Hemophilia is a hemorrhagic disorder caused by the inability of the inherited blood to clot properly. This can lead to spontaneous bleeding as well as bleeding after injury or surgery. Hemophilia is caused by a mutation or mutation in a gene that gives clues to how clotting factor proteins help make blood clots. Haemophiliacs have low levels of factor VIII or factor IX in their blood. Hemophilia occurs in men due to the immediate change of the X chromosome.
The genes on the X chromosome contain one copy in males and two in females. As a result, if their biological mother carries the gene, men are more likely to develop hemophilia. Women who have a mutated gene can be carriers and spread the disease to their babies. World Hemophilia Day is celebrated on April 17 every year to raise awareness about this condition. With World Hemophilia Day 2022 Near the corner, Onlymyhealth spoke to the editorial team Dr. Roshan Dixit, Senior Consultant, Hematology & Sister Marrow Transplant, Akash Healthcare, Dwarka, Delhi, Learn about the symptoms, causes and treatment of hemophilia.
Types of hemophilia
Hemophilia is divided into two types: type A and type B. Hemophilia A is a blood disorder that is caused by a deficiency of VIII. Hemophilia type A is four times more common than hemophilia type B. Hemophilia B, also known as Christmas Disease, is caused by a deficiency of clotting factor IX. Haemophilia B affects one in 25,000 men born worldwide.
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Symptoms of hemophilia
A person may experience spontaneous nosebleeds, bleeding from the mouth or gums, easy sores or hematomas, and excessive bleeding or minor injuries after dental or other surgery. In light-skinned people, symptoms do not appear until puberty.
After surgery or trauma, a person with moderate hemophilia may easily and excessively feel trauma as well as excessive bleeding. When a child is five or six years old, doctors can usually diagnose a moderate case.
People with severe hemophilia may experience spontaneous bleeding, which usually occurs in the muscles or joints. It can cause discomfort and swelling. If left untreated, it can lead to arthritis of the affected joints. When a person has a child, doctors can often diagnose serious cases.
Diagnosis of hemophilia
Hemophilia is diagnosed through symptoms, clinical evaluation, personal medical history and another diagnostic test. Blood tests can reveal how long it takes for blood to clot, the level of blood clotting factors, and if no clotting factors are missing. Blood test results can also be used to determine the type and severity of hemophilia.
Treatment of hemophilia
Although there is no cure for hemophilia, doctors can successfully treat this condition. The goal of treatment is to replace the missing protein as well as prevent complications. This includes administration or replacement of clotting factors. We can get clotting factor for transplant therapy from human blood or make it synthetically in the lab.
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Recombinant clotting factors are artificially produced factors. Using DNA technology, this concentration has been genetically engineered. Furthermore, since recombinant factors VIII (8) and IX (9) do not contain plasma or albumin, they are incapable of transmitting blood-borne viruses. Recombinant clotting factors are often the first treatment option for doctors because they reduce the risk of infections that can be found in human blood.
Prophylactic and demand therapy are two types of replacement therapy. People with severe forms of hemophilia A receive regular prophylactic treatment. Mild hemophiliacs may only need on-demand therapy, a treatment that doctors administer only when bleeding is uncontrolled. Other treatment options include bypassing agents, which are used to treat bleeding episodes in people with high titer inhibitors; Products that mimic Factor VIII; And Immune Tolerance Induction Therapy (ITI).