The Role of Genetic Testing in Diagnosing Hemophilia
Hemophilia is a bleeding disorder that affects millions worldwide. In India, approximately 136,000 people are born with this condition, according to the Economic Times. There are several types of hemophilia, characterized by a deficiency in proteins known as clotting factors. This deficiency can lead to excessive bleeding, painful and swollen joints, and spontaneous bleeding.
Genetic testing, a crucial tool in diagnosing hemophilia, plays a significant role in identifying the disease and obtaining adequate treatment. This blog will delve into the condition, its different types, symptoms, causes, and the role genetic testing plays in receiving a hemophilia diagnosis.
What is Hemophilia?
Hemophilia is a rare disorder caused by a lack of blood-clotting proteins (also known as clotting factors) in the blood. Individuals with this condition bleed for longer after an injury than those without it. While minor cuts and injuries are not a problem, bigger wounds, internal injuries, and bleeding inside the body (mainly in joints like the knees and elbows) are a significant concern.
Left untreated, hemophilia can cause excessive bleeding (even from minor wounds), spontaneous bleeds, internal bleeding, swelling, and bleeding within the joints of the body. Early diagnosis is crucial for successful hemophilia treatment.
There are three types of hemophilia:
- Hemophilia A: This is the most common form of the disease and is caused by a deficiency in clotting factor 8.
- Hemophilia B: This form occurs when there is a deficiency in clotting factor 9.
- Hemophilia C: The rarest form of hemophilia, Type C is caused by deficiencies in clotting factor 11.
What Causes Hemophilia?
The primary hemophilia causes are genetic mutations that determine the development of clotting factors. Genetics play a central role in all three forms of this condition. Hemophilia A and B result from mutations in the X chromosome. Men are more likely to develop it since biological males carry one X and one Y chromosome.
On the other hand, biological females have two X chromosomes, meaning one is typically always non-mutated. However, they can carry the disease and pass it on to their children. An inherited recessive gene causes Hemophilia C and can affect men and women equally.
What are the Symptoms of Hemophilia?
Common hemophilia symptoms include:
1. Bruising
Individuals with hemophilia often develop large bruises even after minor injuries. This is caused by bleeding under the skin.
2. Excessive Bleeding
This can include unusually prolonged and excessive bleeding after minor cuts, larger wounds, surgery, or dental treatments. Individuals with the condition may also start bleeding at random (like sudden bloody noses). The level of bleeding depends on the severity of the condition.
3. Joint Pain
Individuals with hemophilia often develop joint pain caused by internal bleeding. This makes the joints painful, swollen, and hot to the touch.
4. Severe Symptoms
Other severe symptoms of this condition include bleeding in the brain. Signs of brain bleeds include double vision, excessive sleepiness, and continuous persistent headaches. These signs are life-threatening and require immediate medical attention.
What Role Does Genetic Testing Play in Diagnosing Hemophilia?
Genetic tests play an important role in diagnosing hemophilia, as the condition is primarily inherited. Diagnostic tests for hemophilia help identify the specific genetic mutations responsible for the condition in an individual and can also determine if a person is a carrier of the gene.
Common types of genetic testing for hemophilia include:
1. Carrier Test
This is used for individuals who want to detect if they carry the hemophilia gene. It is most commonly used in those with no signs or symptoms of the disease. It is a simple, non-invasive blood test.
2. Linkage Test
This technique is used to identify individuals who might carry the gene for hemophilia but do not have any specific mutation. For this test, DNA samples from family members are studied to determine whether any section of their DNA is linked to the gene for hemophilia.
3. Direct DNA Mutation Test
This test diagnoses hemophilia and identifies the genetic mutation causing the disease. It can also be used to identify carriers. It is usually done using a blood sample or cheek swab.
4. Prenatal Screening
These tests are used to identify the presence of hemophilia before birth. It is usually performed by collecting and examining placenta tissue or amniotic fluid.
Individuals who present with symptoms of hemophilia must consult their healthcare professional immediately. For accurate hemophilia testing and diagnosis, visit Dr Lal PathLabs today!
FAQs
1. What are the main concerns of hemophilia?
The main concerns of hemophilia are internal bleeding, uncontrollable bleeding, and brain bleeds.
2. How is hemophilia transmitted?
Hemophilia is a genetic inherited disorder passed down from parent to child.
