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Breakthrough Treatment Options Offer Hope for Hemophilia Patients

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World Hemophilia Day – April 17th, 2024

By: Dr Vikas Dua

Hemophilia meaning love (philia) of blood (hemo) has been referred to as the disease of the kings,” as is often described in the descent of Queen Victoria of England. Haemophilia affects 1 in 10000 live births. The disease is of two kinds-Hemophilia A and B. Hemophilia A is more prevalent (80% to 85% of the total haemophilia population) than haemophilia B.

Hemophilia is usually an inherited condition and is caused by the congenital deficiency of clotting factors in the blood. As a result, your blood doesn’t clot properly causing prolonged and excessive bleeding after minor trauma or sometimes even spontaneously. Haemophilia A and B are caused by a deficiency of factors 8 and 9 respectively.

The diagnosis combines an index of suspicion due to a family history of bleeding, clinical manifestation, as well as laboratory testing. Your doctor does a simple test of PTT, mixing study and factor assays and confirms the diagnosis. Hemophilia is diagnosed if the factor activity is less than 40% of normal factor activity. The disease is categorised into mild, moderate and severe forms by quantification of factors activity done in a good laboratory and interpreted by an expert.

Both haemophilia A and B are inherited via an X-linked recessive pattern which means all the males carrying the affected gene will have the disease and 100% of females born from affected fathers will be carriers. Affected men have affected sons and carrier daughters. Carrier females have a 50% chance of affected sons and a 50% chance of carrier daughters. Up to a third of haemophilia cases happen sporadically which means that there is no evidence of in family history.

The haemophiliac kid can present at varying stages based on their severity as joint swelling (knee, elbow, ankles commonly), oral bleeding, skin bleeds, prolonged bleeding following tooth extraction or tonsillectomy or post-surgery and major bleeds such as brain bleeds, and abdominal bleeds. Repeated bleeding affects the day-to-day quality of life and causes arthropathy or destroys the joints permanently and should be dealt with as a matter of importance.

While performing pain management, one should avoid aspirin and take painkillers with doctors’ guidance as chances of bleeding may increase. All vaccinations to be given intramuscularly should be given by experts or avoided. The haematologist’s advice is PRICE therapy in case of a bleeding episode known acronym for Protect the joint, Rest, ice application, compression, and elevation. Immobilization of painful joints, early initiation of physical therapy and exercise program, maintaining strength, and preventing further injury by gait training patients go hand-in-hand. The treatment is fulfilling the deficiency that nature has bestowed i.e. urgent factor replacement. These are intravenous drugs given as a replacement basis as and when required or prophylactic to avoid joint bleeds. There are also newer subcutaneous once-a-month injections available, Emicizumab that have changed the life of haemophiliac kids.

Overall, haemophilia is an inherited condition. The median life expectancy with care and prophylaxis is reaching normal values. Adequate counselling, genetics opinion, and haematologist consultation are needed. In case of family history, be alert for testing during pregnancy. If your child has haemophilia consult an expert haematologist, always carry factor backups for emergencies with adequate storage, have appropriate peri-procedural consultation, screening for “inhibitors”, and adequate and planned follow-ups. Gene therapy for haemophilia has progressed remarkably and could soon become a reality.

The author is the Principal Director & Head of pediatric Hematology, Oncology & Bone Marrow Transplant at Fortis Hospital Gurugram

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