Lesser-known facts about hemophilia: A patient may experience significant impairments if their hemophilia diagnosis is delayed. Here’s everything you need to know about new treatments in India and how it affects guys.<\/h2>\n

Lesser-known facts about hemophilia<\/a>: In our nation, hemophilia is frequently overlooked and, in fact, misdiagnosed due to a lack of knowledge about the condition among the general public and the broader medical community. Delays in diagnosis, therapy, and the patient’s development of significant disability result from this.
\n“Hemophilia is a rare hereditary illness that is sometimes regarded as the “Royal Disease,” according to Dr. Santanu Sen, Consultant in Paediatrics, Paediatric Hematology, Oncology, and Stem Cell Transplantation at Kokilaben Dhirubhai Ambani Hospital in Mumbai, during an interview. Due to the disease’s incapacity to cause blood to clot spontaneously, patients with the condition have ongoing bleeding, even from little wounds. Although the fundamentals of the illness are widely established, there are many other, less well-known features that go unrecognized.”
\nHe disclosed, “Queen Victoria of England is the source of the name. She carried the disease and gave her offspring the faulty gene.” Her descendants married into several royal families in Europe, which caused the illness to spread among the nobility of Spain, Germany, and Russia. Remarkably, both her own son, Prince Leopold, and the former Tsar of Russia, Alexai Romanov, suffered from the same illness. In actuality, the Tsar’s reliance in the notorious mystic Rasputin stemmed mostly from his purported ability to treat the illness.<\/p>\n

Dr. Santanu Sen clarified that the condition primarily affects men since it results from an X chromosomal abnormality. He said, “Since males have one X and one Y chromosome, every male with a defective gene will have the disease.” Women with two copies of the X chromosome, on the other hand, would only be carriers of the illness. Thus, they would not contract the illness themselves, but they may pass on the gene to their offspring, just like Queen Victoria did. However, in rare cases, if a carrier marries a male carrier who also has the disease, their daughters may inherit two defective copies from both parents and also develop the condition.<\/p>\n

He went on, “There are two well-known variants of the disease: hemophila A, which is caused by a lack of blood clotting factor VIII, and hemophila B, which is caused by a lack of factor IX. A genetic flaw on the X chromosome is the cause of both of these types. Hemophila C, a far less well-known variation, is caused by a Factor XI deficiency. Additionally, the inheritance is distinct in that it only occurs in cases where both parents are carriers of the disease and affects males and girls equally.<\/p>\n

While the disease’s typical symptoms, such as persistent bleeding from even small cuts, are well known, the condition also causes far greater harm from internal bleeding into joints and muscles, which can have long-term effects and cause morbidity. “The history of hemophilia treatment is both ground-breaking and tragic,” stated Dr. Santanu Sen. The development of clotting factor concentrates in the 1960s brought about a revolution in the treatment of the illness. Two decades later, blood products tainted with HIV and hepatitis C caused a crisis in the 1980s, when hemophiliacs were at risk of developing widespread, life-threatening illnesses. This sad past makes it clear that all patients require strict screening procedures and blood safety precautions.<\/p>\n

“Today, we are moving forwards from the era of only treating patients when they have a bleed, to the era of using prophylactic treatment with regular infusions of clotting factors to stop all bleeds from happening,” he said. Patients may now lead much normal, healthy, and active lives without having to worry about cutting themselves or bruising themselves. In the future, gene therapy will be used to treat the disease, holding up the possibility of a permanent, one-time solution for this age-old ailment.<\/p>\n

Dr. Farah Jijina, Consultant in Clinical Hematology at PD Hinduja Hospital and MRC in Khar, contributed her knowledge to the discussion by saying, “Factor replacement is the treatment for hemophilia. But there have been a lot of innovations during the past seven or eight years. The use of different monoclonal antibodies is one of the more recent treatments available for hemophilia. These novel compounds work well in patients who are on hemophilia inhibitors and do not require factor concentrates. They are administered subcutaneously, and the 4 mm needle is incredibly little. Patients can avoid the trauma associated with intravenous access as a result.<\/p>\n

“Usually, the treatment is administered just once a month,” she continued. Despite the high cost of these novel treatment modalities, we have found that they are just as effective when administered at lower dosages than in the West. Practically no significant adverse effects exist. It is therefore simple for the patient or caregiver to self-administer. Excellent compliance, fewer hospital visits, less bleeding episodes, and a decrease in worker and school absenteeism have all resulted from this. Patients’ self-assurance and independence have increased. This ends up being quite cost-effective over time.<\/p>\n","protected":false},"excerpt":{"rendered":"

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