World Hemophilia Day

World Hemophilia Day 2026: Advancing Equity in Care.

On April 17 each year, World Hemophilia Day is celebrated worldwide to promote understanding of hemophilia and related disorders, aiming to ensure early detection and accessible care for affected individuals.

The WFH created World Hemophilia Day in 1989 to bring the community together on April 17, the birthday of WFH founder Frank Schnabel. The organization worked to improve the lives of people with hemophilia and other inherited bleeding disorders.

What Is Hemophilia?

Hemophilia is an inherited bleeding disorder in which the blood does not clot properly. Individuals with hemophilia bleed longer than usual because their bodies either lack sufficient clotting factors or produce clotting factors that do not function effectively. Clotting factors are essential proteins in the blood that help stop bleeding and promote healing.

There are two main types of hemophilia: Hemophilia A and Hemophilia B. Hemophilia A, the more common form, results from a deficiency of clotting factor VIII (Factor 8), while Hemophilia B is caused by a deficiency of clotting factor IX (Factor 9).

Hemophilia is typically passed down from parents to their children through genes. These genes carry instructions that determine how the body develops and functions, such as eye and hair color. In individuals with hemophilia, mutations in the genes that encode clotting factors lead to inadequate production or improper function of these proteins, resulting in impaired blood clotting.

The Genetics of Hemophilia.

A fundamental understanding of hemophilia genetics is essential for individuals who suspect a hereditary risk within their families. This knowledge helps in early detection, informed decision-making, and appropriate genetic counseling.

Is Hemophilia Sex-Linked?

Yes, hemophilia is a sex-linked disorder. The inheritance pattern is determined by the X and Y chromosomes, which define biological sex. The gene responsible for hemophilia is located on the X chromosome.

Is Hemophilia Dominant or Recessive?

Hemophilia follows an X-linked recessive inheritance pattern. Females possess two X chromosomes (XX), one inherited from each parent, while males have one X and one Y chromosome (XY). If a male inherits an affected X chromosome from his mother, he will develop hemophilia. Fathers cannot pass the condition to their sons, as they transmit the Y chromosome to male offspring.

Females who inherit one affected X chromosome typically become carriers. Although they usually do not develop the disorder, they can pass the gene to their children. Some carrier females may experience mild symptoms, such as heavy menstrual bleeding, easy bruising, or joint bleeding, due to reduced clotting factor levels. In rare cases, women with significantly low factor levels may be diagnosed with hemophilia.

For a female carrier, each pregnancy carries four possible outcomes:

A daughter who is not a carrier
A daughter who is a carrier
A son without hemophilia
A son with hemophilia

What is the severity of Hemophilia?

The severity of hemophilia is determined by the level of clotting factors present in the blood:

Severe Hemophilia: Factor levels below 1% – accounts for approximately 60% of cases.
Moderate Hemophilia: Factor levels between 1% and 5% – represents about 15% of cases.
Mild Hemophilia: Factor levels between 6% and 30% – comprises roughly 25% of cases.

Understanding these genetic patterns and severity levels is vital for accurate diagnosis, effective management, and informed family planning.

What are the Signs and Symptoms of Hemophilia?

Common signs of hemophilia are primarily related to prolonged or excessive bleeding due to impaired blood clotting. These include:

Bleeding into the joints.
Bleeding into the skin, muscles, and soft tissues.
Bleeding from the mouth and gums: particularly after dental procedures or tooth loss.
Excessive bleeding after circumcision: Male infants with hemophilia may bleed for an extended period following the procedure.
Bleeding after injections.
Intracranial bleeding in newborns: after a difficult or traumatic delivery.
Blood in urine or stool: This may indicate internal bleeding.
Frequent and persistent nosebleeds.

How to Diagnose Hemophilia?

In the United States, most people with hemophilia are diagnosed at a very young age. Based on CDC data, the median age at diagnosis is 36 months for people with mild hemophilia, 8 months for those with moderate hemophilia, and 1 month for those with severe hemophilia.
In about two thirds of cases diagnosed as babies, there is a family history of hemophilia. The diagnosis of hemophilia is made using a special blood test and most babies can be tested soon after birth. Sometimes prenatal genetic testing is done to diagnose hemophilia before birth.
For the one third of babies born with hemophilia in families with no known history of hemophilia, the diagnosis is made when an unusual bleeding event occurs.

Many children with hemophilia are diagnosed before they are 2 years old.

How to Treat Hemophilia ?

The primary treatment for both Hemophilia A and Hemophilia B involves replacing the missing clotting factor to enable proper blood clotting. This is typically achieved through intravenous infusions of commercially manufactured clotting factor concentrates.

For individuals with Hemophilia A, an alternative option includes non-factor therapies that mimic the function of the missing factor VIII. These treatments are administered as subcutaneous injections and can often be self-administered.

Healthcare providers generally recommend treatment in two forms: episodic (on-demand) care and prophylactic (preventive) care. Episodic treatment is used to control bleeding episodes when they occur, while prophylactic therapy involves regular infusions to prevent bleeding and reduce complications.

Many individuals with hemophilia are trained to administer treatments at home. Home-based therapy allows for quicker intervention, leading to better outcomes, fewer complications, and improved quality of life.

Treatment medications:

There is clotting factors products and other treatment products

Clotting factor products:

The two main types of clotting factor concentrates available are:

plasma-derived factor concentrates
recombinant factor concentrates.

Other treatment products like :

Hemlibra® (also known as ACE 910 or emicizumab)
DDAVP® or Stimate® (desmopressin acetate)
Amicar® (epsilon amino caproic acid)
Roctavian® (valoctocogene roxaparvovec-rvox)
Hemgenix® (etranacogene dezaparvovec)

What are the Complications of Hemophilia?

Bleeding
- In both Hemophilia A and Hemophilia B, impaired blood clotting can result in spontaneous internal bleeding as well as excessive bleeding following injuries, medical procedures, or surgery.
- Recurrent bleeding, particularly into the joints—a condition known as hemarthrosis—can lead to chronic joint damage, persistent pain, and reduced mobility over time.
- Individuals with hemophilia are also at risk of life-threatening bleeding, including hemorrhage in the head or brain, which may cause long-term complications such as seizures, paralysis, or even death if not promptly treated.
- The severity and frequency of bleeding episodes and related complications depend largely on the level of clotting factors present in the blood, which determines whether the condition is mild, moderate, or severe. Additionally, excess body weight, as indicated by a higher body mass index (BMI), has been strongly linked to decreased joint mobility and worsened joint outcomes in people with hemophilia.

This is based on the conducted studies :

Schieve LA, Byams VR, Dupervil B, et al. Evaluation of CDC’s Hemophilia Surveillance Program — Universal Data Collection (1998–2011) and Community Counts (2011–2019), United States. MMWR Surveill Summ 2020;69(No. SS-5):1–18. DOI: http://dx.doi.org/10.15585/mmwr.ss6905a1
Witmer C, Presley R, Kulkarni R, Soucie JM, Manno CS, Raffini L. Associations between intracranial haemorrhage and prescribed prophylaxis in a large cohort of haemophilia patients in the United States. Br J Haematol 2011;152(2): 211–216. https://doi.org/10.1111/j.1365-2141.2010.08469.x

A CDC-sponsored randomized clinical trial found that children who were treated on a regular basis to prevent bleeding (prophylactic care) had less evidence of joint damage by 6 years of age than did those who were treated only after a bleed had started (episodic care)

This is based on the conducted study :

1. Manco-Johnson MJ, Abshire TC, Shapiro AD, Riske B, Hacker MR, Kilcoyne R, Ingram JD, … Evatt BL. Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia. N Engl J Med 2007;357(6): 535-544. https://doi.org/10.1056/NEJMoa067659

Hemophilia A in gulf region :

The condition is present in 1 in 5,000 live births; however, its frequency is thought to be higher in the Gulf region due to high rates of consanguineous marriage. While consanguinity does not directly influence the incidences of X-linked disorders as it does for autosomal recessive diseases, it may indirectly increase the incidences of X-linked disorders such as hemophilia A by promoting a homogenous gene pool, which increases the frequency of female carriers within populations and in turn also the risk of disorder transmission.

This according to the study :

https://pmc.ncbi.nlm.nih.gov/articles/PMC11809456/#abstract1

Early diagnosis and timely intervention are crucial for improving outcomes in individuals with hemophilia. Prompt treatment helps prevent complications, reduces the risk of severe bleeding, and enhances overall quality of life.

Your Health Matters !

For More Information About Hemophilia :

Visit our other blog about World Hemophilia Day:

https://theknowhow.ae/hemophilia-awareness/