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Hemophilia: 15 Things You Need To Know

Hemophilia is an interesting syndrome in the field of human biology. It’s like a distinct character in the tale of our bodies, and it’s all about our life-giving blood. Hemophilia is an uncommon disease in which even minor injuries can result in significant bleeding. Despite its complexities, Hemophilia has a fascinating allure.

Therefore, hemophilia is a bleeding disorder caused by a deficiency of one of the blood clotting factors. They are inherited bleeding disorders, i.e. there is a history of the disease in the family tree.

Science and determination collaborate to understand it and aid people affected by it. Let’s go into the fascinating realm of Hemophilia, where we’ll learn about its mysteries and the tremendous fortitude of people who tackle its problems straight on.

1. There are three major types of hemophilia

Erbgang Bluterkrankheit.svg, , via Wikimedia Commons

Several types of hemophilia have been discovered but hemophilia A, B, and C are the only ones that have been studied and approved as per the protocols. Apart from hemophilia A, hemophilia B, and hemophilia C, other types of hemophilia are; para hemophilia, acquired hemophilia A, and acquired hemophilia B.

Haemophilia A which is also called Classic haemophilia is caused by the deficiency in clotting factor viii. More than 80% of victims with hemophilia have this type of hemophilia. Hemophilia B, also Christmas disease has 20% of all cases with hemophilia. The disease is caused by a deficiency in clotting factor ix. 

2. All types of hemophilia are x-linked disorders

All kinds of hemophilia are, in fact, X-linked illnesses. This indicates that the hemophilia-causing genetic alterations reside on the X chromosome. As a result, males are disproportionately affected by hemophilia because they inherit one X chromosome and one Y chromosome, whereas females have two X chromosomes.

If a man inherits a defective X chromosome containing the hemophilia gene, he will acquire the disease because he lacks a second X chromosome containing a healthy gene to compensate. Females, on the other hand, are usually carriers because they have a second X chromosome with a healthy copy of the gene, which protects them from full-blown illness.

diagnosis of hemophilia;

XY + XhX = XXh (Carrier)

                    = XhY – Hemophiliac

                    = XY – Normal (normal Male)

                    = XX – Normal (normal Female)

3. The clinical manifestation of hemophilia is not easy to rule out

A woman suffering from Hemophilia.png , , via Wikimedia Commons

Mostly, patients with mild hemophilia may not be diagnosed until they experience severe trauma. The disease, however, is recognized in childhood. Let’s get a glimpse oh how the disease reacts in some so that we are able to pinpoint if we come across someone with these signs.

Some of the manifestations that present with the disease are; hemorrhages into the various parts of the body, unexplained and excessive bleeding from; cuts, injuries, after surgery, or dental work; many large or deep bruises, pain, swelling, and tightness in the joints; blood in urine or stool; nose bleed with no known cause; and unexplained irritability in infant.

4. Hemophilia is an emergency disease with requires immediate care

As a blood clotting disorder, hemophilia is treated as an emergency and requires immediate care because one can lose a lot of blood within no time. some of the emergency sings and symptoms of hemophilia are: sudden swelling, pain, and warmth in large joints in knees, elbows, and hips; bleeding from injury; painful and prolonged headache; extreme fatigue; neck pain; and double vision. 

5. Treatment of hemophilia has numerous contraindications

Anticoagulants such as heparin and warfarin are not recommended for patients with hemophilia since they can exacerbate clotting problems. Drugs that have “blood thinning” adverse effects are also prohibited. Medicines containing aspirin, ibuprofen, or naproxen sodium, for example, should not be used since they are known to induce prolonged bleeding.

Activities with a significant risk of injury, such as riding and skateboarding, are also prohibited. People with hemophilia should avoid popular activities with high rates of physical contact and injury, such as American football, hockey, boxing, wrestling, and rugby. 

Other vigorous sports, such as soccer, baseball, and basketball, have a high likelihood of injury but involve less contact and should be pursued with caution and only after consulting with a doctor.

6. Haemophilia is mostly managed by the introduction of the deficient factor

Bottles of factor viii haemophilia treatment.jpg , , via Wikimedia Commons

As discussed earlier, hemophilia is caused by a deficiency of clotting factors. Therefore, the first step taken to manage this disease is to introduce these deficient factors into the body of the sick person. Take note that mild hemophilia does not need clotting factors. In moderate hemophilia clotting factors are typically only needed when bleeding occurs or to prevent bleeding with certain events.

Preventive usage is frequently suggested twice or three times per week in severe hemophilia and may be continued for life. Rapid management of bleeding events reduces bodily harm. In hemophilia A, factor VIII is utilized, whereas in hemophilia B, factor IX is used.

Factor replacement might be recombinant, extracted from human blood serum, or a mix of the two. Because some persons acquire antibodies (inhibitors) against the replacement factors given to them, the dosage of the factor must be raised or non-human replacement goods, such as pig factor VIII, must be administered.

7. Clotting factors are either given preventively or on demand

Preventive use entails administering clotting factors on a regular basis to maintain clotting levels high enough to prevent spontaneous bleeding episodes. On-demand (or episodic) treatment involves treating bleeding episodes as they occur.

In 2007, a trial comparing the on-demand treatment of boys (30 months) with hemophilia A to prophylactic treatment (infusions of 25 IU/kg body weight of Factor VIII every other day) was published. When the boys were 6 years old, 93% of those in the prophylaxis group and 55% of those in the episodic-therapy group had normal index joint structure on MRI.

Preventative treatment, however, resulted in average costs of $300,000 per year. Most hemophiliacs in third-world countries have limited or no access to commercial blood clotting factor products.

8. Life expectancy of hemophilia victims varies with the severity and adequate treatment

Genetic transmission of hemophilia (HY).svg , , via Wikimedia Commons

Life expectancy, like other elements of the condition, varies with severity and appropriate treatment. People with severe hemophilia who do not receive sufficient, current therapy live significantly shorter lives and frequently do not reach adulthood. Prior to the 1960s, when effective treatment became accessible, the average lifespan was just 11 years.

By the 1980s, the average hemophiliac getting adequate therapy had a life expectancy of 50-60 years. Males with hemophilia often have a near-normal quality of life today, with an average lifetime of around 10 years less than an unaffected guy.

Since the 1980s, the predominant cause of mortality in patients with severe hemophilia has moved from bleeding to HIV/AIDS contracted through treatment with tainted blood supplies. The second main cause of mortality due to severe hemophilia complications is cerebral bleeding, which now accounts for one-third of all hemophilia deaths. Hepatitis infections, which produce cirrhosis, and restriction of air or blood flow owing to soft tissue hemorrhage are two main causes of mortality.

9. Haemophilia has a low birth prevalence rate

Haemophilia A affects roughly one in every 10,000 births (or one in every 5,000 male births) while hemophilia B affects about one in every 50,000 births. Haemophilia affects around 18,000 persons in the United States. Around 400 kids are born with the condition in the United States each year. Haemophilia is more common in men and less common in women. It is believed that around 2,500 Canadians have hemophilia A and 500 have hemophilia B.

10. Judith Graham Pool discovered the method for the production of an antihaemophilic factor

PBB Protein F8 image.jpg , Public domain, via Wikimedia Commons

The method for the production of an antihaemophilic factor was discovered by Judith Graham Pool from Stanford University in 1964. It was initially approved by the U.S. Food and Drug Administration for commercial use. Hoxworth Blood Center University of Cincinnati Medical Center benefited from the approval and it could practice management of hemophilia using the drug legally.

Factor VIII (also known as antihaemophilic factor or AHF) is one of the most essential ingredients, which is why cryoprecipitate is frequently referred to as cryoprecipitate antihaemophilic factor or cryoprecipitate AHF. Although the use of full cryoprecipitate has been supplanted in many clinical situations by the use of clotting factor concentrates manufactured from it (where available), the complete form is still regularly stored by many, if not most, hospital blood banks.

11. Gene therapy is used for those with severe hemophilia

In those with severe hemophilia, gene therapy may reduce symptoms to those that a person with mild or moderate hemophilia might have. The best results have been found in hemophilia B. In 2016 early stage human research was ongoing with a few sites recruiting participants.

In 2017 a gene therapy trial on nine people with haemophilia A reported that high doses did better than low doses. In July 2022 results of a gene therapy candidate for hemophilia B called FLT180 were announced, it works using an adeno-associated virus (AAV) to restore the clotting factor IX (FIX) protein, normal levels of the protein were observed with low doses of the therapy but immunosuppression was necessitated to decrease the risk of vector-related immune responses. It is not currently an accepted treatment for hemophilia.

12. Haemophilia has featured prominently in European royalty

Queen Victoria -Golden Jubilee -3a cropped.JPG , Public domain, via Wikimedia Commons

Because haemophilia has been associated with European monarchy, it is frequently referred to as “the royal disease.” The mutation for haemophilia B was handed down to Queen Victoria’s son Leopold and, through two of her daughters, Alice and Beatrice, to different royals throughout the continent, including the royal families of Spain, Germany, and Russia.

Tsarevich Alexei, Tsar Nicholas II’s son, and heir, was famous in Russia for having haemophilia, which he acquired from his mother, Empress Alexandra, one of Queen Victoria’s grandchildren. Alexei’s hemophilia would propel the Russian mystic Grigori Rasputin to fame at the imperial court.

Queen Victoria’s youngest daughter, Princess Beatrice, gave birth to Victoria Eugenie of Battenberg, who eventually became Queen of Spain. Two of her boys had hemophilia and died in minor vehicle accidents. Her eldest son, Prince Alfonso of Spain, Prince of Asturias, died of internal hemorrhage at the age of 31 after his automobile collided with a telephone booth.

Infante Gonzalo, her youngest son, died at the age of 19 from intestinal hemorrhage after a minor automobile accident in which he and his sister hit a wall while dodging a bicycle. Gonzalo died two days later from internal hemorrhage after neither seemed to be hurt or sought prompt medical attention.

13. Pregnant women with hemophilia are advised to undergo genetic counseling

If there is a family history of the disorder, haemophilia might be identified before, during, or after delivery. Parents have a number of possibilities. To assist in identifying the risk of passing the illness on to a child, genetic testing and counseling are available. A sample of tissue or blood may be tested to check for symptoms of the genetic mutation that causes haemophilia.

A pregnant woman with a family history of haemophilia can be tested for the haemophilia gene. A tiny sample of the placenta is removed from the womb and tested for the haemophilia gene, generally during weeks 11-14 of pregnancy; amniocentesis: a sample of amniotic fluid is collected for testing, usually during weeks 15-20 of pregnancy.

14. There are different mutations In haemophilia

Hemophilia 01 spnsh.jpg , Public domain, via Wikimedia Commons

Each kind of haemophilia is caused by a separate set of mutations. People with haemophilia frequently have some degree of an active clotting factor due to variations in the genes involved. Individuals with less than 1% active factor are classed as having severe haemophilia, those with 1–5% active factor have moderate haemophilia, and those with mild haemophilia have between 5% and 40% of normal levels of active clotting factor.

15. Von Willebrand Disease is similar to haemophilia

A Finnish doctor found a genetic bleeding illness comparable to haemophilia in Land, southwest Finland, in 1924. “Von Willebrand Disease” is the name given to this bleeding condition.

The most prevalent genetic blood-clotting illness in humans is Von Willebrand disease (VWD). Other medical issues can occasionally result in an acquired form. It is caused by a lack of quality or quantity of von Willebrand factor (VWF), a multimeric protein essential for platelet adhesion. It is known to affect a variety of canine breeds as well as humans.

As we wrap up our exploration of hemophilia, remember its rarity and the importance of ongoing research and support. In every challenge, there’s a chance for resilience and discovery. Together, we’re on the path of progress, working to support the health of those facing hemophilia’s mysteries.