Hemophilia Symptoms And Causes: Everything About The Genetic Disorder
Hemophilia is a genetic disorder in which the blood does not clot due to a low level of specific proteins called ‘clotting factors,’ making it difficult for the blood to clot properly. This consequently results in excessive bleeding. The signs and symptoms of hemophilia differ according to the intensity and causes.
There are 13 kinds of clotting factors that work with platelets in the process of clotting. These platelets are small blood cells that are formed in the bone marrow. Almost 1 out of 10,000 people are born with hemophilia, says the World Federation Of Hemophilia.
In the case of male birth, 1 in every 5,000 male births has hemophilia. Additionally, almost 33,000 males live with hemophilia disorder in the United States, says the Center For Disease Control And Prevention. Nearly half of these males are suffering from Hemophilia A.
In hemophilia, small cuts are not a matter of concern, but people with such disorders always risk severe bleeding inside the body, especially in the knees, ankles, and elbows. The internal bleeding can damage the organs and tissues, leading to life-threatening conditions.
Such disorders are hereditary and include treatments, such as regular replacement of the specific clotting factor.
What Is Hemophilia Caused By?
Primarily hemophilia is caused by inheritance. There are various kinds of hemophilia, and most of them are inherited. However, about 30% of hemophilia patients who have no family history of the disorder still have it. This happens due to unexpected changes that occur in one of the genes associated with hemophilia.
Usually, during the process of bleeding, the body pools blood cells together to form a clot to stop the bleeding. This clotting process involves the participation of individual blood particles, such as platelets. In hemophilia, some of the clotting factors are missing from the blood, which consequently prevents the clotting of blood.
When it comes to genetics and hemophilia, such disorder occurs during mutation or change in one of the genes responsible for providing clotting factor protein. This change prevents the clotting protein from functioning correctly. The genes that are responsible for the clotting of blood are present on the X chromosome.
Males carry X and Y chromosomes (XY), and females have two X chromosomes (XX). Male child inherits an X chromosome from their father and the Y chromosome from their mother. In comparison, the female child inherits two X chromosomes from each parent.
The X chromosome contains many genes that are not present on the Y chromosome, which means males have only one copy of most of the genes. At the same time, females have two copies of it. This puts males at a greater risk of developing hemophilia.
This is why females with hemophilia are scarce. In females, either both the X chromosome is completely affected, or one of them is partially affected or missing. Females with hemophilia have similar symptoms as males.
A female with a single affected X chromosome is a hemophilia carrier and may have hemophilia symptoms. Such women can pass the affected X chromosome with the clotting factor gene mutation on to their children. This is how a child gets hemophilia from their parents.
This alteration in the chromosome is very rare but can exist. This can also occur when a person's immune system attacks clotting factors in the blood, which can occur during:-
- Autoimmune conditions
- Multiple sclerosis
What Are The 3 Types Of Hemophilia?
Many clotting factors are present in the blood involved in the formation of clots, such as factor VIII and factor IX.
Hemophilia is categorized based on the severity of the disorder; depending on the level of the blood clotting factors in the blood, such as:-
- Hemophilia A: It is a type of hemophilia caused by the lack of blood clotting factor VIII. Almost 85% of hemophiliacs have type A.
- Hemophilia B: A type of hemophilia caused due to a deficiency of factor IX.
- Hemophilia C: This type of hemophilia is categorized due to the deficiency of factor XI.
What are the effects of hemophilia on the body?
Signs and symptoms of hemophilia depend on the level of clotting factors or the severity of the disorder. If the clotting-factor level is a bit low, you may bleed only after surgery or trauma. But if the level of clotting factor is severely low, the person may experience spontaneous bleeding.
Hemophilia symptoms (bleeding signs)
- Uncertain excessive bleeding from cuts or injuries, or after surgery or dental work
- Many large or deep bruises
- Unusual bleeding after vaccinations
- Pain, swelling, or tightness in your joints
- Blood in your urine or stool
- Nosebleeds without a known cause
- In infants, unexplained irritability
Bleeding in the brain: A simple bump on the head can cause bleeding into the brain for some severe hemophilia patients. This rarely happens, but it's one of the most severe complications that can occur. Signs and symptoms include:
- Painful, prolonged headache
- Repeated vomiting
- Sleepiness or lethargy
- Double vision
- Sudden weakness or clumsiness
- Convulsions or seizures
Also Read: Understanding Some Bleeding Disorders
What Tests Are Done To Diagnose Hemophilia?
Many people who have had family members with hemophilia will ask that their baby boys get tested soon after birth.
About one-third of babies diagnosed with hemophilia have a new mutation that is not present in other family members. In these cases, a doctor will check for hemophilia if a newborn shows sure signs of hemophilia.
To diagnose, doctors would perform specific blood tests to show if the blood is clotting properly. If it does not, they will do clotting factor tests, also called factor assays, to diagnose the bleeding disorder's cause. Such blood tests would show the type of hemophilia and severity.
Can Hemophilia Be Cured?
Hemophilia is caused because of deficiency of some of the clotting factors. Providing these factors to the body can help cure such a disorder. Now the question is, how will this happen?
Receiving a replacement of the missing clotting factor through a tube placed in a vein can help the person to resolve its symptoms. Such replacement therapy can be provided during the initial combat of bleeding episodes or at a regular schedule to prevent bleeding episodes. Some hemophiliacs receive continuous replacement therapy.
The replacement factor can be done through the donated blood. Similar products, such as recombinant clotting factors, are manufactured in a laboratory and aren't made from human blood.
There are other ways to such therapies, such as:-
- Desmopressin: In some mild hemophilia, such therapy can stimulate the body to release more clotting factors. It is usually injected slowly into a vein or prescribed as a nasal spray.
- Clot-preserving medications: These drugs help prevent clots from breaking down.
- Fibrin sealants: Applying clotting factors directly on the wound can also help directly in the process of clotting. These medications are one of them. It can be applied directly to wound sites to promote clotting and healing. Fibrin sealants are mostly useful in dental therapy.
- Physical therapy: It can help to lower the symptoms of internal bleeding of the damaged joints. In case the internal bleeding is severe, you may need surgery.
- First aid for minor cuts: With the help of pressure and a bandage, it will help the bleeding stop. For minor bleeding beneath the skin, try using an ice pack. Ice pops help to slow down minor bleeding in the mouth.
- Vaccinations: Although blood products are screened, it's still possible for people who rely on them to contract diseases. If you have hemophilia, consider receiving immunization against hepatitis A and B.
What Changes Should Hemophiliacs Do In Their Lifestyle?
In order to avoid severe symptoms of hemophilia, following lifestyle changes can help you resolve its complications, such as:-
- Exercise regularly: Exercises like swimming, bicycle riding, and walking can help hemophilia by building muscles and protecting joints. Sports, such as football, hockey, or wrestling, are not safe for a hemophiliac.
- Avoid certain pain medications: Some medicines may accelerate bleeding in hemophiliacs, such as aspirin and ibuprofen (Advil, Motrin IB, others). You can go for other alternatives, such as acetaminophen (Tylenol, others), and a safer option.
- Avoid blood-thinning medications: Some medicines prevent the blood from clottings, such as heparin, warfarin (Coumadin, Jantoven), clopidogrel (Plavix), prasugrel (Effient), ticagrelor (Brilinta), rivaroxaban (Xarelto), apixaban (Eliquis), edoxaban (Savaysa), and dabigatran (Pradaxa).
- Dental hygiene: Avoid tooth extraction to avoid excessive bleeding.
Avoid bleeding injury: Develop a habit of using knee pads, elbow pads, helmets, and safety belts if involved in these sports demanding such safety. This will help you prevent injuries from falls and other accidents.