Hemophilia refers to an inherited bleeding disorder in which an individual lacks specific proteins known as ‘clotting factors’. Due to this reason, these individuals are not able to clot their blood. To know more about hemophilia causes, diagnosis, and treatment, keep reading.
As mentioned above, hemophilia occurs due to the deficiency of clotting factors. About 13 different kinds of clotting factors exist in a normal body. These factors combine with platelets to initiate clotting of blood.
In the absence of these factors, platelets are unable to stop the flow of blood from the body. This leads to excessive bleeding and may even cause death.
Hemophilia is a dangerous disease. As per the World Federation of Hemophilia, one in every 10,000 individuals is born with this disorder. To raise the awareness regarding it, World Hemophilia Day is celebrated on 17th April every year.
What Happens in Hemophilia?
Irrespective of the hemophilia causes, people suffering from this disease go through a definite pattern. They tend to bleed easily and it takes a much longer time for their blood to clot.
Patients with hemophilia may also suffer from internal bleeding. They have painful joints that may swell due to bleeding. Hemophilia is rare but is quite serious and may have fatal complications.
The disease is divided into different forms depending on various factors. The most common hemophilia types include hemophilia A, B, and C.
The first among the hemophilia types is A which occurs due to the lack of factor VIII. As per the National Heart, Lung, and Blood Institute, 8 out of 10 people suffer from it out of all other hemophilia types.
Next up among hemophilia types is the B type which is also known as Christmas disease. In this disease, there is a deficiency of factor IX.
One of the mildest hemophilia types is hemophilia C in which there is a lack of factor XI. In this disease, spontaneous bleeding seldom occurs. Hemorrhage mostly arises right after trauma or a surgical process.
Hemophilia is acquired genetically and is currently incurable. However, hemophilia diagnosis is essential so that proper measures can be taken and complications can be avoided.
In very rare cases, hemophilia occurs after birth. Such type is known as acquired hemophilia and the people suffering from it have their own immune systems attacking factor VIII and IX.
Hemophilia symptoms depend upon the severity of the deficiency. It is not related to the hemophilia causes by any means.
People with milder deficiencies only bleed after surgery or trauma. On the other hand, people with severe deficiencies may bleed for no reason at all. In children, hemophilia symptoms usually arise after the age of 2.
Spontaneous bleeding observed as one of the hemophilia symptoms may lead to:
- Blood in feces
- Blood in urine
- Deep bruising
- Bleeding from gums
- Large bruises with no underlying cause
- Excessive bleeding
- Irritability, particularly occurring in children
- Tightness in joints
- Pain in joints
When should you See your Doctor?
The following hemophilia symptoms, if appear, indicate a medical emergency. You need to see your doctor as soon as possible if you suffer from:
The following symptoms constitute a medical emergency. You should get treatment right away for any of these symptoms:
- Pain in neck
- Repeated vomiting
- A severe headache
- Double vision
- Blurry vision
- Nonstop bleeding from an injury
One of the major hemophilia causes includes the disturbance of the coagulation cascade. It is a normal process that keeps taking place in your body to stop bleeding.
By the virtue of this process, platelets gather around a wound and lead to clot formation. The clothing factors then work together to form a permanent plug so that the wound does not bleed anymore.
The absence of these clotting factors constitutes one of the biggest hemophilia causes. In their absence, the wound continues to bleed.
Most of the hemophilia causes i.e. the deficiencies of clothing factors occur genetically. A defect occurs in the gene that is responsible for generating factors VIII, IX, or XI.
These genes are present on X chromosome. This makes hemophilia an X-linked recessive disorder.
To understand hemophilia genetics, you need to know that every person has two type of sex chromosomes in his body. Females inherit two X chromosomes from their parents whereas males acquire an X and Y chromosomes.
Males tend to inherit the X chromosome from the mother and a Y chromosome from the father. Females get X chromosome from both father and the mother.
Because the hemophilia causes include problems with a gene on X chromosome, fathers cannot pass this disease on to their sons. This also indicates that if a male acquires an altered X gene from his mother, he will develop the disease.
A female with a defective X chromosome is 50percent likely to pass it one to her children, be it a male or female.
A female that carries an altered hemophilia gene on one of her X chromosomes is known as a carrier. This means that she does not have the disease herself but can pass it on to her children.
Males with an altered gene on their X chromosome can pass this gene to their daughters and make them carriers. Females need to have altered gene copies on both of her X chromosomes in order to manifest this disease.
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Hemophilia Risk Factors
Hemophilia causes predominantly include genetic reasons. Hemophilia types A and B are more commonly seen in males as compared to females due to genetic transmission.
Hemophilia C is a type of autosomal inherited disease. This means that both males and females have an equal tendency to suffer from it. Autosomal disease means it does not have to do anything with the sex chromosomes.
As per the Indiana Hemophilia and Thrombosis Center, hemophilia C affects people belonging to the Ashkenazi Jewish descent but can occur in other groups too.
What are the Complications of Hemophilia?
Irrespective of hemophilia causes, complications may occur. These may include:
- Pain in joints
- Neurological symptoms
- Internal bleeding
Such patients are also at an increased risk of acquiring infections like hepatitis, especially on receiving donor blood.
Treatment options differ according to different hemophilia causes. For type A hemophilia, a prescription hormone is usually given. It goes by the name of desmopressin and can be injected into your vein.
Hemophilia treatment for type B includes infusion of blood consisting of donor clotting factors. In some cases, these clotting factors are provided in a synthetic form.
Hemophilia treatment for type C includes plasma infusion. This is meant to avoid perfuse bleeding. The factor that lacks in hemophilia C is available in the form of medication in Europe.
In case you have developed a complication of joints, you may also be recommended to join a rehabilitation session to improve physical capacity.
Hemophilia diagnosis can be difficult. It can only be made during an in vitro fertilization. Since hemophilia diagnosis is quite difficult, prenatal and preconception ccounselingsessions are recommended for understanding the risks and preventing the disease.
Hemophilia is a genetic disorder which can affect the life of a person in a really bad way. The most common hemophilia causes include the deficiency of factor VIII, IX, or XI. Irrespective of hemophilia causes, the disease needs urgent attention to avoid complications and fatalities.