A Royal Disease: Hemophilia
During the 19th-century British monarch’s son Leopold, Duke of Albany slipped and died of blood loss. Not only once, but Queen Victoria’s grandsons died at a comparatively younger age. Thus, it was thought that male descendants of the royal family are cursed. Hence, the assumed name came Royal disease, and this further made inroads amongst other royal families of European countries as the marriage alliances took place. However, with the advancements of research and technology, modern researchers concluded that the family line suffered from a rare type of Bleeding disorders known as Hemophilia B.
To spread awareness among the masses regarding the same, March is recognized as Bleeding Disorders Awareness Month. Bleeding disorders are disorders that share the common link of deficiency of the blood clotting factors. There are several identified types of bleeding disorders, such as Hemophilia A (factor VIII deficiency), Hemophilia B (factor IX deficiency), Von Willebrand disease, and rare factor deficiencies including I, II, V, VII, X, XI, XII, and XIII.
This article specifically focuses on one of the rare forms of Bleeding disorders, Hemophilia.
What is Hemophilia?
Hemophilia is an inherited bleeding disorder indicated by deficient or non-functional blood clotting factors. Blood consists of many different constituents and proteins, namely plasma, red blood cells, white blood cells, and platelets, which are specialized to perform different functions. People who have Hemophilia are low in blood-clotting proteins, either factor VIII (8) or factor IX (9) in their blood. The low amounts of these factors result in non-clotting of the blood, i.e., blood takes a little longer than usual to clot leading to serious health issues.
What makes Hemophilia a genetic disorder?
Mutation in the F8 gene causes Hemophilia. It is inherited in an X-linked recessive manner. This implies that the gene is located on the X chromosome and changes in both alleles are required for a person to suffer from Hemophilia.
What are the different types of Hemophilia?
Hemophilia can be classified as mild, moderate, or severe, depending on the level of the blood clotting factors in the blood and the severity of the condition. Further, the three main forms of Hemophilia are:
Hemophilia A: It is a result of a lack of the blood clotting factor VIII; approximately 85% of total cases of Hemophilia cases are of type A cases.
Hemophilia B: It is caused by the deficiency of factor IX.
Hemophilia C: Lack of clotting factor XI is described as Hemophilia C.
Who gets affected by Hemophilia?
Hemophilia is a rare disorder and occurs in about 1 of every 5,000 male births. It is known to affect people hailing from all races and ethnicities. According to recent data presented based on surveys from Hemophilia treatment centers for the time period 2012-2018, about 20,000 as many as 33,000 males in the United States are living with Hemophilia.
Hemophilia A is recognized as the most common form of Hemophilia and is about four times as common as hemophilia B. About half of the affected patients were reported to be suffering from the severe form.
What are the signs and symptoms of Hemophilia?
Common signs and symptoms of Hemophilia are:
- Swelling, pain or tightness in the joints due to bleeding into the joints.
- Bruising or hematoma.
- Hard-to-stop bleeding in the mouth, gums, or after losing a tooth.
- Bleeding after having vaccination shots.
- Bleeding in the head of an infant after a difficult delivery.
- Blood in the urine or stool.
- Frequent and hard-to-stop nosebleeds.
Why are males only affected with Hemophilia?
Hemophilia is inherited in an X-linked recessive manner. Males who have only one X chromosome (XY) are almost always affected by the disorder, whereas females who have two X chromosomes (XX) are practically always carriers. Males inherit X from the mother and Y from the father, and thus, if the mother is the carrier of the mutant F8 gene, she passes down the defective allele making the offspring a sufferer of Hemophilia.
However, in rare cases, females are also affected by Hemophilia too. In cases where females inherit both the mutant genes from each parent, females become affected by Hemophilia. There is a misconception that females are only the carriers of Hemophilia and can never be diagnosed with it, thus leading to misdiagnosis when any female Hemophilia case surfaces.
Is Hemophilia fatal?
On the basis of the level of clotting factor in the blood, Hemophilia is classified as mild, moderate, or severe. As per studies, it was observed that about 70 percent of Hemophilia patients have a severe form. The most life-threatening complication with Hemophilia is bleeding in the skull and hemorrhages in the soft tissue around airways or other internal organs.
How is Hemophilia diagnosed?
Hemophilia is diagnosed on the basis of clinical symptoms and specific laboratory tests that measures the number of clotting factors in the blood.
What are the biggest benefits of genetic testing?
Genetic testing is commonly used to detect mutations in people with Hemophilia. Genetic testing, although would not help with the treatment, however, can help estimate the risk of developing mutation, identifying women carriers, helping in diagnosing early and accurately, thereby, helping deciding clinical treatment.
How is Hemophilia treated and can it be cured?
At the moment, there is no cure available in the Hemophilia market. As per DelveInsight’s Hemophilia Treatment Market analysis, the treatment options include Factor Replacement Concentrates, Plasma-derived clotting factors products, and Bypassing agents with the major goal to reduce bleeding and complications rather than targeting the root cause.
What are the future treatments being developed for Hemophilia?
DelveInsight estimates that a lot is cooking in the Hemophilia market with hopes rising from gene therapies. Several types of gene therapies are under investigation that aims to provide one-time treatment to Hemophilia patients. Patients who had successful gene therapy would no longer be required to take factors.
Key pharmaceutical companies like BioMarin Pharmaceutical, Novo Nordisk, Pfizer, Sangamo Therapeutics, Sanofi/Alnylam Pharmaceuticals, Catalyst Biosciences, Roche/Spark Therapeutics, Sigilon Therapeutics, Takeda, and others are developing novel treatment approaches such as extended half-life therapies, siRNA, bispecific antibodies, and gene therapies to target the condition in the Hemophilia market.
However, there are challenges and hurdles in the Hemophilia market growth such as the lack of availability of data on rare diseases that decelerate the pace of the ongoing R&D in the domain. Further, many a time, Hemophilia patients develop resistance antibody—called an inhibitor—to the blood products used to prevent a bleeding episode. It not only complicates the treatment course but also adds to the cost burden. However, a better understanding of the disease has helped to achieve better awareness and knowledge to help, diagnose and treat the condition.