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Hemophilia A: Protein structure of coagulation factor VIII, of which its deficiency is the cause of haemophilia A. Specialty: Haematology: Symptoms: Prolonged bleeding from common injuries [1] Causes: Factor VIII deficiency [2] Diagnostic method: Bleeding time, [2] coagulation screen, genetic testing: Prevention: Hepatitis B vaccine should be ...
Haemophilia (British English), or hemophilia (American English) [6] (from Ancient Greek αἷμα (haîma) 'blood' and φιλία (philía) 'love of'), [7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.
Acquired haemophilia A (AHA) is a rare but potentially life-threatening bleeding disorder characterized by autoantibodies directed against coagulation factor VIII.These autoantibodies constitute the most common spontaneous inhibitor to any coagulation factor and may induce spontaneous bleeding in patients with no previous history of a bleeding disorder.
No living member of the present or past reigning dynasties of Europe is known to have symptoms of haemophilia or is believed to carry the gene for it. The last descendant of Victoria known to have the disease was Infante Gonzalo, born in 1914, although hundreds of descendants of Queen Victoria's (including males descended only through females ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Idiopathic thrombocytopenic purpura (ITP) is the condition of having a low platelet count (thrombocytopenia) of no known cause . Recurrent thrombosis: Hemophilia: Hemophilia A: Hemophilia B: Hemophilia C: Von Willebrand disease: Antiphospholipid syndrome: Thrombocytopenia: Glanzmann's thrombasthenia: Wiskott–Aldrich syndrome
2157 14069 Ensembl ENSG00000185010 ENSMUSG00000031196 UniProt P00451 Q06194 RefSeq (mRNA) NM_000132 NM_019863 NM_001161373 NM_001161374 NM_007977 RefSeq (protein) NP_000123 NP_063916 NP_001154845 NP_001154846 NP_032003 Location (UCSC) Chr X: 154.84 – 155.03 Mb Chr X: 74.22 – 74.43 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Coagulation factor VIII (Factor VIII, FVIII, also ...
Deficiencies of coagulation factors are associated with clinical bleeding. For instance, deficiency of Factor VIII causes classic hemophilia A while deficiencies of Factor IX cause "Christmas disease"(hemophilia B). Antibodies to Factor VIII can also inactivate the Factor VII and precipitate bleeding that is very difficult to control.