, forming a platelets-fibrin thrombus. Defects in platelets as well as inherited deficiencies of coagulation factors including fibrinogen...