A Guide To Analyze Your Genetic Variants For Hemophilia

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What is Hemophilia?

Haemophilia is a rare blood disorder that is usually inherited in which the individual’s blood doesn’t clot properly or clots very slowly.

This happens because the individual’s blood lacks the adequate amount of clotting proteins.

So, in people with hemophilia, a small cut can take a long time to clot while larger cuts can cause profuse bleeding, many a time even risking the patient’s life.

Due to slow blood clotting, wounds in hemophilic patients also take longer to heal. 

 

What causes hemophilia?

As mentioned earlier, hemophilia is an inherited disorder that causes a defect in the gene that synthesizes the clotting factor in the blood, leading to its absence.

The gene responsible for the synthesis of this clotting factor usually has two copies.

These genes responsible for the clotting factor are present on the X chromosome. 

All types of hemophilia are inherited and about 30% of people with the disease have no family history of the condition.

A type of hemophilia caused as acquired hemophilia can suddenly develop during a person’s lifetime due to the following causes:

  • Pregnancy
  • Multiple sclerosis
  • Autoimmune diseases
  • Cancer

 

Symptoms of hemophilia vary and depend upon the presence and level of clotting factors in the blood.

Based on the severity of the symptoms, hemophilia can be classified into mild, moderate, and severe forms.

 

Mild hemophilia rarely causes any trouble in daily life.

It usually becomes evident during puberty or when bleeding is prolonged, longer than usual, after a surgery or a deep cut.

In the case of moderate hemophilia, the bleeding usually lasts longer than in mild hemophilia but doesn’t become evident unless after an injury or surgery.

However, severe hemophilia is usually easy to spot as any internal bleeding causes pain, and external bleeding can occur with no apparent cause.

Bleeding for no reason is common in joints, especially those of the hands, knees, hips, ankle, and elbow.

Bleeding into the brain, the abdominal cavity and throat are seen and are also dangerous to the life fo the patient.

The severe form of hemophilia is usually evident from a very young age, as babies will tend to bruise easily.

As toddlers begin walking, they tend to put more strain on their hands and legs, which started bleeding immediately.

Painful, swollen joints that are difficult to move are classic signs of severe hemophilia.

 

Other common signs of hemophilia include:

  • Unexplained or spontaneous bleeding from cuts, dental procedures or surgery
  • Unusual bleeding during vaccinations
  • Blood in urine or stool
  • Nosebleeds with no cause
  • Unexplained irritability in infants 

 

Types of Hemophilia

There are several types of hemophilia based on which of the clotting factors are missing from the blood.

However, the two most common types of hemophilia that we encounter are:

Haemophilia A

It is also called classic hemophilia or factor X deficiency and occurs due to the lack of or decrease in clotting factor VIII.

 

Haemophilia B

It is also known as Christmas disease or factor IX deficiency.

As the name suggests, this type of hemophilia occurs due to a lack of or a decrease in factor IX of the clotting cascade.

A type of hemophilia B called hemophilia B Leyden is characterized by excessive bleeding in childhood but lesser bleeding episodes after puberty.

 

All types of hemophilia have the same signs and symptoms but occur as a result of mutations in different genes.

Changes in the F8 gene are responsible for hemophilia A whereas, the changes in the F9 gene result in hemophilia B.

Mutations in the F8 or F9 result in the production of abnormal factor VIII and factor IX.

This results in an ineffective clotting process leading to excessive bleeding.

 

Inheritance of Hemophilia

As we know, hemophilia is a hereditary disease and is X chromosome-linked.

The genes that are responsible for the synthesis of clotting factors VIII and IX are present o the X chromosome.

Women have two X chromosomes, whereas men have just one.

In case a woman has a defective gene on her one X chromosome, the other X chromosome gene makes sure that the blood clotting factors are synthesized usually, and clotting usually occurs.

However, in case a man has a defective gene on his X chromosome, no clotting factor synthesis occurs because men have only one X chromosome.

Since women rarely have two defective genes on both their X chromosomes, hemophilia is more common in men than in women, and women are usually carriers of the disease.

This means that they are responsible for carrying forward the gene to their next-generation, but themselves never get affected.

 

Women who are carriers usually have a sufficient amount of blood clotting factors and show normal bleeding and clotting times.

However, a small percentage of them have less than a sufficient amount of the clotting factors that result in abnormal bleeding post-trauma, injury, or surgery.

 

Diagnosis and treatment of Hemophilia 

It is easy to diagnose hemophilia based on signs and symptoms, medical history, family history, risk factors, and blood tests.

The standard diagnostic tests that your doctor will run for the diagnosis include:

  • Complete Blood Count (CBC)
  • Partial thromboplastin time
  • Prothrombin time
  • Von Willebrand Factor Test
  • Clotting factor tests
  • Bethesda Test
  • Factor XIII antigen
  • Genetic Testing

 

To determine the severity of hemophilia, the clotting factor test is done.

Depending upon the percentage of factor VIII in the blood, the hemophilia is said to be Severe(less than <1% clotting factor VIII detected), Moderate (1 to 5% clotting factor VIII) and mild (6 to 30% of clotting factor VIII detected).

 

Once hemophilia and its type have been diagnosed, the next logical step is to treat it.

The treatment for hemophilia is dependent upon the type and severity of the disease.

The mainstream treatment for moderate and severe forms of any hemophilia is the replacement of the clotting factor that is missing.

This is called replacement therapy and can be given to manage a bleeding episode as well.

These replacement factors are obtained from donated blood or can also be manufactured in a laboratory.

These products are called recombinant clotting factors.

 

Other treatment options include:

  • Administration of desmopressin
  • Medications that preserve clots
  • Fibrin sealants
  • Immediate First aid for minor cuts

 

Diet recommendation for hemophilia

One of the symptoms of hemophilia is swelling and pain in joints.

So, people with the condition must maintain their joints healthy and active and avoid putting on excess weight that can strain their joints.

Obesity is a prevalent condition in people with hemophilia.

Therefore, it is essential that people with hemophilia eat healthy food.

Some useful diet recommendations for people with hemophilia are as follows:

Include and increase the consumption of fruits and vegetables as they are excellent sources of vitamins, minerals, and fiber. Fiber is excellent for gut health.

  • Increase intake of whole grains such as wheat, oats, barley, brown rice, etc. These are rich in fiber, help increase satiety value, lower blood cholesterol, and help stabilize glucose levels.
  • Avoid fried foods. Opt for baked instead.
  • Avoid excessive meat consumption and replace animal-based proteins with legumes, lentils, soy, and seeds
  • Choose foods that are rich in good fats and avoid foods rich in bad fats completely
  • Choose low-fat dairy products and opt for plant-based sources of calcium
  • Maintain portion control and switch to healthy snacking

 

Individuals with hemophilia and other bleeding disorders usually lack in iron and blood volume.

Hence, they must include foods that are iron-rich and contain nutrients that help increase blood volume.

Some of the nutrients that help in blood formation are vitamin B6, B12, folic acid, vitamin C, and vitamin E.

 

References

  1. https://ghr.nlm.nih.gov/condition/hemophilia
  2. https://www.cdc.gov/ncbddd/hemophilia/facts.html
  3. https://www.ncbi.nlm.nih.gov/books/NBK355296/
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1979287/
  5. https://www.nhlbi.nih.gov/health-topics/hemophilia
  6. https://blog.23andme.com/news/researchers-discover-the-true-identity-of-the-royal-disease/

 

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