Southern Regional Meeting 2017, New Orleans, LA, February 11-13 ...

Hemophilia Is Rare But A Serious Disorder In Men. Here Are Its Types, Signs, How It Affects Pregnancy, Treatment

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.

Hemophilia is rare but a serious disorder in men. Here are its types, signs, how it affects pregnancy, treatment (Getty Images/iStockphoto) 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.

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 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.

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 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.

Pfizer's Hemophilia Therapy Reduces Bleeding In Late-stage Study

May 30 (Reuters) - U.S. Drugmaker Pfizer Inc (PFE.N) said on Tuesday late-stage study data for its experimental hemophilia therapy showed superiority to the current standard of care treatment in reducing bleeding rates in patients.

The therapy, marstacimab, met its main trial goal, demonstrating superiority to factor replacement therapies, with a 92% reduction in bleeding in patients with severe hemophilia A and moderately severe to severe hemophilia B, Pfizer said.

Hemophilia hampers the body's ability to make blood-clotting proteins, leading to prolonged bleeding following injuries or surgery, and it primarily affects males, according to government data.

The estimated prevalence in the United States is 12 cases per 100,000 males for hemophilia A and 3.7 cases per 100,000 males for hemophilia B.

The current standard of care requires regular infusion of the missing proteins.

Pfizer's once weekly marstacimab is an anti-tissue factor pathway inhibitor that could help initiate blood clotting.

Australian drugmaker CSL Ltd's (CSL.AX) gene therapy Hemgenix offers a long-term solution for hemophilia B patients, but is among the world's most expensive treatments.

Pfizer is developing at least two other therapies for treating hemophilia. Last year in December, the drugmaker met its main goal in a late-stage study for a hemophilia B gene therapy.

The current trial of marstacimab only tested patients who did not have any antibodies that stop the production of the blood-clotting proteins called factor VIII or factor IX.

Pfizer is also testing marstacimab in patients with those inhibitors, with data expected in late 2024.

Reporting by Vaibhav Sadhamta and Aditya Samal in Bengaluru; Editing by Shinjini Ganguli

Our Standards: The Thomson Reuters Trust Principles.

Sobi's Hemophilia A Therapy Gets Review In EU

Md Saiful Islam Khan

The European Medicines Agency (EMA) has accepted and validated Swedish Orphan Biovitrum's (Sobi) (OTCPK:BIOVF) application seeking approval of hemophilia A therapy efanesoctocog alfa.

Sobi and Sanofi (NASDAQ:SNY) have a collaboration for efanesoctocog alfa, which was approved under the name Altuviiio in the U.S. In February for as a once-weekly routine prevention, on-demand treatment and control of bleeding episodes, and perioperative management of bleeding in adults and children with hemophilia A.

Hemophilia A is a genetic bleeding disorder caused by insufficient levels of a blood protein called factor VIII, which helps in clotting of blood.

Sobi said on Friday that the marketing authorization application was backed by data from a phase 3 trial called XTEND-1 in adults and adolescents and a phase 3 study, dubbed XTEND-Kids, in patients <12 years of age.

Efanesoctocog alfa, if approved, will face competition from Swiss pharma giant Roche's (OTCQX:RHHBY) (OTCQX:RHHBF) hemophilia A therapy Hemlibra.

Takeda (TAK), Bayer (OTCPK:BAYZF) (OTCPK:BAYRY), and Novo Nordisk (NVO) (OTCPK:NONOF) have been marketing factor replacement therapies as standard regimens for the indication.

"Today's announcement may represent a crucial step towards improving the lives of people with haemophilia A through a potential new treatment option," said Tony Hoos, head of Research & Development and chief medical officer, at Sobi.

Sobi noted that it has development and commercialization rights in Sobi territory, which consists of Europe, North Africa, Russia, and most Middle Eastern markets. Sanofi has development and sales rights in North America and all other regions excluding the Sobi territory.

---