Presentation
This information helps to confirm a diagnosis of hemophilia and identifies the type and severity of hemophilia present. [healthofchildren.com]
In order for fibrin to form, all thirteen clotting factors must be present in the blood. [encyclopedia.com]
In Utero Testing In utero genetic testing (third-trimester amniocentesis) can be performed to determine whether hemophilia is present in male fetuses. [arupconsult.com]
Notify Haematology Inpatient Registrar (pager 5030) of children presenting to Emergency between 0900-1700hrs, Monday to Friday. Notify Haematologist on call of children presenting after hours with a suspected bleed or requiring a procedure. [rch.org.au]
Forty-two of 100 severely affected patients presented factor VIII gene rearrangements. Of these patients, 36 exhibited the distal type of inversion, and 6 exhibited the proximal type. No other variant type of recombination was observed. [link.springer.com]
Workup
Inhibitor concentration is titrated using the Bethesda method, as follows: Positive result: ≥ 0.6 Bethesda units (BU) Low-titer inhibitor: ≤5 BU High-titer inhibitor: >5 BU See Workup for more detail. [emedicine.medscape.com]
Treatment
This treatment is not always effective. The inhibitor persists in about 1 in 5 patients who undergo ITI. [clinicaltrials.gov]
Treatment for life for severe haemophilia A- A cost-utility model for prophylaxis vs. on-demand treatment. Haemophilia. 2013 ; 19 : e228 –e238. 26. Lusher, JM. Haemophilia treatment. [cambridge.org]
Specific hemophilia treatment is determined by the type and severity of hemophilia, age of child, and individual factors. Treatment decisions are made by the treatment team together with the patient and family. [chop.edu]
[…] haemophilia treatment centre or associated on call haematologist. [rch.org.au]
Prognosis
[…] prospective, controlled, randomized, open label study, aimed at comparing FVIII/VWF concentrates with FVIII concentrates at 200 IU/kg daily in their ability to induce immune tolerance in Haemophilia A patients with high responding inhibitors and poor prognosis [clinicaltrials.gov]
Prognosis Variations in the type and severity of hemophilia makes it difficult to generalize a prognosis, however, for individuals with mild hemophilia, the prognosis is quite good. [healthofchildren.com]
If cases with known viral infections were excluded, the life expectancy was 72, close to that of the general population. 26% of the cases died from AIDS and 22% from hepatitis C. [24] However, these statistics for prognosis are unreliable as there has [en.wikipedia.org]
Prognosis Prognosis is very difficult to generalize. [encyclopedia.com]
Etiology
Etiology Hemophilia A is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII. [orpha.net]
: Etiology, complications, and current options in management. Formulary. 2010 ; 45 : 218 – 227. 2. White, GC, Rosendaal, F, Aledort, LM, et al. Factor VIII and Factor IX Subcommittee. Definitions in haemophilia. [cambridge.org]
High titers of FVIII autoantibodies may be associated with lymphoproliferative malignancies. [13] Etiology Hemophilia A is caused by an inherited or acquired genetic mutation that results in dysfunction or deficiency of factor VIII, or by an acquired [emedicine.medscape.com]
Epidemiology
Keywords Blotting, Southern — Chromosome Inversion — Crossing Over, Genetic — Factor VIII/ genetics/immunology — Female — Genes — Hemophilia A/epidemiology/ genetics/immunology — Heterozygote — Humans — Isoantibodies/biosynthesis/immunology — Male — Models [archive-ouverte.unige.ch]
Summary Epidemiology Prevalence is estimated at around 1 in 6,000 males. Hemophilia primarily affects males, but a symptomatic form of hemophilia A in female carriers (see this term) has also been described with a generally milder clinical picture. [orpha.net]
Inconsistency of association between type 1 von Willebrand disease phenotype and genotype in families identified in an epidemiological investigation. Thromb Haemost. 1999;82:1065-1070. [pharmacytimes.com]
The epidemiology of inhibitors in haemophilia A: a systematic review. Haemophilia 2003 ;9: 418 - 435 22. Iorio A, Halimeh S, Holzhauer S, et al. [nejm.org]
[…] cases died from AIDS and 22% from hepatitis C. [24] However, these statistics for prognosis are unreliable as there has been marked improvement of infection control and efficacy of anti-retroviral drugs since these studies were done. [ citation needed ] Epidemiology [en.wikipedia.org]
Pathophysiology
The following algorithms are available in Special Instructions: -Hemophilia Carrier Testing Algorithm -Hemophilia Testing Algorithm Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory [mayomedicallaboratories.com]
"Acquired Factor VIII Inhibitors: Pathophysiology and Treatment". ASH Education Program Book. 2006 (1): 432–437. doi : 10.1182/asheducation-2006.1.432. ISSN 1520-4391. PMID 17124095. ^ Nair, Preethi S.; Shetty, S.; Ghosh, Kanjaksha (2012-01-01). [en.wikipedia.org]
Pathophysiology Factor VIII production, processing, and structure Primary sites of factor VIII (FVIII) production are thought to be the vascular endothelium in the liver and the reticuloendothelial system. [emedicine.medscape.com]
Prevention
You usually need long-term or shorter term preventive therapy to prevent bleeding that could cause permanent damage to your joints, muscles, or other parts of the body. [daviddarling.info]
The goal of hemophilia treatment is preventing bleeding complications (primarily head and joint bleeds) parents can prevent bleeding complications by: Purchasing soft toys with rounded corners for young children. [childrensnational.org]
Treatment for hemophilia is aimed at prevention of bleeding complications (primarily head and joint bleeds). [stanfordchildrens.org]
You may have replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. [specialtycme.org]
Early treatment is important to prevent complications. [chop.edu]