Symptoma

Severe Hemophilia A

Severe Factor VIII Deficiency

OBJECTIVES: This article presents a cost-utility analysis from the Colombian health system perspective comparing primary prophylaxis to on-demand treatment using exogenous clotting factor VIII (FVIII) for patients with severe hemophilia type A. [ncbi.nlm.nih.gov]

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]

Blood products for haemophilia: Past, present and future. BioDrugs. 2004 ; 18 : 225 – 234. 6. Nilsson, IM, Berntorp, E, Löfqvist, T, Pettersson, H. Twenty-five years' experience of prophylactic treatment in severe haemophilia A and B. [cambridge.org]

This information helps to confirm a diagnosis of hemophilia and identifies the type and severity of hemophilia present. [healthofchildren.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]

  • Developmental Disabilities

    Box 30105 Bethesda, MD 20824-0105 Phone: 1- 301 - 592-8573 Web Address: CDC National Center on Birth Defects & Developmental Disabilities, Blood Disorders 1600 Clifton Rd Atlanta, GA 30333 Phone: 1- 800 - 232-4636 Web Address: Care Agreement You have [drugs.com]

    Michael Soucie (Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention) for repeating the analyses. [nejm.org]

  • Crying

    I remember crying buckets of tears, grieving the loss of what we thought would be a “normal” childhood for our boy. [texaschildrens.org]

  • Dyspnea

    […] irritability, and spinal cord syndromes Gastrointestinal: Hematemesis, melena, frank red blood per rectum, and abdominal pain Genitourinary: Hematuria, renal colic, and post circumcision bleeding Other: Epistaxis, oral mucosal hemorrhage, hemoptysis, dyspnea [emedicine.medscape.com]

  • Sweating

    I was scared to death the first time I attempted to put a needle into my two year old's vein — my hands were sweating and slippery with nerves. I am no nurse and even get lightheaded when my own blood is drawn. [texaschildrens.org]

  • Grieving

    I remember crying buckets of tears, grieving the loss of what we thought would be a “normal” childhood for our boy. [texaschildrens.org]

  • Type A Personality

    I have a “Type A” personality — I like be in the driver’s seat of a situation. Unfortunately, there was nothing about hemophilia I could control. [texaschildrens.org]

  • Forgetful

    We just want to sparkle some joy to them, and just do something that makes them forget about what they're going through, even if it's for a moment. [yourohiovalley.com]

    […] activity to what it was prior to the bleed Measure progress by keeping a journal DO NOT: Exercise a joint during an active bleed Return to a sport/activity following a bleed without discussing it with your hemophilia treatment center (HTC) or hematologist Forget [rarebleedingdisorders.com]

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]

OBJECTIVES: This article presents a cost-utility analysis from the Colombian health system perspective comparing primary prophylaxis to on-demand treatment using exogenous clotting factor VIII (FVIII) for patients with severe hemophilia type A. [ncbi.nlm.nih.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]

This treatment is not always effective. The inhibitor persists in about 1 in 5 patients who undergo ITI. [clinicaltrials.gov]

[…] with respect to family history of hemophilia and inhibitors, history of switching among product brands, peak treatment episodes (defined as treatment with factor VIII for bleeding or for surgery on either 3 consecutive days or 5 consecutive days), a [nejm.org]

[…] 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]

Expectations (prognosis) The outcome is usually good with treatment. Most people with hemophilia are able to lead relatively normal lives. [medicalmarijuana.com]

Prognosis Prognosis is very difficult to generalize. [encyclopedia.com]

: 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]

Etiology Hemophilia A is caused by mutations in the F8 gene (Xq28) encoding coagulation factor VIII. [orpha.net]

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]

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]

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]

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]

Epidemiology The prevalence of vWD is about 1 in 100 individuals. However the majority of these people do not have symptoms. The prevalence of clinically significant cases is 1 per 10,000. [hemacareplus.com]

The epidemiology of inhibitors in hemophilia A: a systematic review. Haemophilia. 2003;9:418–35. View Article PubMed Google Scholar Franchini M, Mannucci PM. [bmchealthservres.biomedcentral.com]

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]

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]

However, a final decision on providing or preventing patients from primary prophylaxis as a gold standard of care for severe hemophilia type A should also consider broader criteria than the incremental cost-effectiveness ratio results itself. [ncbi.nlm.nih.gov]

The presence of Factor VIII (FVIII) inhibitor prevents FVIII infusions from working properly and makes treatment of bleeding episodes very difficult. Having an inhibitor is a serious and life-threatening complication in patients with Hemophilia. [clinicaltrials.gov]

Joint outcomes in patients with haemophilia: The importance of adherence to preventive regimens. Haemophilia. 2009 ; 15 : 1219 – 1227. 10. Miners, AH. [cambridge.org]

Donald Yee, would recommend Drew start a prophylaxis treatment to prevent these spontaneous bleeds. I knew that decision was coming soon, it was the necessary route to keep Drew healthy, but I was not prepared. [texaschildrens.org]

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]