Hemophilia: Meaning, Causes, Prevention & Symptoms

Hemophilia refers to a rare condition in the human body that influences the capacity of the blood to form a clot. As people having hemophilia don’t have the same number of clotting factors as other individuals, they bleed for a longer period of time. In this article, we will have a look at what hemophilia is, its symptoms, types, and preventions.

Keywords: Hemophilia, Blood, Clot, Mutation, Gene, Brain, Chromosome, knees, elbows, ankles

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What is Hemophilia?

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Hemophilia is caused by a mutation or a change, in one’s genes, that influences the ability of an individual to form a blood clot. This disorder is characterized by uncontrolled bleeding and thus the lack of the blood to form a clot properly. Even a little cut or a minor injury may result in severe bleeding. 

Hemophilia is one of the many X-linked recessive inherited genetic disorders, where the gene causing the disorder or dysfunction is found on the X-chromosome. It leads to massive internal bleeding in the joints like the knees, elbows, ankles, and also within the tissues and muscles. This can cause considerable consequences, like swelling and pain within the affected areas. It can even cause lasting damage to the affected body parts.

When bleeding happens in vital organs like the brain, the condition has the potential to turn fatal. Hemophilia is a rare disease influencing approximately 1 out of 10,000 individuals around the globe.

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Types of Hemophilia

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Hemophilia exists in two forms:

• Hemophilia A: This type of Hemophilia is specifically caused as a result of a mutation in the factor VIII gene of the X chromosome.
• Hemophilia B: This type of Hemophilia is caused as a result of a mutation in the factor IX gene of the X chromosome.

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Prevention of Hemophilia

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Since Hemophilia is a genetic disease, it can’t be prevented; but it can be often diagnosed so that the parents can understand the risks of getting a baby with Hemophilia. If there’s a history of Hemophilia within the family, it’s better to consult a physician and have a biopsy to look at the clotting factors and to perform a molecular genetic test to look at the carriers in their genes.

As per the studies conducted on the inherited genetic disease, the genes from the mother often can be transmitted to both her children. Among them, there are 50% chances that her son will have Hemophilia A or B and 50% chances that her daughter is going to be a carrier of this gene.

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Symptoms of Hemophilia

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The signs and symptoms of Hemophilia vary based on the levels of clotting factors present. These clotting factors are substances within the blood that affect the method of blood clotting. If the clotting factors are modestly reduced, then the bleeding is seen only after major surgeries. If the clotting factor is completely reduced, then spontaneous bleeding is observed. 

Basic symptoms of Hemophilia are:

• Bleeding into the joints can lead to expansion and can cause snugness or pain in the joints; it frequently affects the elbows, knees, and lower legs.
• Bleeding into the skin leading to bruising or bleeding in a muscle or delicate tissue leading to a development of blood in that particular area (hematoma). 
• Bleeding of the gums and mouth. The bleeding is difficult to prevent in case of a tooth fall. 
• Bleeding after circumcision, which is a procedure that is performed on male genitalia. 
• Bleeding after having shots, for instance, inoculations. 
• Bleeding on a newborn child after a troublesome pregnancy. 
• Blood in stool or pee. 
• Difficulty in stopping nosebleeds.

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Symptoms of spontaneous bleeding 

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• Many deep or large bruises.
• Swelling (due to bleeding) and joint pain
• Unexplained bleeding and bruises.
• Blood in stools or urine.
• Excessive bleeding from a normal cut or injury.
• Nosebleeds without a reason.
• Unusual bleeding after getting vaccinations.

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Hemophilia Causes and Effects

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The genes affected in the case of hemophilia are situated on the X chromosome. Males have one X and one Y chromosome having an XY combination and females consist of two X chromosomes which make their genetic combination XX. Males acquire the X chromosome from their mothers and the Y chromosome from their fathers. Females acquire an X chromosome each from both parents.

The X chromosome contains countless genes that are absent on the Y chromosome. This implies males just have one copy of the bulk of the genes on the X chromosome, though females have 2 copies. Hence, males can get hemophilia in case they get an affected X chromosome that has a mutation in either factor VIII or factor IX gene. Females can likewise have Hemophilia, however, this is often a lot rarer. In such cases, both X chromosomes are influenced or one is influenced and therefore the other is missing or inactive. A female with one influenced X chromosome may be a "transporter" of Hemophilia. 

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Things to Remember

• Hemophilia refers to a rare condition in the human body that influences the capacity of the blood to form a clot.
• This disorder is characterized by uncontrolled bleeding and thus the lack of the blood to clot properly.
• Hemophilia is caused by a change in gene or mutation.
• A female with one influenced X chromosome might be a "transporter" of Hemophilia.
• There are two types of Hemophilia A and Hemophilia B.
• Since Hemophilia is a genetic disease, it can’t be prevented; but it can be often diagnosed so that the parents can understand the risks of getting a baby with Hemophilia.
• Hemophilia might be a rare and genuine disease influencing approximately 1 out of 10,000 individuals around the globe.

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