What is Hemophilia?

Hemophilia is a rare genetic blood disorder in which blood does not clot properly. It is due to a deficiency of blood clotting factors. [1]

 

In hemophilia, patients bleed for a longer time after an injury than they would if blood clots properly. Minor cuts are not a big issue. The genuine concern is internal bleeding, especially in elbows, knees, and ankles. Prolonged internal bleeding can damage the organs and tissues and can be life-threatening.

 

 

 

What are the Types of Hemophilia?

Hemophilia has two types, which include [2]:

• Hemophilia A: classic hemophilia or factor VIII deficiency
• Hemophilia B: also known as Christmas disease or factor 9 deficiency. [2]

 

The treatment includes regularly replacing specific clotting factors that are deficient in the body.

 

 

 

What are the Symptoms of Hemophilia?

The symptoms of hemophilia range from sudden bleeding with no apparent cause to increased bleeding after trauma, injury, or surgery. [3]

 

The symptoms of hemophilia are as follows:

• In moderate to severe hemophilia, most children have bleeding within their first eighteen months of life
• Bleeding in the head during birth
• Swollen, bruised joints or muscles when learning to walk
• Bleeding into joints
• Bruising easily from minor abscesses
• Frequent nosebleeds
• Gum bleeding after tooth brushing
• Bloody urine
• Bloody stools

 

 

 

What are the Causes of Hemophilia?

Hemophilia is an inherited disorder. It is caused by the deficiency of the clotting factors due to a defect or mutation in the gene. Research has shown over 1000 mutations in the genes encoding factor VIII and IX and around 30% are due to spontaneous mutations [4].

 

The encoding genes for factors VIII and IX are present in the long arm of chromosomes.  Both hemophilia A and B are inherited via an X-linked recessive pattern.

 

Female carrier mothers have a 50% chance of having affected males and a 50% chance of having carrier females.  Females could also be affected if there is a complete inactivation of chromosome X through limitation, partial or complete absence of chromosome X.

 

 

 

What are the Treatment Options for Hemophilia?

The main treatment option for severe hemophilia is "Clotting factor replacement therapy."   The replacement therapy can be given at home.

 

Other treatment options are [5]:

 

1. Desmopressin: It is a hormone that stimulates the body to release more clotting factors.

 

1. Emicizumab: This is a newer drug that helps prevent bleeding episodes in people with hemophilia A.

 

1. Clot-preserving medications: Clot-preserving medicines are also known as anti-fibrinolytics. These medications help prevent clots from breaking down.

 

1. Fibrin Sealants:  Fibrin Sealants are used to promote clotting at healing. They are particularly used for dental work.

 

1. First Aid for Minor Cuts: Use a bandage and apply pressure to take care of minor cuts. Ice pops can be used to reduce minor bleeding in the mouth.

 

 

 

References:

1. https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327
2. https://medlineplus.gov/genetics/condition/hemophilia/
3. https://www.webmd.com/a-to-z-guides/understanding-hemophilia-basics
4. https://www.ncbi.nlm.nih.gov/books/NBK551607/
5. https://www.mayoclinic.org/diseases-conditions/hemophilia/diagnosis-treatment/drc-20373333

 

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