Navigate Up

Women's Center - A-Z Index

#
Y

Print This Page

Hemophilia A

Hemophilia A is a hereditary bleeding disorder caused by a lack of blood clotting factor VIII. Without enough factor VIII, the blood cannot clot properly to stop bleeding.

Alternative Names

Factor VIII deficiency

Causes

Hemophilia A is caused by an inherited X-linked recessive trait, with the defective gene located on the X chromosome. Females have two copies of the X chromosome. So if the factor VIII gene on one chromosome does not work, the gene on the other chromosome can do the job of making enough factor VIII.

Males have only one X chromosome. If the factor VIII gene is missing on a boy's X chromosome, he will have hemophilia A. For this reason, most people with hemophilia A are male.

If a woman has a defective factor VIII gene, she is considered a carrier. This means the defective gene can be passed down to her children. Boys born to such women have a 50% chance of having hemophilia A. Their daughters have a 50% chance of being a carrier. All female children of men with hemophilia carry the defective gene. Risk factors for hemophilia A include:

  • Family history of bleeding
  • Being male

Symptoms

The severity of symptoms vary. Bleeding is the main symptom of the disease. It is often first seen when an infant is circumcised. Other bleeding problems are seen when the infant starts crawling and walking.

Mild cases may go unnoticed until later in life. Symptoms may first occur after surgery or injury. Internal bleeding may occur anywhere.

Symptoms can include:

  • Bleeding into joints with associated pain and swelling
  • Blood in the urine or stool
  • Bruising
  • Gastrointestinal tract and urinary tract hemorrhage
  • Nosebleeds
  • Prolonged bleeding from cuts, tooth extraction, and surgery
  • Spontaneous bleeding

Exams and Tests

If you are the first person in the family to have a suspected bleeding disorder, your doctor will order a series of tests called a coagulation study. Once the specific defect has been identified, other people in your family will need tests to diagnose the disorder.

Tests to diagnose hemophilia A include:

Treatment

Treatment includes replacing the missing clotting factor. You will receive factor IX concentrates. How much you get depends on:

  • Severity of bleeding
  • Site of bleeding
  • Your weight and height

Mild hemophilia may be treated with desmopressin (DDAVP), which helps the body release factor VIII that is stored within the lining of blood vessels.

To prevent a bleeding crisis, people with hemophilia and their families can be taught to give factor VIII concentrates at home at the first signs of bleeding. People with severe forms of the disease may need regular preventive treatment.

Depending on the severity of the disease, DDAVP or factor VIII concentrate may be given before having dental extractions or surgery in order to prevent bleeding.

You should get the hepatitis B vaccine. People with hemophilia are more likely to get hepatitis because they may receive blood products. Patients who develop an inhibitor to factor VIII may require treatment with other clotting factors such as factor VIIa, which can help with clotting, even without any factor VIII.

Support Groups

You can ease the stress of illness by joining a hemophilia support group. Sharing with others who have common experiences and problems can help you not feel alone.

Outlook (Prognosis)

With treatment, most people with hemophilia are able to lead a relatively normal life.

If you have hemophilia, you should have regular checkups with a hematologist.

Possible Complications

Complications can include:

  • Long-term joint problems, which may require a joint replacement
  • Bleeding in the brain (intracerebral hemorrhage)
  • Thrombosis due to treatment

When to Contact a Medical Professional

Call your health care provider if:

  • Symptoms of a bleeding disorder develops
  • A family member has been diagnosed with hemophilia A
  • You have hemophilia A and you plan to have children; genetic counseling is available

Prevention

  • Genetic counseling may be recommended. Testing can identify women and girls who carry the hemophilia gene.
  • Testing can be done during pregancy on a baby that is in the mother's womb.

References

Carcao M, Moorehead P, Lillicrap D. Hemophilia A and B. In: Hoffman R, Benz EJ Jr, Silberstein LE, et al., eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, Pa: Elsevier Saunders; 2012:chap 137.

Scott JP, Montgomer RR. Hereditary clotting factor deficiencies (bleeding disorders). In: Kliegman RM, Stanton BF, St. Geme JW III, et al., eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 470.

Updated: 2/24/2014

Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.


©  UPMC | Affiliated with the University of Pittsburgh Schools of the Health Sciences
Supplemental content provided by A.D.A.M. Health Solutions. All rights reserved.

For help in finding a doctor or health service that suits your needs, call the UPMC Referral Service at 412-647-UPMC (8762) or 1-800-533-UPMC (8762). Select option 1.

UPMC is an equal opportunity employer. UPMC policy prohibits discrimination or harassment on the basis of race, color, religion, ancestry, national origin, age, sex, genetics, sexual orientation, marital status, familial status, disability, veteran status, or any other legally protected group status. Further, UPMC will continue to support and promote equal employment opportunity, human dignity, and racial, ethnic, and cultural diversity. This policy applies to admissions, employment, and access to and treatment in UPMC programs and activities. This commitment is made by UPMC in accordance with federal, state, and/or local laws and regulations.

Medical information made available on UPMC.com is not intended to be used as a substitute for professional medical advice, diagnosis, or treatment. You should not rely entirely on this information for your health care needs. Ask your own doctor or health care provider any specific medical questions that you have. Further, UPMC.com is not a tool to be used in the case of an emergency. If an emergency arises, you should seek appropriate emergency medical services.

For UPMC Mercy Patients: As a Catholic hospital, UPMC Mercy abides by the Ethical and Religious Directives for Catholic Health Care Services, as determined by the United States Conference of Catholic Bishops. As such, UPMC Mercy neither endorses nor provides medical practices and/or procedures that contradict the moral teachings of the Roman Catholic Church.

© UPMC
Pittsburgh, PA, USA UPMC.com