What is Hemophilia?

Hemophilia is a bleeding disorder caused by a genetic mutation that prevents the production of proteins in the blood called clotting factors. Clotting factors are proteins that allow the blood to clot after an injury, and without them, people can bleed for longer than normal. 

What Causes Hemophilia? 

Mutations of certain genes cause inherited hemophilia. These genes provide instructions for making proteins needed for blood clotting (coagulation). Defects in these genes reduce or eliminate the activity of crucial clotting factors, leading to bleeding problems. In about 30 percent of cases, no family history of the condition exists before the affected person is born.  

What are the Different Types of Hemophilia? 

There are three main types: A, B, and C. These types are distinguished by the affected specific clotting factor.  

Type A Hemophilia: 

This occurs when your body is missing or has low levels of clotting factor VIII. About 80% of people with hemophilia have Type-A. 

Type B Hemophilia: 

This type occurs when your body is missing or has low levels of clotting factor IX. This type is also called “Christmas Disease” after Stephen Christmas, a patient whose case was first described in 1952. This affects about 15% of patients with hemophilia. 

Type C Hemophilia: 

This type occurs when your body has low levels of clotting factor XI. It’s also known as the Rosenthal Syndrome, named after the doctor who discovered it in 1952. This type accounts for about 5% of cases. 

What are the Symptoms of Hemophilia? 

Symptoms vary based on the type of hemophilia: 

Type A: People with this condition tend to bleed longer than those without it and may have frequent nosebleeds and bleeding gums. They might also get large bruises from little bumps or falls. 

Type B: People with this type tend to bleed faster than those without it, though their bleeding may take longer. They may also bruise easily and bruise an unusually large amount. 

Type C: People with this type tend to bruise easily and have frequent nosebleeds. Their bleeding may take longer to stop than normal people. 

The most serious symptoms include: 

  • Excessive bleeding after an injury, surgery, dental procedure, or internal injury. 
  • Bleeding in the joints (usually knees, ankles, or elbows). 
  • Unusual bleeding after vaccinations. 

If you experience any of these symptoms, you should immediately consult a Hematologist 

What Are the Treatments Available for Hemophilia? 

There are three main treatments for hemophilia: 

1. Factor Replacement Therapy: The patient is given a synthetic version of the missing factor in this treatment. It’s an infusion that should be done at least once per week and is the most common treatment plan. 

2. Desmopressin Acetate Therapy involves taking a tablet or nasal spray to help increase factor VIII levels and limit bleeding events. It’s not as effective as factor replacement therapy, but it can help in some cases. 

3. Gene Therapy: This is still experimental, so it’s not broadly available yet, but researchers are working on using viruses to deliver normal copies of hemophilia genes to patients’ cells to correct the genetic defect. 

Hemophilia is a manageable disease if treated, but heredity and certain diseases can cause it to become serious. People with this condition should always keep an eye on the available treatment methods. If you are concerned you might have this condition or suspect that someone you know does, then it is important to seek treatment as soon as possible. Getting diagnosed is the first step to living with hemophilia and living a normal life.