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What Is Hemophilia? In Which If Bleeding Starts Then It Does Not Stop!

Hemophilia is a rare genetic disorder characterized by the inability of blood to clot normally, leading to prolonged bleeding. It is a lifelong condition that requires careful management and treatment to prevent complications.

The Anatomy of Hemophilia

Hemophilia is primarily caused by a deficiency in clotting factors, specifically Factor VIII (hemophilia A) or Factor IX (hemophilia B). These clotting factors are essential for the blood to form clots and stop bleeding when blood vessels are injured. Without adequate levels of these clotting factors, individuals with hemophilia experience difficulty in forming clots, resulting in prolonged bleeding episodes.

The Inheritance Factor: Genetics of Hemophilia Hemophilia is typically inherited in an X-linked recessive pattern, meaning that the gene mutation responsible for the disorder is located on the X chromosome. Since males have only one X chromosome (XY), they are more likely to inherit hemophilia if their mother carries the gene mutation. Females, on the other hand, have two X chromosomes (XX), so they are usually carriers of the gene mutation and may pass it on to their children. Types of Hemophilia There are two main types of hemophilia: hemophilia A and hemophilia B. Hemophilia A is caused by a deficiency of Factor VIII, while hemophilia B is caused by a deficiency of Factor IX. The severity of hemophilia can vary depending on the level of clotting factor present in the blood. Individuals with severe hemophilia have very low levels of clotting factor and are more prone to spontaneous bleeding, while those with mild or moderate hemophilia may only experience bleeding after injury or surgery. Symptoms of Hemophilia Common symptoms of hemophilia include excessive bleeding from minor injuries, prolonged bleeding after surgeries, and spontaneous internal bleeding. External symptoms may include large bruises (hematomas), joint pain and swelling due to bleeding into the joints (hemarthrosis), and prolonged nosebleeds. Internal bleeding can occur in the muscles, joints, and other organs, leading to serious complications if not promptly treated. Severity Levels of Hemophilia Hemophilia can be classified into three severity levels: mild, moderate, and severe. The severity is determined by the amount of clotting factor present in the blood. Individuals with severe hemophilia have less than 1% of the normal clotting factor levels and are at the highest risk of spontaneous bleeding. Those with moderate hemophilia have 1% to 5% of normal clotting factor levels, while those with mild hemophilia have 5% to 40% of normal clotting factor levels. Diagnosis and Screening Diagnosing hemophilia often involves blood tests to measure clotting factor levels and assess the blood's ability to clot. Genetic testing may also be performed to identify the specific gene mutation responsible for hemophilia. Screening for hemophilia is recommended for individuals with a family history of the disorder or those who exhibit symptoms such as prolonged bleeding or easy bruising. Treatment Options Treatment for hemophilia aims to prevent bleeding episodes and manage symptoms. The primary treatment involves replacing the missing clotting factor through regular infusions of clotting factor concentrates. These infusions can be administered on a prophylactic basis to prevent bleeding or on-demand to treat bleeding episodes as they occur. Prophylactic Treatment Prophylactic treatment involves regular infusions of clotting factor concentrates to maintain adequate levels of clotting factor in the blood and prevent bleeding episodes. This approach is particularly beneficial for individuals with severe hemophilia who are at a higher risk of spontaneous bleeding. Prophylactic treatment can help reduce the frequency and severity of bleeding episodes, as well as minimize long-term complications such as joint damage. On-Demand Treatment On-demand treatment is administered to control bleeding episodes when they occur. This typically involves infusions of clotting factor concentrates at the first sign of bleeding or injury. On-demand treatment is essential for managing acute bleeding episodes and preventing complications such as excessive blood loss and damage to organs and tissues. Complications and Challenges Complications of hemophilia may arise from prolonged bleeding episodes and inadequate treatment. Chronic joint damage is a common complication, particularly in individuals with frequent joint bleeds. Muscle bleeds can also occur, leading to pain, swelling, and reduced mobility. In severe cases, life-threatening bleeding episodes may occur, particularly in the brain or other vital organs. Living with Hemophilia Living with hemophilia requires ongoing management and support to maintain overall health and well-being. This includes regular medical care, adherence to treatment plans, and monitoring for potential complications. Physical therapy and exercise are also important for preserving joint function and mobility, as well as reducing the risk of bleeds. Support Networks Support networks and advocacy groups play a crucial role in providing resources and support for individuals and families affected by hemophilia. These organizations offer educational materials, financial assistance programs, and opportunities for social interaction and peer support. By connecting with others facing similar challenges, individuals with hemophilia can find encouragement, advice, and solidarity in their journey. Advancements in Treatment Recent advancements in treatment offer promising prospects for improving the management of hemophilia and potentially finding a cure. Gene therapy, in particular, holds great potential for correcting the genetic mutation responsible for hemophilia and restoring normal clotting function. Clinical trials are underway to evaluate the safety and efficacy of gene therapy approaches, with encouraging results reported thus far.  In conclusion, hemophilia is a complex genetic disorder characterized by impaired blood clotting, leading to prolonged bleeding episodes. While there is currently no cure, ongoing research and advancements in treatment offer hope for improved management and potentially a cure in the future. With early diagnosis, comprehensive care, and support from healthcare providers and advocacy groups, individuals with hemophilia can lead fulfilling lives and minimize the impact of the condition on their daily activities. 3 amazing technologies that made car parking easier Everest will be launched, not Ford Endeavour, will Fortuner's glory end? Electric version of this popular SUV is coming, will run 500km on full charge!

World Hemophilia Day 2024: Date, History, Theme And Significance

World Hemophilia Day 2024, observed on April 17th, aims to raise awareness about hemophilia, a rare genetic bleeding disorder that affects blood clotting. This day highlights the importance of equitable access to care and resources for individuals with hemophilia and other bleeding disorders, empowering them to live fulfilling lives. Let's join hands to support and advocate for those affected by hemophilia, promoting understanding and solidarity within our communities.

Date and History of World Hemophilia Day

World Hemophilia Day is observed annually on April 17th to raise awareness about hemophilia, a rare bleeding disorder where blood does not clot properly. The day was established in 1989 by the World Federation of Hemophilia (WFH) to honor Frank Schnabel, the founder of the organization who dedicated his life to advocating for hemophilia awareness and treatment. April 17th was chosen in recognition of Schnabel's contributions.

The term "haemophilia" originated from "haemorrhaphilia," coined by Dr. Schonlein and his student, Friedrich Hopff, at the University of Zurich. While cases of hemophilia have been documented since ancient Egypt, it gained prominence as a "royal disease" in the 19th century when Queen Victoria of England, a carrier of hemophilia B (factor IX deficiency), passed the trait to three of her nine children.

Theme of World Hemophilia Day

The theme for World Hemophilia Day 2024 is 'Equitable Access for All: Recognizing All Bleeding Disorders.' This theme underscores the importance of providing comprehensive support, resources, and medical care to individuals with inherited bleeding disorders, empowering them to lead fulfilling lives unhampered by their conditions.

Significance of World Hemophilia Day

Hemophilia is a genetic disorder that significantly impacts blood clotting ability, causing complications like joint pain, bone issues, swelling, and internal bleeding. Undiagnosed cases can be life-threatening, especially during surgeries or accidents.

World Hemophilia Day serves as an educational platform to raise awareness about the causes, symptoms, diagnosis, and management of hemophilia. It fosters solidarity among affected individuals, families, caregivers, healthcare providers, and advocacy organizations, highlighting the need for continuous research and advancements in hemophilia treatment and care.

Types of Hemophilia

The most common types of hemophilia are A and B, caused by mutations in the F8 and F9 genes respectively, located on the X chromosome. Mutations in these genes lead to reduced or non-functional clotting factors, resulting in bleeding disorders. Hemophilia primarily affects males due to its X-linked recessive inheritance pattern. Females can be carriers of the hemophilia gene without showing symptoms unless they inherit two affected X chromosomes.

Hemophilia C, caused by a deficiency in factor XI located on an autosome, is less common. The severity of hemophilia varies depending on the specific mutation and clotting factor levels in the blood.

This day aims to promote broader understanding and support for individuals with hemophilia and other bleeding disorders, advocating for improved access to care and resources globally.

World Haemophilia Day 2024: Know How Genetic Testing Helps Diagnose The Rare Bleeding Disorder

Hemophilia is a rare bleeding disorder, manifested by the inability of the blood to clot.  The disease occurs due to alterations in genes that regulate our body to stop bleeding.  Hemophila A and B are most common. It is caused by alterations or mutations in F8 or F9 genes respectively on X- chromosomes.  The genes associated with hemophilia A and B, F8 and F9, respectively, provide instructions for producing clotting factors VIII and IX. Mutations in these genes result in reduced or non-functional clotting factors, leading to bleeding disorders. The severity of hemophilia in affected individuals can vary, depending on the specific mutation and the level of clotting factor present in their blood.  Hemophilia C, caused by a deficiency in factor XI located on an autosome, however, is rare.

Dr Dipanjana Datta, BGCI Level II certified Genetic Counselor at Renew Healthcare, Hemophilia A/ B is an X-linked recessive genetic disorder. This means that the affected gene responsible for hemophilia is located on the X chromosome. Since males have one X and one Y chromosome (XY), and females have two X chromosomes (XX), haemophilia primarily affects males. Females can be carriers of the haemophilia gene if they inherit one normal X chromosome and one with a mutation, but they usually do not show symptoms themselves. 

Though, haemophilia A/B have treatment in the form of supplementation of factor and gene therapy, however, males affected with hemophilia suffer from various co-morbidities including joint pain, bone-related issues, swelling, internal bleeds apart from excessive bleeding even in minor injury.  Undiagnosed in case of mild haemophilia, surgery or an accident can cause death. Thus, diagnosis of the disease is of utmost importance. 

Affected individuals are diagnosed through biochemical testing of the factors.  Genetic testing can confirm the diagnosis of haemophilia and help in understanding the specific type and severity of the condition.   A carrier female will have normal factor levels in most cases. Thus, female family members may choose to undergo carrier testing by genetic studies to determine if they carry a mutation in the F8 or F9 gene, which could be passed on to their children. Biochemical testing is not a suitable method as biochemistry might be normal. 

Genetic testing involves analyzing a person's DNA to identify mutations in the F8 or F9 genes from blood or buccal swabs. In cases where there is a family history of haemophilia, invasive diagnostic methods like Chorionic Villi Sampling and amniocentesis followed by specific targeted genetic testing around 11 weeks ( about 3 months )  of pregnancy, can help determine the status of the fetus.   This can help families make informed decisions about the pregnancy and prepare for the care of a child with haemophilia. Alternatively, Preimplantation genetic testing can be performed by taking a biopsy of the embryos formed by IVF on 5 th day and screening for the targeted mutation. This process is called PGT (M), which can help to identify healthy embryos without the trauma of repeated abortions after prenatal diagnosis. 

ALSO READ: World Hemophilia Day 2024: Know causes, symptoms and treatment for inherited bleeding disorder

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