Hemophilia

Diagnosis

The diagnosis of hemophilia may involve a thorough conduct of history and physical examination if there are suspected hemophilia symptoms, inquiring about the family’s medical history and ordering some tests.

In certain cases, individuals may only discover they have hemophilia when they experience excessive bleeding during a surgical procedure. In most cases, severe hemophilia is identified during the initial year of life, while milder forms may not manifest until adulthood.

It is also feasible to discover whether the fetus has hemophilia when the mother is pregnant. However, the risks involve with the procedure requires thorough discussion.

Tests that may be ordered to help with the diagnosis include:

• Clotting-factor test: This can identify a deficit in clotting factors and assess the severity of hemophilia.
• Complete blood count: This test will help analyze blood cells.
• Prothrombin time (PT) test: To assess blood clotting speed.
• Activated partial thromboplastin time test: To assess blood clot formation duration.
• Genetic testing: This may be performed to identify carriers in order to help individuals with a family history of hemophilia make an informed decision about getting pregnant.

Treatment

Hemophilia is treated by increasing clotting factor levels or replacing missing clotting factors through a method called replacement therapy.

Replacement therapy entails the administration of human plasma concentrates or synthetic clotting factors. These clotting factor concentrates are obtained from donated and treated human blood to mitigate the risk of disease transmission. Alternatively, recombinant clotting factors, produced in a laboratory setting without the use of human blood, are also available. Administration is typically via intravenous infusion.

Typically, regular replacement therapy is necessary for those with severe hemophilia, while those with mild or moderate cases may receive it before surgery. For individuals with severe hemophilia and frequent bleeding episodes, prophylactic factor infusions may be prescribed to prevent bleeding.

Other treatment options include:

• First aid for small cuts: Use an ice pack on minor spots of bleeding under the skin. Using ice pops can help stop minor oral bleeding. Applying pressure and covering the wound with a bandage can usually stop the bleeding.
• Fibrin sealants: For dental procedures, fibrin sealants are particularly effective. To encourage clotting and healing, they can be placed directly to wound sites.
• Desmopressin: This can be administered slowly through a vein or used as a nasal spray. This hormone can prompt the body to release more clotting factor which is beneficial in certain types of mild hemophilia.
• Emicizumab: Hemophilia A patients may avoid bleeding episodes with this medication. Emicizumab is a modern drug that does not contain clotting factors.
• Antifibrinolytics: Or clot-preserving medications help stop the breakdown of clots.
• Physical therapy: While severe damage may require surgical intervention, physical therapy can alleviate symptoms if internal bleeding has affected the joints