Hemophilia A screening

Revision as of 03:11, 7 May 2017 by Fahd Yunus (talk | contribs)
Jump to navigation Jump to search

Hemophilia A Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Hemophilia A from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Hemophilia A screening On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Hemophilia A screening

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Hemophilia A screening

CDC on Hemophilia A screening

Hemophilia A screening in the news

Blogs on Hemophilia A screening

Directions to Hospitals Treating Hemophilia A

Risk calculators and risk factors for Hemophilia A screening

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Fahd Yunus, M.D. [2]

Overview

Screening for hemophilia A revolves around obtaining a thorough family history of bleeding.

Screening

Any individual with family history of excessive bleeding following trauma or surgery, or unexplained deaths in first degree relatives (usually males), should speak with a physician to discuss if hemophilia A may potentially have been a cause[1]

  • Parents who either have hemophilia A or are known carriers of the disease should speak to a genetic specialist regarding the risks and benefits of prenatal testing.[2]
  • Chorionic villus sampling (CVS) may be performed between weeks 11-12 of gestation in women who are known carriers of the hemophilia gene to determine if their offspring have the disease
  • In some instances, assisted reproductive technology may allow women who are carriers of the disease to obtain “preimplantation diagnosis”. In this case, the embryos would be removed and fertilized by semen in a laboratory. They would then be tested for the presence of the hemophilia gene, and only embryos without the disorder would be reimplanted into the womb. The ethics of this approach remain open for debate, and as such this approach remains controversial[3]

References

  1. Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia A. 2000 Sep 21 [Updated 2014 Jun 5]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: http://www-ncbi-nlm-nih-gov.laneproxy.stanford.edu/books/NBK1404/
  2. Carriers: When to test for carrier status [EN] – World Federation of Hemophilia. Available at http://www.wfh.org/en/abd/carriers/carriers-when-to-test-for-carrier-status-en. Accessed on Sept 20, 2016
  3. Carriers: Prenatal Diagnosis [EN] – World Federation of Hemophilia. Available at http://www.wfh.org/en/abd/carriers/carriers-prenatal-diagnosis-en. Accessed on Sept 20, 2016

Template:WH Template:WS