Hemophilia

Hemophilia is a bleeding disorder in which the blood clotting process slows down as it does not have enough blood-clotting protein. If you have hemophilia, you may experience bleeding for a longer time following an injury or surgery. 

There are two types of hemophilia – Hemophilia A and Hemophilia B. Hemophilia A is also known as Classic Hemophilia or factor VIII deficiency and Hemophilia B is known as Christmas Disease or factor IX disease. They have almost similar symptoms but they are caused by a mutation in different genes.

Hemophilia B Leyden is an unusual form of Hemophilia B in which a person experiences the problem of excessive bleeding in childhood but after puberty, there are a few bleeding problems. MRI can also be done to check the early joint changes in hemophilia

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Symptoms of Hemophilia –

• Excessive bleeding from cuts or injuries
• Pain in the joint
• Blood in urine/stool
• Deep bruises
• Unexplained irritation in infants
• Bleeding from nose
• Bleeding after vaccination

Complications in Hemophilia –

• Bleeding can occur in the deep muscle which may result in swelling of the limb.
• Bleeding in the neck or throat can affect a person’s ability to breathe.
• Internal bleeding can cause severe pain or damage to the joints.
• There is an increased risk of infection such as Hepatitis C.
• There may be a negative reaction to the clotting factor treatment.

Causes of Hemophilia – 

1. Congenital Hemophilia:It is a condition in which a person is born with the disorder and is usually inherited. It is classified based on the type of clotting factor which is low.
2. Acquired Hemophilia:It is a condition in which the person’s immune system is attacked in the blood by clotting factor VIII or IX. It may be due to pregnancy, the reaction to the drug, multiple sclerosis, cancer, or the auto-immune system.
3. Hemophilia Inheritance:Hemophilia mostly occurs in males and is passed from the mother through one of her genes.

Diagnosis of Hemophilia –

• In case of family history, a test for hemophilia is done soon after the son is born.

• In the case of the family having no history of hemophilia, the test is done in the following cases:

• Bleeding in the head.
• A large number of bruises.
• Bleeding does not stop after the blood has been drawn.
• There are various screening tests that are performed to check hemophilia:
• CBC (Complete Blood Count)
• Activated Partial Thromboplastin Time (APTT) Test
• Prothrombin Time (PT) Test
• Fibrinogen Test
• Clotting factors test

Treatment of Hemophilia –

Clotting Factor Products:

Plasma-derived Factor Concentrates

Recombinant Factor Concentrates

Other therapies:

Desmopressin

Clot-preserving medications

Fibrin sealants

Physical therapy

First aid for minor cuts

Emicizumab (Hemlibra)

Source:

https://www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327

https://www.cdc.gov/ncbddd/hemophilia/facts.html

https://medlineplus.gov/genetics/condition/hemophilia/