Hemophilia B is a recessive bleeding disorder resulting from mutations in the coagulation factor IX gene. As this disease is characterized by clinical and molecular heterogeneity, the building of relationship between its genotype and phenotype would be great helpful for better diagnosis, prognosis and treatment. We use a descriptively probabilistic method, cross-impact analysis, to couple the c...

An X-chromosomal predisposing locus to manic-depressive illness has been suggested since 1969 on the basis of the cosegregation of this trait in some families with phenotypic markers, such as color blindness, the glucose-6-phosphate dehydrogenase deficiency, and the coagulation factor IX deficiency. However, the conclusive evidence and the exact location of the putative X-chromosomal locus have...

Malignancy is a common cause of disseminated intravascular coagulation and usually presents as a chronic disorder in solid organ tumours. We present a rare case of recurrent acute disseminated intravascular coagulation in neuroendocrine carcinoma after manipulation, firstly, by core biopsy and, later, by cytotoxic therapy causing a release of procoagulants and cytokines from lysed tumour cells....

Background: Congenital factor XIII (FXIII) deficiency is one of the rarest bleeding disorders with a prevalence of one per 2 million in the general population. The disorder is accompanied by a high rate of life-threatening bleeding. Due to normal results of routine coagulation tests, diagnosis of the disorder is challenging, but molecular methods can be used for precise diagnosis. Direct mutati...

FX is a vitamin K-dependent coagulation protease critically essential for the coagulation cascade. FXD (congenital deficiency of factor X) is a rare coagulation disorder that inherited as an autosomal recessive trait. Here we reported a patient with bleeding diathesis from infant. The proband with pseudotumor in cerebral articular and cavity were identified as encapsulated hematocele ultimately...

The development of a purpura-fulminans-like disorder which is a human equivalent of a local Shwartzman reaction in a woman with active chronic hepatitis is described. The cyclical appearance of blue-black, well circumscribed, haemorrhagic, acutely painful lesions in the buttocks, over the lateral aspects of the thighs, and on the arms suggested the diagnosis. Evidence of increased intravascular...

Hemophilia A is a worldwide disorder of coagulation system. It is a male disorder, yet females with hemophilia are rarely seen in communities with high rate of consanguineous marriages. The abnormalities in factor VIII gene transfer as an X-linked pattern in the family, affects as many as one-third of patients who had no family history of abnormality and thus the occurrence of a sporadic mutati...

Severe trauma-related bleeding is associated with high mortality. Standard coagulation tests provide limited information on the underlying coagulation disorder. Whole-blood viscoelastic tests such as rotational thromboelastometry or thrombelastography offer a more comprehensive insight into the coagulation process in trauma. The results are available within minutes and they provide information ...

Factor X deficiency is a rare hereditary coagulation disorder. We report a case of congenital factor X deficiency diagnosed preoperatively in an 8-yr-old female child scheduled to undergo corrective surgery for congenital thoracolumbar kyphoscoliosis. Her preoperative coagulation profile revealed prolonged prothrombin time and activated partial thromboplastin time values. Further evaluation sho...

Coagulation factors belong to a family of plasma glycosylated proteins that should be activated for appropriate blood coagulation. Congenital deficiencies of these factors cause inheritable hemorrhagic diseases. Factor VII (FVII) deficiency is a rare bleeding disorder with variable clinical symptoms. Various mutations have been identified throughout the F7 gene and can affect all the protein do...