Hemophilia: A Practical Approach to Genetic Testing
- Spectrum of Inherited Bleeding Disorders in Indians. Gupta, Meenal; Bhattacharyya, Maitreyee; Choudhry, V. P.; Saxena, Renu // Clinical & Applied Thrombosis/Hemostasis;Jul2005, Vol. 11 Issue 3, p325
The incidence of hereditary hemorrhagic disorders may vary according to the country and ethnic origin. Von Willebrand disease has emerged as the most common hereditary hemorrhagic disease in the industrialized world. In this series of 966 patients diagnosed to have inherited bleeding disorders,...
- Recombinant factor VIIa use in patients with the rarest forms of inherited coagulation-factor deficiencies: a study of cases from the www.haemostasis.com registry. Smejkal, P.; Hassan, M.; Ingerslev, J. // Comparative Clinical Pathology;Dec2006, Vol. 15 Issue 4, p203
Rare inherited coagulation disorders (RICDs) with a prevalence of â‰¤1/1,000,000 include deficiencies in factor II, factor V, combined factor V/factor VIII, factor X, factor XI and factor XIII. These abnormalities are associated with spontaneous haemorrhage and excessive bleeding after...
- von Willebrand's disease. // Taber's Cyclopedic Medical Dictionary (2009);2009, Issue 21, p2480
An encyclopedia entry for "von Willebrand's disease," which refers to a congenital bleeding disorder caused by either the mismanufacture of or a deficiency of a protein that helps platelets stick to injured blood vessels during the formation of blood clots, is presented.
- Cryoprecipitate Transfusion in Variant von Willebrand's Disease and Thrombocytopenia. Krizek, Dennis M.; Rick, Margaret E.; Williams, Sybil B.; Gralnick, Harvey R. // Annals of Internal Medicine;Apr83, Vol. 98 Issue 4, p484
Presents case studies of patients with different types of von Willebrand's disease. Medical history of the patients; Results of laboratory examinations; Outcome of treatments.
- Type IIB von Willebrand's Disease: Unusual Response to Cryoprecipitate Infusion. Weinger, Ronald S.; Cimo, Philip L.; Moake, Joel L.; Olson, John D.; Heller, Michael S. // Annals of Internal Medicine;Jan81, Vol. 94 Issue 1, p47
Presents the case of a 16-year-old boy with von Willetrand's disease, a congenital bleeding disorder resulting from quantitative or qualitative defects of the factor VIII molecular complex. Background of the disease; Symptoms; Medical history of the patient.
- Bleeding and Bruising. // American Medical Association Family Medical Guide;2004, p617
The article focuses on the various types of bleeding disorder in human body. Hemophilia, an inherited type of disorder, is a condition in which the body does not produce an adequate supply of a protein called antihemophilic globulin that is essential for proper blood clotting. Von Willebrand's...
- A 2-Year-Old Boy With a Hereditary Bleeding Disorder. Schinstine, Malcolm; Robert, Donna // Archives of Pathology & Laboratory Medicine;Jun2003, Vol. 127 Issue 6, p752
Provides information on a boy with a hereditary bleeding disorder. Main categories of inherited von Willebrand disease; Subtypes of von Willebrand disease; Tests that can confirm the diagnosis of von Willebrand disease.
- MALADIA VON WILLEBRAND. Popescu, Valeriu; Zamfirescu, Andrei // Romanian Journal of Pediatrics;2009, Vol. 58 Issue 4, p349
Described by Erik Adolf von Willebrand in 1926, it is a constitutional hemorrhagic disease, inherited in the autosomal mode. Considered initially as a thrombopathic disease, then as a prologation of the bleeding time associated to a deficit in the factor VIII, today it is defined as an absence,...
- Compound heterozygous hemophilia A in a female patient and the identification of a novel missense mutation, p.Met1093Ile. SHU-KAI QIAO; HAN-YUN REN; JIN-HAI REN; XIAO-NAN GUO // Molecular Medicine Reports;2014, Vol. 9 Issue 2, p466
Hemophilia A (HA) in females is rare. Female HA cases are often misdiagnosed as acquired HA (AHA) or as von Willebrand disease type 2N (vWD-2N). Here, we report the case of a 37-year-old female HA patient with a moderate factor VIII (FVIII) deficiency. The patient had no personal or family...