World Haemophilia Day 2022: What Is Haemophilia And Why It Is Known As 'Royal Disease' | EXPLAINED

Haemophilia is a sex-linked recessive disease. Therefore, it shows transmission from an unaffected carrier female (heterozygous) to some of the male progeny. A single cut results in non-stop bleeding.

(Left) World Haemophilia Day is observed annually on April 17; (Right) Queen Victoria was believed to have been a carrier of Haemophilia | Credit: Getty Images

New Delhi: Every year, World Haemophilia Day is observed on April 17 to increase awareness of haemophilia and other bleeding disorders, in order to ensure better diagnosis and better access to care for the millions who remain without treatment. 

This year, the theme for World Haemophilia Day is "Access for All: Partnership. Policy. Progress. Engaging your government, integrating inherited bleeding disorders into national policy". 

What Is Haemophilia?

Haemophilia is usually an inherited bleeding disorder in which the blood does not clot properly, which can lead to spontaneous bleeding as well as bleeding following injuries or surgery. Several proteins are present in the blood which can help stop bleeding. These proteins are called clotting factors. 

People suffering from haemophilia have low levels of either clotting factor VIII (8) or clotting factor IX (9). The amount of factor in the blood determines the severity of haemophilia that a person has, according to the Centers for Disease Control and Prevention (CDC), the national public health agency of the United States. 

Haemophilia is a sex-linked recessive disease. Therefore, it shows transmission from an unaffected carrier female (heterozygous individual) to some of the male progeny. A single cut in the affected individual will result in non-stop bleeding. 

Due to the presence of defective forms of blood clotting factors, the exposed blood of affected individuals fails to coagulate.

A sex-linked disease is one which is passed down to the progeny through either of the sex chromosomes, which are the X and Y chromosomes. Sex-linked recessive diseases mostly refer to X-linked recessive diseases. 

An X-linked recessive disease is one in which a genetic trait shows transmission from parent to the child through mutations on the X chromosome. The gene is recessive, and remains latent in carrier females. 

The possibility of a female becoming haemophilic is extremely rare because the mother of that individual has to be at least a carrier, and the father should be haemophilic. This is rarely possible because a haemophilic male becomes unviable in the later stage of his life. Also, a haemophilic female dies before birth. 

Types Of Haemophilia

There are several types of haemophilia. The two most common  forms of the disease are Haemophilia A and Haemophilia B. Haemophilia A, also called Classic Haemophilia, is caused by a lack of or decrease in clotting factor VIII.

Haemophilia B, also called Christmas Disease, is caused by a lack of or decrease in clotting factor IX. Haemophilia A is more severe than Haemophilia B.

A person with Haemophilia A cannot synthesise a normal blood protein called antihaemophilic globulin (AHG) required for normal blood clotting. Therefore, even a very small cut may lead to continuous bleeding for a long time.

In a person with Haemophilia B or Christmas Disease, blood protein plasma thromboplastin is absent. 

According to Dr Mukul Aggarwal, MBBS, MD (Pediatrics), PDCC (Hemato-oncology), DM (Clinical Hematology, AIIMS), Haemophilia A is the most common form of the disorder, present in about one in 5,000 to 10,000 births. He said that around 9,00,000 people worldwide are affected by Haemophilia A. 

"Episodic factor VIII replacement therapy can be taken on demand and administered by the patient or a caregiver. Prophylaxis is another regular treatment involving factor VIII replacement therapies, that helps patients to lead an active quality life," he further said.

Dr Mukul added that early diagnosis and management of haemophilia is important to prevent the growth of complications such as chronic anaemia, haemarthrosis, intracranial haemorrhage, and compartment syndrome.

Haemarthrosis refers to bleeding into the joints, intracranial haemorrhage is the bleeding between the brain tissue and skull or within the brain tissue itself, and compartment syndrome is a painful condition that occurs when pressure within the muscles builds to dangerous levels.

According to Dr Sudhir Kumar Atri, Senior Professor, Department of Medicine, PGIMS, Rohtak, about one-third of babies who are diagnosed with haemophilia have a new mutation not present in other family members.

In these cases, parents who have or have had family members with haemophilia must get their new-born tested for signs of this life-threatening disease, he added. 

"We need to encourage an environment that is customer-focused, fosters knowledge-sharing, and collaboration to improve treatment and care for all Hemophiliac patients," Dr Atri said.

What Are The Signs And Symptoms Of Haemophilia?

The common signs and symptoms of haemophilia include bleeding of the mouth and gums, bleeding after circumcision, bleeding in the urine or stool, and bleeding after having shots, among others. 

According to Lt Colonel (Dr) Kundan Mishra, Associate Professor (Clinically Hematology), Army Hospital (Research and Referral), New Delhi, the symptoms of haemophilia include bleeding into joints, bleeding into the skin causing build-up of blood in the area, which is called a haematoma, frequent and hard-to-stop nosebleeds, and prolonged bleeding after a surgery or injury, among others. 

He also said that World Haemophilia Day serves as a platform on educating haemophilic patients and the public about bleeding disorders and emphasising on the need for proper treatment and a comprehensive care model for people living with this health condition.

Why Is Haemophilia Also Known As 'Royal Disease'?

Haemophilia is also known as 'royal disease' because it affected the royal families of England, Germany, Russia, and Spain in the 19th and 20th centuries.

The family pedigree of Queen Victoria, who ruled England from 1837 to 1901, shows a number of haemophilic descendants as she was believed to have been the carrier of Haemophilia B. 

It is said that Queen Victoria passed on the trait to three of her nine children. Prince Leopold, Duke of Albany, who was the eighth child of Queen Victoria, had haemophilia, and died of a haemorrhage after a fall at the age of 30. 

Queen Victoria's daughters, Alice and Beatrice, passed on the disease to several of their children, the National Hemophilia Foundation, a New York-based charity, said on its website.

Alix, the daughter of Alice, married Tsar Nicholas of Russia, and their son Alexei had haemophilia. 

The disease was carried through various royal family members for three generations after Queen Victoria, and subsequently disappeared.