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World Hemophilia Day 2021: Everything we need to know on hemophilia and how to effectively manage it

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April 17, 2021
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World Hemophilia Day 2021: Everything we need to know on hemophilia and how to effectively manage it
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World Haemophilia Day 2021, What is World Haemophilia DayHemophilia symptoms include excessive bleeding and easy bruising.

Dr. Suresh Hanagvadi

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World Haemophilia Day 2021 History and Significance: The COVID-19 pandemic has severely impacted people with rare disorders, especially patients with hemophilia. During these unprecedented times, when the healthcare infrastructure is already stressed, these patients have faced constant challenges in accessing treatments.

According to the World Federation of Hemophilia, with more than 1 lakh cases, India ranks second on the list of countries with the highest number of hemophilia patients. In the last few years, hemophilia care has come a long way in our country, with the latest step forward being our Government releasing the first national policy on rare diseases. However, still more than 80% Indians with this serious bleeding disorder are undiagnosed due to various reasons including low awareness and lack of adequate diagnostic facilities.

What is Hemophilia?

Hemophilia is an inherited single gene disorder with an incidence of 1 per 10,000 births; affecting men (women are only carriers) in which the blood doesn’t clot normally. Blood contains many proteins called clotting factors that help stop bleeding. People with hemophilia (PwH) have low levels of either factor VIII (8) or factor IX (9). The severity of hemophilia that a person has is determined by the amount of factor in the blood. The lower the amount of the factor, the more likely it is that bleeding will occur which can lead to serious health problems. This means the person tends to bleed for a longer time after an injury, and they are more susceptible to internal bleeding. This bleeding can be fatal if it occurs within a vital organ. There are several different types of hemophilia. The following two are the most common:

  • Hemophilia A: caused by a lack or decrease of clotting factor VIII.
  • Hemophilia B: caused by a lack or decrease of clotting factor IX.

Hemophilia symptoms include excessive bleeding and easy bruising. The severity of symptoms depends on how low the level of clotting factors is in the blood.

  • Bleeding can occur externally or internally.
  • Any wound, cut, bite, or dental injury can lead to excessive external bleeding.
  • Spontaneous nosebleeds are common.
  • There may be prolonged or continued bleeding after bleeding previously ceased.
  • Signs of excessive internal bleeding include blood in the urine or stools, and large, deep bruises.
  • Bleeding can also happen within joints, like knees and elbows, causing them to become swollen, hot to the touch, and painful to move.
  • A person with hemophilia may experience internal bleeding in the brain following a bump on the head.
  • Symptoms of brain bleeding can include headaches, vomiting, lethargy, behavioral changes, clumsiness, vision problems, paralysis, and seizures.

Early diagnosis is imperative

Early diagnosis plays a critical role in hemophilia management. Many hemophilia cases with complications are treated as cases of arthritis, and many are treated surgically because they have been misdiagnosed as cases of appendicitis. Unfortunately, diagnosis of hemophilia is not suspected in certain situations. Most young populations are tested without checking their coagulation ability and sometimes, hemophilia is only suspected after 2-3 days of surgery when bleeding still continues.

In the first 6 months of a baby’s life, it’s difficult to identify this condition as they still haven’t learned to walk and therefore don’t fall as often. However, post crawling if parents start seeing bumps, bruises, bleeding near the joint, it is important to discuss it with your doctor and get necessary tests done.

Diagnostic tests also need to be performed at extremely specialized coagulation laboratories, as those not equipped and experienced enough to perform them may fail to diagnose the disease or diagnose it incorrectly. This may lead to several complications, including resistance to treatment and viral infections from human clotting factors, along with damage to joints, muscles, and other body parts.

Options for screening and treatment options

Screening tests such as Complete Blood Count (CBC), activated partial thromboplastin time, prothrombin time and fibrinogen help detect if the blood is clotting properly. clotting factor tests are carried to diagnose a bleeding disorder, type of hemophilia and its severity.

With the ongoing second wave of COVID-19, PRICE therapy (Protection, Rest, Ice Application, Compression and Limb Elevation) commenced at the earliest hint of a bleed is recommended for home management.

The present treatment options include Factor VIII replacement therapies, bypassing agents for people who develop inhibitors and Factor VIII mimic. The older method of giving factor replacement was called ‘on demand.’ This means when a patient suffers from a swelling of the joint or has an injury, after the problem occurs injections of the factor are given. A better way of treatment is called prophylaxis; or simply put preventative as opposed to on demand. In these regular small doses of factor are given to the patient before a joint bleed. The end result of treatment is much better in prophylaxis v/s on-demand.

Lastly, there is no cure for such rare disorders. However, you can manage this condition effectively by early diagnosis and appropriate treatment. Patients need to ensure regular check-ups, especially if they have a family history of this disease, regular sessions with physiotherapists, as physiotherapy plays a crucial role in treating hemophilia patients with pain reduction as well as in restoring joint mobility. This helps them to have an active and near to normal life.

(The author is MD Pathology, President of Karnataka Hemophilia Society, and Professor of Pathology, JJM Medical College, Davangere. The article is for informational purposes only. Please consult experts and medical professionals before starting any therapy or medication. Views expressed are personal and do not reflect the official position or policy of the Financial Express Online.)

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