Everything about Hemophilia: Symptoms, Causes & Treatment
Everyone who doesn’t know about hemophilia might think it is a disease but do note it is not. Hemophilia is a serious condition which everyone should be aware of. Here is a simplified explanation about hemophilia its causes, risk factors & treatment.
Hemophilia is defined as one of a group of inherited bleeding disorders causing abnormal or excessive bleeding and poor blood clotting.
- Hemophilia A and Hemophilia B are distinguished by the specific gene that is mutated (altered to become defective) and codes for a defective clotting factor (protein) in each disease.
- Hemophilia C (a deficiency of Factor XI) is encountered, but its effect on clotting is far less than A or B.
Hemophilia A and B are inherited in an X-linked recessive genetic pattern and are is commonly seen in males. It is called the Royal Disease because Queen Victoria, Queen of England (1837 to 1901), was a carrier. Her daughters passed the mutated gene on to members of the royal families & Alexandra, Queen Victoria’s granddaughter, who became Tsarina of Russia in the early 20th century when she married Tsar Nicholas II, was a carrier. Their son, the Tsarevich Alexei, inherited this condition.
Symptoms of Hemophilia:
On the level of clotting factors in a person, signs and symptoms of hemophilia show variation. If the person’s clotting-factor level is mildly reduced, they may bleed only after surgery or trauma. If their deficiency is severe, they may experience spontaneous bleeding.
Signs and symptoms of spontaneous bleeding include:
ü Unexplainable and excessive bleeding from cuts or injuries/ after surgery /dental work
ü Many large/deep bruises
ü Bleeding after vaccinations
ü Pain, swelling or tightness in the joints
ü Blood in urine/stool
ü Nosebleeds cause of unknown reasons
ü In infants, unexplained irritability
When to visit the Doctor?
If you face any of the following symptoms you should get treated right away as it is stated as a medical emergency:
ü severe headache
ü vomiting repeatedly
ü neck pain
ü blurred or doubled vision
ü extreme sleepiness
ü continuous bleeding from an injury
If pregnant, see a doctor if you go through any of the above symptoms.
The coagulation cascade is a process in our body that stops bleeding. Blood platelets coagulate/gather together at the wound site and form a clot. A low level of these clotting factors or the absence of them causes bleeding to continue.
Hemophilia and Genetics:
Hemophilia is an inherited genetic condition (passed down through families.) It’s caused by a defect in the gene that determines how the body makes factors VIII, IX, or XI. These genes are located on the X chromosome, making this condition an X-linked recessive disease. Each person inherits two sex chromosomes from their parents. Females have XX & Males have XY. Males inherit an X chromosome from their mother and a Y chromosome from their father. Females receive an X chromosome from each parent.
Fathers can’t pass this disease to their sons & a male will have hemophilia if he gets the X chromosome with the altered gene from his mother. A female carrier with one X chromosome that has the altered gene has a 50 per cent chance of passing that gene to her children. The females who are carriers do not have the disease but have a serious risk of bleeding. Males with an X chromosome that has the altered gene may pass it on to their daughters, making them carriers. A female must have this altered gene on both of her X chromosomes to inherit this condition, but it is rare.
Complications of Hemophilia:
- Deep internal bleeding – Bleeding occurring in deep muscle can cause limbs to swell. The swelling may press on nerves and lead to numbness/pain.
- Damage to joints- Internal bleeding puts pressure on joints resulting in severe pain. If left untreated this might cause arthritis or destruction of the joint.
- Infection- People with hemophilia have blood transfusions & that increases the risk of receiving contaminated blood products. But blood products became safer after the mid-1980s due to screening of donated blood for hepatitis and HIV.
- Reaction to clotting factor treatment – In some with severe hemophilia, the treatment becomes less effective as the immune system has a negative reaction to the clotting factors used to treat bleeding. The immune system develops proteins (inhibitors) that inactivate the clotting factors.
Risk Factors for Inheriting Hemophilia C:
We know that hemophilia A and B are more common in males. Hemophilia C is a disease that affects males and females equally. The genetic defect that causes this type of hemophilia isn’t related to sex chromosomes. According to the Indiana Hemophilia and Thrombosis Center, this form of the disease most commonly affects people of Ashkenazi Jewish descent, but it may affect other ethnic groups as well. In the United States, hemophilia C affects about 1 in 100,000 people.
It is diagnosed via a blood test. The doctor will remove a small sample of blood from the vein and measure the amount of clotting factor present, then graded to determine the severity of the factor deficiency:
Stages of hemophilia
- Mild hemophilia– indicated by a clotting factor in the plasma that’s between 5 and 40 per cent.
- Moderate – indicated by a clotting factor in the plasma that’s between 1 and 5 per cent.
- Severe -indicated by a clotting factor in the plasma of less than 1 per cent.
How hemophilia is treated?
- Hemophilia A can be treated with a prescription hormone called desmopressin, which they can give as an injection into your vein. This medicine works by stimulating the factors responsible for the process of blood clotting.
- Hemophilia B can be treated by infusing blood with donor clotting factors. It might also be given in the synthetic form. They’re called recombinant clotting factors.
- Hemophilia C can be treated by using plasma infusion. The works to stop continuous bleeding. The deficient factor responsible for it is only available as a medication in Europe.
- Physical therapy- for rehabilitation if joints are damaged by this X linked disorder.
Hemophilia is passed from mother to child. When pregnant, there’s no way of knowing whether the baby has this condition. But in-vitro fertilization( eggs are fertilized in a clinic ) they can be tested for the condition. Only the eggs without this condition can be implanted. Preconception and prenatal counselling can help one understand the risk of having a baby with this condition.
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