Hemophilia is a uncommon bleeding dysfunction attributable to genetic mutation that impacts the physique's capability to clot blood correctly and as per the studies, it impacts round one in each 5,000 males born worldwide the place the health dysfunction is inherited from the mom, who might carry the mutated gene and go it onto her son. Hemophilia is a uncommon however critical bleeding dysfunction that impacts largely 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, stated, “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 fundamental varieties of hemophilia:

• Hemophilia A: This kind is attributable to a deficiency of clotting issue VIII.

• Hemophilia B: This kind is attributable to a deficiency of clotting issue IX.

He defined, “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 experience to the identical, Dr Nivedita Jha, Consultant Obstetrician and Gynecologist at Apollo Cradle and Children's Hospital in Bangalore's Koramangala, stated, “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 labeled it into three sorts, based mostly on which clotting issue is poor:

• Hemophilia A: This is the most typical kind of hemophilia and is attributable to a deficiency of clotting issue VIII.
• Hemophilia B: Also generally known as Christmas illness, one of these hemophilia is attributable to a deficiency of clotting issue IX.
• Hemophilia C: This is a a lot rarer type of hemophilia, attributable to a deficiency of clotting issue XI.

For instance, a baby with hemophilia A doesn't have sufficient clotting issue VIII (8) of their blood. A toddler with hemophilia B doesn't have sufficient clotting issue IX (9) of their blood.

Symptoms:

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 defined, “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 frequent indicators of hemophilia as:

• Bleeding into the joints: Mostly impacts the joints of the physique which embrace the knees, elbows, and ankles. The signs will probably be swelling, ache, or tightness within the joints.
• Bleeding excessively: If a lady is affected with hemophilia the bleeding will probably be laborious to cease even with a small reduce or harm. Performing surgical procedure may also trigger them to have a tough time stopping the blood.
• Bleeding after having pictures which embrace the vaccination pictures.
• Frequent and hard-to-stop nosebleeds with an unknown trigger.

Treatment:

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 extra frequent in ladies?

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 being pregnant?

Dr. Nivedita Jha cautioned that girls who've the analysis of hemophilia (or are carriers of a average to extreme mutation) are thought of at excessive danger for potential bleeding and being pregnant is a interval the place ladies need to watch out, having hemophilia they need to be extraordinarily cautious as they might expertise different dangers too:

• Hemophilia is a bleeding dysfunction, which has an elevated danger of bleeding whereas being pregnant or whereas delivering the newborn.
• Having additional care throughout this time will keep away from the implications of getting a miscarriage due to the bleeding.
• Being a provider of hemophilia and pregnant on the similar time might result in having a dangerous life for the newborn as these genes might get handed on to them.

She identified that post-pregnancy interval can be an necessary time for girls since they take lots of time to heal and will probably be having extra problems the place postpartum problems embrace:

• Delay in therapeutic and important bleeding after supply will result in dangerous and regarding problems for a lady’s well being.
• At this level of time, ladies often have hesitancy in breastfeeding the newborn which is able to lead into having potential dangers.

Having medical skilled steering and taking the prescribed drugs will assist in having an answer to the dysfunction. Planning a correct course of and remedy is the easiest way to face problems.