Hemophilia is a rare bleeding disorder caused by genetic mutation that affects the body’s ability to clot blood properly and as per the reports, it affects around one in every 5,000 males born worldwide where the health disorder is inherited from the mother, who may carry the mutated gene and pass it onto her son. Hemophilia is a rare but serious bleeding disorder that affects mostly males.
Types and causes:
In an interview with HT Lifestyle, Dr Akhilesh Sharma, President and Chief Medical Officer at Alkem Laboratories, revealed, “The cause of hemophilia is a deficiency or absence of clotting factors VIII or IX, which are essential for blood clotting. Hemophilia is classified into two types – Hemophilia A, which is caused by the deficiency of clotting factor VIII, and Hemophilia B, which is caused by deficiency of clotting factor IX.”
Dr Shashikant Apte, Senior Consultant – Hematology at Sahyadri Group of Hospitals in Pune, said, “Hemophilia is a rare genetic disorder that affects the body’s ability to form blood clots. It is caused by mutations in the genes that are responsible for producing clotting factors.” According to him, there are two main types of hemophilia:
• Hemophilia A: This type is caused by a deficiency of clotting factor VIII.
• Hemophilia B: This type is caused by a deficiency of clotting factor IX.
He explained, “Hemophilia is an X-linked disorder, which means that it primarily affects males since they cannot repair damage to any gene on the X chromosome with an additional copy as can females since males have only one copy of every gene on the X chromosome. Females are typically carriers of the disease and may pass it on to their children.”
Bringing her expertise to the same, Dr Nivedita Jha, Consultant Obstetrician and Gynecologist at Apollo Cradle and Children’s Hospital in Bangalore’s Koramangala, said, “Hemophilia is a bleeding disorder caused by a problem in one of the genes that are essential for the production of clot-forming substances in the blood. A child with hemophilia does not have enough of a certain clotting factor in their blood.” He classified it into three types, based on which clotting factor is deficient:
- Hemophilia A: This is the most common type of hemophilia and is caused by a deficiency of clotting factor VIII.
- Hemophilia B: Also known as Christmas disease, this type of hemophilia is caused by a deficiency of clotting factor IX.
- Hemophilia C: This is a much rarer form of hemophilia, caused by a deficiency of clotting factor XI.
For example, a child with hemophilia A does not have enough clotting factor VIII (8) in their blood. A child with hemophilia B does not have enough clotting factor IX (9) in their blood.
Dr Akhilesh Sharma shared, “The symptoms of hemophilia vary depending on the severity of the disorder. People with mild hemophilia may bleed more than usual after an injury or surgery, while those with severe hemophilia may experience spontaneous bleeding episodes, joint pain, and swelling.”
Dr Akhilesh Sharma explained, “Hemophilia is more common in males than females because the disorder is linked to the X chromosome. Females have two X chromosomes, while males have one X and one Y chromosome. If a female carries the mutated gene, she has a 50% chance of passing it onto her son. However, if a female has two mutated X chromosomes, she will have hemophilia.”
Dr Shashikant Apte elaborated, “The symptoms of hemophilia can vary depending on the severity of the condition. Some common symptoms include Spontaneous bleeding, Bleeding after injury or surgery, Easy bruising, Joint pain and swelling and Blood in the urine or stool.”
Dr Nivedita Jha listed the common signs of hemophilia as:
- Bleeding into the joints: Mostly affects the joints of the body which include the knees, elbows, and ankles. The symptoms will be swelling, pain, or tightness in the joints.
- Bleeding excessively: If a woman is affected with hemophilia the bleeding will be hard to stop even with a small cut or injury. Performing surgery will also cause them to have a hard time stopping the blood.
- Bleeding after having shots which include the vaccination shots.
- Frequent and hard-to-stop nosebleeds with an unknown cause.
Dr Akhilesh Sharma highlighted, “Unfortunately, there is currently no cure for hemophilia, but the condition can be managed through regular replacement therapy. This involves injecting clotting factor concentrates into the bloodstream to help the blood clot normally. In addition to replacement therapy, people with hemophilia can take steps to manage their condition, such as avoiding activities that may cause injury or bleeding, wearing protective gear when playing sports and seeking medical attention promptly if bleeding occurs. While there is no cure for the condition, it can be managed through replacement therapy and careful management of daily activities. It’s important to seek medical attention promptly if bleeding occurs, and to work closely with a doctor to manage the condition effectively.”
Dr Shashikant Apte echoed, “There is no cure for hemophilia but it can be managed with proper treatment but the main treatment options include Replacement therapy, Desmopressin, Gene therapy and Physical therapy.”
Is hemophilia more common in women?
Dr. Nivedita Jha answered, “No, hemophilia is a genetic disorder that is more common in men than in women. Hemophilia is an X-linked recessive disorder, which means that the gene mutation that causes hemophilia is located on the X chromosome. Females have two X chromosomes, whereas males only have one. Therefore, if a male inherits a faulty X chromosome with the hemophilia gene, he will develop hemophilia. However, females need to inherit two faulty X chromosomes (one from each parent) to develop hemophilia. This is much less common than in males, as females have a second X chromosome that can compensate for the faulty one. As a result, females are usually carriers of the hemophilia gene and have a 50% chance of passing it on to their children.”
How is it affecting pregnancy?
Dr. Nivedita Jha cautioned that women who have the diagnosis of hemophilia (or are carriers of a moderate to severe mutation) are considered at high risk for potential bleeding and pregnancy is a period where women have to be careful, having hemophilia they have to be extremely careful as they may experience other risks too:
- Hemophilia is a bleeding disorder, which has an increased risk of bleeding while pregnancy or while delivering the baby.
- Having extra care during this time will avoid the consequences of having a miscarriage because of the bleeding.
- Being a carrier of hemophilia and pregnant at the same time may lead to having a risky life for the baby as those genes may get passed on to them.
She pointed out that post-pregnancy period is also an important time for women since they take a lot of time to heal and will be having more complications where postpartum complications include:
- Delay in healing and significant bleeding after delivery will lead to risky and concerning complications for a woman’s health.
- At this point of time, women usually have hesitancy in breastfeeding the baby which will lead into having potential risks.
Having medical expert guidance and taking the prescribed medicine will help in having a solution to the disorder. Planning a proper process and treatment is the best way to face complications.