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What is hemophilia?

Dr. Sreelekha Daruvuri

4 Min Read

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Hemophilia is a condition in which the blood loses its ability to clot. This is usually inherited and most commonly observed in males. In this condition, the blood does not clot as it should, which results in spontaneous bleeding and bruising after surgery or any injury. Multiple Proteins known as clotting factors work with platelets to stop bleeding at the injury site. This bleeding disorder slows the blood clotting procedure and people associated with this experience prolonged bleeding following any injury or surgery.

There are different types of hemophilia. The three main forms of hemophilia are hemophilia A, hemophilia B and hemophilia C. Two main types of hemophilia occur commonly in males than in females. Hemophilia A is a common type and is found in 1 in 4,000 to 5,000 males whereas hemophilia B occurs in approximately 1 in 20,000 newborn males. In this article, let us get insights into the causes, symptoms and types and treatment of hemophilia.

Causes:

The primary cause of all types of hemophilia is mutation or alternation in one of the genes which provide instructions for making some of the clotting factors required to form a blood clot. Clotting factors help blood form clots that seal up wounds. The change can prevent the clotting protein from working effectively or to be missing. These genes are located on the X-Chromosome. Males have one X and Y chromosome and females have XX chromosomes. Males inherit X-chromosomes from their mother and Y from their father. Females inherit one X chromosome from both parents.

Signs and Symptoms of hemophilia:

The symptoms of hemophilia vary based on the severity of the condition. Signs and symptoms of hemophilia vary depending on the level of clotting factors. Common signs of hemophilia include:

Bleeding into joints: this can cause swelling, pain or stiffness in joints.
Bruising can cause a build-up of blood in the area.
Bleeding of mouth and gums, bleeding which can happen while brushing the teeth.
Unusual Bleeding after circumcision i.e. surgery performed on male babies to remove the hood of skin, covering the penis.
Prolonged Bleeding/hematomas after having vaccinations
Localised Bleeding in the head of an infant after a difficult delivery.
Blood in urine or stool
Frequent and hard to stop nosebleeds.
Many large or deep bruises
Hematomas i.e. when there is bleeding into the muscle or soft tissue

In mild cases, the person will likely experience:

Spontaneous nose bleeds
Bleeding from mouth and gums
Easy bruising or hematomas
Excessive bleeding following dental or surgical procedures or labour.

People with hemophilia can experience any type of internal bleeding but major of this occurs in muscles and joints. You may feel no pain at first but the joint may become painful to move over the span of time. Bleeding in the brain is a serious issue as this may be life-threatening. The signs of bleeding in the brain include a change in behaviour, excessive sleepiness, headache, neck pain, double vision, vomiting etc.

Diagnosis of hemophilia:

Hemophilia is diagnosed via a blood test. The lab technician will remove a small sample of blood from the vein. Initially bleeding time and clotting time is assessed and later they measure the amount of clotting factor. This is done to determine the severity of factor deficiency and the severity of the condition.

It is also common for people who are or have any family member affected with hemophilia to get their baby boy tested for the condition. Testing is even planned before the baby’s birth so a blood sample can be drawn from the internal tissues like amniotic fluid. This is better for discovering the low level of factor 8 than for finding the low level of factor 9 as factor 9 levels are not at normal level till 6 months of age.

The two types of tests used for diagnosis include screening tests and clotting factors.

A screening test is a blood test that depicts whether blood is clotting properly. Types of screening tests are:

Complete Blood count: this test measures the amount of hemoglobin, size and amount of red blood cells, WBC and platelets. If the count of hemoglobin and red blood cell is low, then one is affected with hemophilia.
Activated partial thromboplastin time test: this test depicts the time taken for blood to clot. This test measures the clotting ability of factors 8,9,11 and 12.
Prothrombin time test: this test also depicts how long it takes for blood to clot. This focuses on the clotting ability of factors 1,2,5,7 and 10.
Fibrinogen test: this test reveals how well a person can form a blood clot. This is known as clotting factor 1.

Clotting factors tests are used for diagnosing a bleeding disorder which reveals the type of hemophilia and how severe the condition is. They check the level of factors 8 and 9 in blood and even show whether you have mild, moderate or severe hemophilia.

Type of hemophilia:

Hemophilia is classified by its severity level. Hemophilia is mild, moderate and severe depending on blood clotting factor level. Three main forms of hemophilia are:

Hemophilia A: this is caused due to lack of blood clotting factor 8. 85% of hemophiliacs have type A.
Hemophilia B: this is caused by a deficiency of factor 9.
Hemophilia C: some specialists even use this term to show a lack of clotting factor 11.

Treatment of Hemophilia:

Treatment of hemophilia depends on the type and severity of the condition. The main purpose of treatment is to replace the clotting factors and prevent bleeding. The doctor may prescribe the below treatment options:

Concentrated FVIII or FIX product: these medications infuse clotting factors to treat types A and B. the medication can be synthetic or made from plasma. This is prescribed as a part of ongoing regular treatment.
Antifibrinolytics like Aminocaproic acid: help in preventing the breakdown of blood clots.
Non-factor replacement therapy: these are a new form of therapy that uses synthetic protein to replicate the clotting factor. In this, the doctor injects the medication into the skin.
Physical therapy: in this, the patient has to go through physical therapy for rehabilitation if hemophilia has damaged the joints.

Hemophilia is a blood disorder that is associated with heavy bleeding. If you are experiencing any symptoms of hemophilia, you must get in touch with the doctors at MFine. A person living with hemophilia can typically manage this condition with factor replacement therapy and lifestyle changes and can prevent complications. Get in touch with the best specialists at MFine and manage your condition.