Hemophilia: Causes, Symptoms, And Treatment

Hemophilia is a rare type of bleeding disorder where the blood does not clot properly, leading to excessive bleeding after an injury or surgery. It can also cause sudden bleeding inside the body, like the joints, muscles, and organs.

The blood contains numerous proteins called clotting factors that help form clots to stop bleeding. People with hemophilia have low levels of one of these factors. The severity of hemophilia depends on the number of factors in the blood. Lower the amount of the factor, the more the chances of bleeding and severe health problems.

Types and Causes of Hemophilia

There exist different types of hemophilia, with the common being-

• Hemophilia A (classic hemophilia) is caused by a lack or decrease of clotting factor VIII (8)

• Hemophilia B (Christmas disease) is caused by a lack or low levels of clotting factor IX (9)

There is also a rare type of hemophilia called Hemophilia C, caused by a lack of factor XI (11) deficiency. 

Most types of hemophilia are inherited, caused due to alterations in one of the genes (also called a mutation) that delivers instructions for making the clotting factor proteins. The change indicates either clotting proteins are not working properly or are missing altogether.

Hemophilia which is not inherited is called acquired hemophilia. Rarely, during pregnancy, when the body's immune system is compromised, with cancer, when taking certain medications, or for unknown reasons, the body may produce specialized proteins, called auto-antibodies, that attack and disable a clotting factor.

Sign and Symptoms of Hemophilia

Hemophilia shows signs and symptoms primarily concerned with bleeding like-

• Bleeding into the joints causes swelling and pain or tightness in the joints, mainly the knees, elbows, and ankles.

• Bleeding into the skin, known as bruising.

• Bleeding into the muscle and soft tissue (hematoma)

• Bleeding of the mouth and gums, including hard-to-stop bleeding after dental procedures/ tooth loss.

• Bleeding after circumcision.

• Bleeding after vaccinations.

• Bleeding inside the head of an infant after a complicated delivery.

• Blood in the urine or stool.

• Recurring and hard-to-stop nosebleeds.

Children may develop symptoms of hemophilia a few months after they're born, like-

• Bleeding from their mouths after minor injuries, like injury from a toy.

• Swollen lumps on the head of the babies and toddlers after bumping.

• Fussiness, irritability, or refusal to crawl or walk due to internal bleeding into a muscle or joint. 

• Certain areas on their bodies may look bruised and swollen, feel warm to touch, or make the child hurt despite touching gently.

• Hematomas after receiving an injection.

Severe hemophilia may cause blood leaks inside the brain, leading to brain damage and becoming life-threatening.

The amount of bruising or bleeding in people with hemophilia will depend on the severity of hemophilia:

• People with severe hemophilia constantly suffer spontaneous bleeding or bleeding for no apparent reason.

• People with moderate hemophilia often experience serious injuries and bleeding for an unusually long time.

• People with mild hemophilia may suffer unusual bleeding only after major surgery or injury.

Diagnostic Strategies to Detect Hemophilia

Doctors can diagnose hemophilia after

• Recording medical history, including your symptoms and other health problems

• Recording your family history to find out the presence of hemophilia in the family members.

• Conducting a physical exam to look for hemophilia signs

• Performing blood tests to ascertain if your blood is clotting properly. 

Your doctor may request the following blood tests:

• Complete blood count (CBC): to measure and study blood cells.

• Prothrombin time (PT) test and Activated partial thromboplastin time test: to record time for blood clot formation.

• Tests for Specific clotting factor: To check factor 8 and factor 9.

Treatment Modalities for Hemophilia

Also, genetic testing is available for the factor VIII (8) and factor IX (9) genes, which may be used in people with a family history of hemophilia. It helps-

• Recognize the carriers before they make decisions about pregnancy.

• Test a fetus for hemophilia during pregnancy.

• Test a newborn for hemophilia.

Hemophilia can be treated effectively by replacing the missing clotting factor so that your blood can clot properly. It is carried out by injecting a replacement clotting factor into a vein, which may be made from donated human blood or in a lab (called a recombinant clotting factor).

Replacing clotting factors can help manage a bleeding episode. More severe cases of hemophilia may require the factor regularly to prevent bleeding. 

Medicines can also help treat hemophilia. They work by releasing factor VIII (8) from their body tissues storage, replacing factor VIII (8) function, or preventing the breakdown of clots.

In persons with damaged joints due to bleeding, physical therapy may help them function better.

Lifestyle Measures for Managing and Preventing Hemophilia

Certain activities and actions might help in improving the quality of life, like-

• Maintaining the exercise routine and talking to your provider about ways to reduce the risk of bleeding while staying active.

• Managing your stress by talking with family and friends or seeking professional help

• Maintaining good dental hygiene to reduce the need for dental procedures.

• Aiming for a healthy weight to avoid putting pressure on your joints.

• Educating people around you to ensure timely help.

"Do the 5" to prevent hemophilia-

• Get an annual comprehensive checkup for hemophilia. 

• Get vaccinated for Hepatitis A and B to avoid complications.

• Manage bleeds early and adequately.

• Exercise regularly and maintain a healthy weight to protect your joints

• Get tested routinely for blood-borne infections.

Summary

Hemophilia is a genetically transferred bleeding disorder that results in excessive bruising, nose bleeds, and spontaneous bleeding in severe cases. It typically affects males as the mutation occurs on the X chromosome, and males possess only one copy. A person with hemophilia can manage the condition with factor replacement therapy and lifestyle changes.