For Physicians
Pay Your Bill Online
Get ER Appointment
Request Medical Records
Insurance Info
Download App
Careers/Jobs
Contact Us
Review Us
For Physicians
Request Medical Records

#### Hemophilia: Symptoms, Causes, and Treatments

Hemophilia is a group of inherited bleeding disorders that results into an anomalous and excessive bleeding, and poor blood clotting. The bleeding disorder is as a result of the malfunction of the blood vessels, blood platelets or the blood coagulation mechanism. When an infected person is injured or undergoes surgery, they bleed abnormally longer than an uninfected person. People who have this disease most times cannot stop the bleeding on their own. The bleeding can be persistent, and take so much time that it becomes dangerous to the health.

The blood coagulation mechanism is a process where blood is converted from liquid to semi solid, and it requires various clotting factors. This coagulation mechanism produces fibrin when it comes into action, and together with the platelet plug stops the bleeding. When these coagulation factors are not present or insufficient, the blood does not clot properly and the bleeding continues. Patients that have hemophilia have a genetic defect that results into the inadequacy of one the blood clotting factor. Hemophilia has been referred to as the royal disease, because from 1837 to 1901 Queen Victoria the Queen of England was a carrier, her descendants passed the disease to almost all the royal families in Europe through marriage.

Causes of hemophilia

Hemophilia is a disease caused by genetically mutation, which means people with hemophilia were born with it. It is caused by a malfunction in one of the genes that determines how the body makes blood clotting factors VIII or IX. This mutation involves the genes that code for protein that are extremely important in the blood clotting process. The symptoms of bleeding occur because the blood clotting is weakened.

The process of blood clotting involves a number of complicated mechanisms which involve up to 13 different proteins termed factors I to XIII. If the blood vessel lining becomes damaged or cut, blood platelets are mustered to that spot to form a plug. These recruited platelets release chemicals that start the clotting process, activating the thirteen proteins referred to as the clotting factors. Fibrin which is a protein that cross-links itself to form a mesh that produces the final blood clot is formed

The cause for hemophilia A is the mutation in the gene for factor VIII, causing a deficiency in this clotting factor. Hemophilia B is caused by the mutation in the gene for factor IX which results in the deficiency of that same clotting factor. Hemophilia C which is much rarer results as a deficiency in the clotting factor XI, this condition leads to mild symptoms and it affects both sexes. Hemophilia A is the most common form of the disease with 80% of people suffering from hemophilia being hemophilia A, hemophilia B is less common with only 1 in 30000 people likely to suffer from it.

How Hemophilia is inherited

To understand how hemophilia is inherited, it is important to know about chromosomes and how it works. Chromosomes are moulds of DNA, they contain distinct and unique instructions that determines the development of cells in a baby’s body, the baby’s features and also the baby’s gender. The human have 23 pairs of chromosomes including the sex chromosomes which are X and Y. Every human have a pair of chromosomes, the male have the X and Y chromosome, while the female have a pair of X and X chromosomes.

The male inherit the X chromosome from the mother and Y chromosome from the father, while the female inherits the X chromosome from the mother and another X chromosome from the father. In the transfer of hemophilia, the faulty gene is never the Y chromosome, if present it will be on the X chromosome.

- Female X and faulty X chromosomes, but does not have hemophilia because the good X chromosome allows the production of enough blood clotting factors, that prevent the abnormal bleeding problems.
- Male Y and a faulty X chromosome will have hemophilia and pass it on to the other generation.
- If the father has hemophilia and the mother doesn’t have a faulty gene, there will be no risk of hemophilia for the boys because they will only inherit the fathers Y chromosome which isn’t infected and the uninfected mothers chromosome, but all the female children will be carriers, they won’t however have hemophilia because they will also inherit their mothers good X chromosome which will help in deploying blood clotting factors to battle against any abnormal bleeding.
- If the father does not have hemophilia and the mother, there is a 50% chance that the sons will be affected with hemophilia, there is 50% chance the son will inherit the mothers faulty X chromosome and the fathers Y chromosome, this will result to hemophilia, there is also a 50% chance that the son will inherit the mothers good X chromosome and fathers Y chromosome, this child will not have hemophilia. In the same fashion there is 50% chance the daughters will either be carriers or not, but no chance at all of developing hemophilia.

Treatments for hemophilia

Hemophilia treatment depends on the degree of the disease and the people with hemophilia A and B their treatments include clotting factor replacement therapy. There are two approaches to this

- Prophylaxis (Preventative Treatment): These are medications to prevent bleeding and the complications that follow. This treatment is used for people with either mild hemophilia or the severe case of hemophilia.
- On Demand: This is a treatment that is giving to stop bleeding when it occurs. This is used commonly in the management of people with mild cases of hemophilia.

Desmopressin (DDAVP) treatment for mild hemophilia A: This medication employs a synthetic hormone which boosts the body into producing its own factor VIII. It is not used for patients with hemophilia B or those with severe cases of hemophilia A, but for a milder form of hemophilia A the replacement therapy of factor VIII is necessary.

RICE (Rest, Ice, Compression and Elevation): This treatment is a recommended treatment by healthcare professionals for treating joint bleeds, it also reduces tissue damage and swelling when it is used together with clotting factor concentrates.

By SignatureCare ER | Jan 25th, 2018| Categories: Education, Health & Wellness, Pediatric Clinic, Symptoms
Share this useful information with your friends!

##### Related Blog Posts

##### Measles Is Back in Texas—And It’s Worse Than You Think

Jul 10th, 2025

##### Emergency Room Physician Sounds Alarm as Flu Infections Continue to Rise in the U.S.

Feb 13th, 2025

##### Board-Certified Emergency Room Physician Details How Texas Families Can Avoid ER Visits this Winter

Jan 25th, 2024

##### Benefits of Exercise for Chronic Pain Management

Sep 26th, 2023

##### Headache and Migraines: Everything You Should Know

Aug 30th, 2023

##### Paris Back-to-School Bash Draws Over 5,000 Attendees

Aug 11th, 2023

##### SignatureCare ER Breakfast of Champions First Responders Drive-Thru Breakfast

Jun 15th, 2023

##### What is Abdominal Pain?

Feb 13th, 2023

##### Concussion – Causes, Symptoms and When to Get Treatment

Feb 6th, 2023

##### Bleeding in First Trimester

Feb 6th, 2023

- Texarkana, TX
- Odessa, TX
- College Station/Bryan, TX
- Midland, TX
- Killeen, TX
- Frisco, TX (Coming Soon)
- Plano, TX (Coming Soon)

Emergency Room Locations.
Contact Us.
Review Us.
Insurance Info.
Blog.
Scholarship.
Awards.
Notice of Privacy Practices.
Our Stand Against Racism.
Message to Medicare Patients