What is Hemophilia? Know The Causes, Types, Symptoms and Treatment

Hemophilia is an uncommon condition in which the blood doesn't clot properly. Men are mostly affected by it. Proteins called clotting factors work with platelets in order to stop bleeding at the place of an injury.

People with hemophilia usually produce lower amounts of either Factor VIII or Factor IX than those without the condition. As a result, the person tends to bleed for a longer duration after an injury and is more susceptible to internal bleeding. Further, this bleeding can be fatal if it occurs within vital organs such as the brain.

Currently, there around 70,000 people in India who are living with Hemophilia.

Hemophilia Causes

In this condition, the blood doesn't clot as it should. Moreover, hemophilia is an inherited disorder. It typically happens because of a defect in one of the clotting genes in the X chromosome.

Hemophilia is evident in males since the gene can be passed from mother to son. Males lack a second X chromosome, so they are unable to make up for the defective gene. 

Females may be carriers of hemophilia; however, they are unlikely to have this disorder. For a girl to have hemophilia, she must have the strange gene on both of her X chromosomes, but this is very rare. 

von Willebrand Disease

von Willebrand disease is another genetic bleeding disorder in which patients are prone to frequent bleeding like bleeding gums, nosebleeds, and excessive menstrual periods. 

Unlike hemophilia, vWD affects men and women equally. However, the severity of vWD depends on the level of blood proteins—the lower the level, the more severe the bleeding. 

Hemophilia Types

There are mainly three types of hemophilia, type A, type B, and type C. 

In type A, there is a lack of clotting factor VIII. In Type B, also known as Christmas disease, there is a lack of clotting factor IX. Both A and B can be mild to severe, depending on the blood clotting factor. 

Type C hemophilia occurs when there is a lack of clotting factor XI. Unlike type A and B, continuous bleeding or bleeding in joints doesn't happen unless there's an underlying joint disease. A person with hemophilia C will experience extended bleeding after surgery, trauma, and even dental procedures. Further, men and women are both equally affected by hemophilia type C. 

Signs and Symptoms 

Common signs and symptoms of hemophilia include: 

• Joint bleeding, which causes swelling and pain or tightness in the joints (often elbows, ankles, and knees)
• Skin bleeding (bruising) or into a muscle or soft skin, causing an accumulation of blood (hematoma)
• Mouth and gums bleeding and difficulty to stop bleeding after losing a tooth.
• Bleeding after having shots or vaccines
• Blood in urine or stool
• Frequent nosebleeds that are difficult to stop. 

Diagnosis Of Hemophilia

Ideally, testing is outlined before the baby's birth so that a blood sample can be drawn from the umbilical cord. Umbilical cord blood testing is better at discovering low levels of factor VIII than finding low levels of factor IX. This is because factor IX levels are not normalized until a baby is at least 6 months old. 

Usually, two types of tests are done for diagnosis: screening test and clotting factor test. 

Screening Tests

These are blood tests that reveal whether the blood is clotting properly or not. Moreover, there are several types of screening tests for this disease. 

Complete Blood Count (CBC)

Complete blood count measures the amount of hemoglobin, size and amount of RBC (red blood cells), and the amount of WBC (white blood cells) and platelets in the blood. The CBC is healthy in people with hemophilia; still, if you have hemophilia, you will experience unusually heavy bleeding or bleed for a long time. At that time, the hemoglobin and RBC count can be low. 

Activated Partial Thromboplastin Time (APTT) Test

APTT test reveals how much time it takes for blood to clot. It measures the clotting ability factor of VIII, IX, and IX. If any of these closing factors are reduced, it takes longer than normal for the blood to clot. 

Prothrombin Time (PT) Test

PT test is similar to APTT test as it also reveals how long it takes for blood to clot. However, it focuses on the clotting ability of factors I, II, V, VII, and X. If any of these factors are inadequate, it takes longer for the blood to clot. Nevertheless, most people with hemophilia A and B will have normal results on this test. 

Fibrinogen Test

Fibrinogen test reveals how great a person can get a blood clot. It is also known as clotting factor I. 

Clotting Factor Tests

Clotting factor tests are required to reveal the type of hemophilia while deciding how severe it is. It will check the levels of factor VIII or factor IX in the blood. After that, it will show whether you have mild, moderate, or severe hemophilia. 

How Is Hemophilia Type C Diagnosed?

Hemophilia type C is usually diagnosed via genetic testing.

Related Read: What is PCOS? Everything You Need to Know

Treatment and Medication for Hemophilia

The best way to manage is through a comprehensive hemophilia treatment center (HTC). These centers include all the different kinds of providers, including hematologists, nurses, counselors, and physical therapists. 

The primary treatment for hemophilia is substituting the missing clotting factor in the blood so that it can clot properly. Furthermore, the primary replacement therapies are plasma-derived factor concentrates and recombinant factor concentrates. These two are administered through injections.