Hemophilia

Overview – Hemophilia A and B are inherited X-linked disorders that predominantly affect males although females can be affected in some rare cases.

In X-linked recessive disorder, the disorder almost always occurs in boys and is passed from mother to son through one of the mother’s genes. Daughter inheriting the defective gene are carriers with no signs and symptoms.

Hemophilia A and B are disorders of blood wherein there are insufficient blood clotting proteins.

In hemophilia A there is an inherited deficiency of factor VIII. Whereas hemophilia B is an inherited deficiency of factor IX.

Hemophilia A is more common than hemophilia B.

Acquired hemophilia is a rare condition when a person’s immune system attacks clotting factors. This can occur in autoimmune conditions, cancer, pregnancy, multiple sclerosis.

 

Symptoms of hemophilia –

Signs and symptoms of hemophilia depend on the severity of deficiency of clotting factors.:

  • Most infants with severe hemophilia present within the first year to one and a half years of life. They may present with easy bruising, pain; swelling or tightness in the joints, bleeding after dental work or after surgery.
  • One of the most dangerous but relatively rare and life-threatening events in individuals with hemophilia is bleeding into the brain. Signs and symptoms include painful, prolonged headache; sleepiness, repeated vomiting, double vision, seizures.
  • Large deep bruises.

 

Complications of hemophilia –

  • Joint destruction and arthritis from repetitive bleeding into the joints.
  • Increased risk of infections from blood transfusions.
  • Development of inhibitors. Inhibitors are antibodies that develop to inactivate the clotting factors used to treat bleeding.
  • There is a high prevalence of heart disease in individuals with hemophilia.

 

Diagnosis of hemophilia –

  • Diagnosis is confirmed with a specific clotting factor activity measurement(s) and/or genetic testing in patients presenting with clinical features.

 

Medical management of hemophilia –

  • The main treatment of severe hemophilia includes receiving a replacement of the specific clotting factor that is deficient.
  • Fibrin sealants are applied at the wound sites.
  • Desmopressin is the hormone used to stimulate the clotting factor.

 

Lifestyle management –

  • Follow a healthy diet and exercise regularly as recommended by your doctor. Contact sports are not good for people with hemophilia.
  • Maintain oral hygiene and regular dental care to prevent gum and tooth disease.
  • Talk to your doctor about the medications that you are taking or planning to take. Anticoagulants and non-steroidal anti-inflammatory drugs (NSAIDs) should generally be avoided in patients with hemophilia.
  • It is also important to discuss herbal remedies and over-the-counter supplements such as fish oil, which may increase bleeding risk.
  • If you are planning pregnancy and have a family history of hemophilia, talk to your doctor about preconception genetic testing and/or counseling.
  • Wear a medical alert bracelet in case of an emergency.
  • Hemophilia patients are at increased risk of developing hepatitis infection. Even though the blood products are screened, all hemophilia patients should receive immunization against hepatitis A and B.
  • Make sure to tell everyone that you or your child about your condition.

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