Hemophilia

(Hemophilia A—Factor VIII Deficiency; Classic Hemophilia; Hemophilia B—Factor IX Deficiency; Christmas Disease)

How to Say It: He-moe-feel-ee-uh

Definition

Hemophilia is a group of bleeding disorders. Blood clotting factors are needed to stop bleeding. They are low or missing in people with hemophilia.

The most common types are:

  • Hemophilia A (classic hemophilia)—caused by too little or no factor VIII (most common)
  • Hemophilia B (Christmas disease)—happens in males, caused by too little or no factor IX

Causes

A faulty gene on a certain DNA strand causes hemophilia. Females carry 2 copies of the strand. If one is faulty, the other one takes over. The faulty gene can pass to their children. If so, the female child will carry the gene. If it passes to the male, they will get the disease because they carry one copy of the strand.

It is possible for a female to get the disease. They would have to get the faulty gene from both parents.

Genetic Outcome Possibilities
Fetus Chromosomes

Copyright © Nucleus Medical Media, Inc.

Risk Factors

Hemophilia is more common in males. The risk is higher in people who have family members who have it.

Symptoms

Symptoms differ based on severity. Bleeding is the main issue. It is often related to an injury or surgery.

Common problems are:

  • Easy bruising
  • Repeated nosebleeds
  • Blood in the urine
  • Blood in the stool
  • Heavy bleeding after minor cuts or bumps
  • Bleeding after dental work or surgery
  • Heavy periods in women

Diagnosis

The doctor will ask about your symptoms and health history. A physical exam will be done. This may point to hemophilia.

Blood tests may also be done to see how well the blood clots. These tests will also look for low or missing clotting factors.

Treatment

The goal of treatment is to help the blood clot properly. Choices are:

  • Blood factor injections to replace the factor that is missing
  • Medicine to cause blood factor in the blood vessels to release
  • Lifestyle changes to lower the risk of bleeding, such as taking steps to avoid injury

Prevention

There are no known guidelines to prevent this problem.

RESOURCES:

American Society of Hematology
http://www.hematology.org

National Hemophilia Foundation
https://www.hemophilia.org

CANADIAN RESOURCES

Canadian Hemophilia Society
http://www.hemophilia.ca

Caring for Kids—Canadian Paediatric Society
https://www.caringforkids.cps.ca

REFERENCES:

Hemophilia A. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/hemophilia-a. Accessed October 23, 2020.

Hemophilia B. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/hemophilia-b. Accessed October 23, 2020.

Bleeding disorders. National Heart, Lung, and Blood Institute website. Available at: https://www.nhlbi.nih.gov/health-topics/bleeding-disorders. Accessed October 23, 2020.

Konkle BA, Josephson NC, Nakaya Fletcher S. Hemophilia B GeneReviews 2014 Jun 5.

Last reviewed September 2020 by EBSCO Medical Review Board Daniel A. Ostrovsky, MD  Last Updated: 10/23/2020