Each year, on April 17, World Hemophilia Day is observed internationally. As shared by the World Federation of Hemophilia, this year, the theme is, “Access for All: Partnership, Policy, Progress. Engaging your government, integrating inherited bleeding disorders into national policy.” However, in order to effectively execute the theme, we ought to be educated.
Hemophilia, generally, is an inherited bleeding disorder where the blood does not clot properly. There are cases where people develop the disorder later in life. These include, but are not limited to young women who have recently given birth or in the latter stages of their pregnancy.
Having this disorder can lead to spontaneous uncontrollable bleeding or bleeding after injury or surgery.
Why does this happen? Well, blood is composed of proteins known as clotting factors and they help to stop a bleed. However, hemophiliacs have a low occurrence of either factor VIII (8) or factor IX (9). The lower the amount of either factor will determine the severity of the disorder as it occurs in people.
Cause
The bleeding disorder is caused by a mutation or change in one of the genes that provide instructions for making the clotting factor proteins needed to form a blood clot. The mutation has the ability to prevent the clotting protein from working properly. In some cases, it may be missing. The genes mentioned are located on the X chromosome. Males have one X and one Y chromosome (XY) and females have two X chromosomes (XX). Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. Females inherit one X chromosome from each parent.
As shared by the CDC, the X chromosome contains many genes that are not present on the Y chromosome. This means that males only have one copy of most of the genes on the X chromosome, whereas females have 2 copies. As a result, males may have a disease such as hemophilia if they inherit an affected X chromosome that has a mutation in either the factor VIII (8) or factor IX (9) gene. Females can also have hemophilia, however, this is rarer. In those cases, both X chromosomes are affected or one is affected and the other is missing or inactive. In these females, bleeding symptoms may be similar to males with hemophilia.
A female with one affected X chromosome is identified as a “carrier” of hemophilia. Sometimes a female who is a carrier may have symptoms of hemophilia. In addition, she may pass the affected X chromosome with the clotting factor gene mutation to her children.
Here is a graphical representation of what the breakdown looks like.
Source: CDC
Signs and Symptoms
Some tell-tale signs of hemophilia are:
- Bleeding into the joints. This may cause swelling and pain or tightness in the joints; usually, it affects the knees, elbows, and ankles.
- Bleeding into the skin (also known as bruising) or muscle and soft tissue, causing a build-up of blood in the area (called a hematoma).
- Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a tooth.
- Bleeding after circumcision (surgery performed on male babies to remove the hood of skin, called the foreskin, covering the head of the penis).
- Bleeding after having shots, such as vaccinations.
- Bleeding in the head of an infant after a difficult delivery.
- Blood in the urine or stool.
- Frequent and hard-to-stop nosebleeds.
Source: National Hemophilia Foundation
Types of Hemophilia
Many sources identify the two common types of the bleeding disorder, but others exist.
The most common types are:
- Hemophilia A
o This is commonly referred to as classical hemophilia. The symptoms usually vary based on age and severity of the illness. It is generally classified as being either mild, moderate, or severe. People with mild cases of hemophilia may go undiagnosed till adulthood because they usually don’t experience considerable bleeding until they have surgery or experience major trauma.
- Hemophilia B
o Sometimes called the “Christmas disease”, this type is similar to classical hemophilia. Though similarities exist, this type is reportedly four times less common than Hemophilia A.
Most rare forms of the disorder are:
- Hemophilia C
o This is also known as Rosenthal syndrome. Bleeds in this type of hemophilia are generally milder. The spontaneous and internal joint bleeds that are common for other types of hemophilia do not happen with Rosenthal syndrome.
- Acquired Hemophilia
o This type of hemophilia occurs when the immune system does not detect a clotting factor. The bleeding in this type usually happens just below the skin, in the muscles, and in the gastrointestinal tract. The bleeding is often severe and spontaneous which means that it can happen without any clear cause.
Hemophilia and Race
A study conducted by the CDC and the US HTC Network that used data for the period 2012 – 2018 had among its main findings that Black people and people of Asian descent have fewer occurrences of hemophilia when compared with White people and the Hispanic population, where hemophilia rates are high. Interestingly, among the study’s identified gaps was the decreased prevalence of hemophilia in the Black community being reported as unknown. This biggest potential reason for this is countless – such as the lack of access to equitable medical care and coverage, for example.
Addressing the Accessibility Issue
Rita Colorito in a 2021 article for Bleeding Disorders Magazine, HemAware shares, “racial and ethnic disparities in healthcare are nothing new. Black and Latinx people have long struggled with getting others to understand the added barriers they face to receiving necessary and adequate care.”
In the article, Colorito speaks with the first vice president of health equity, diversity, and inclusion at the National Hemophilia Foundation (NHF), Keri Norris, who says, “We know that there are multiple disparities across chronic diseases, including inherited blood disorders…Marginalized populations are often blamed for their own poor health outcomes because many relate their condition mostly to a behavioral choice or poor medication adherence.” She goes on to address unconscious bias and the factors that contribute to it.
The NHF, in 2019, engaged with Black and African American hemophiliacs in a series of listening sessions to better understand the barriers to care that might impact joint health. The sessions took place at the NHF’s Inhibitor Education Summits and Bleeding Disorders Conference.
Though the expected results were clear by those who organized the sessions, more was revealed. Participants made it clear their desires for a space where Black and African Americans with bleeding disorders can communicate with each other, share their experiences, as well as give and get support from people who understand them.
From that, a private online community calledBleeding Disorders and Black Communities was created. It is hosted by HealthUnlocked which is a social health website in the UK.
Hemophilia in Statistics
The World Federation of Hemophilia states that the disease is uncommon. They share that approximately one in 10,000 people are born with the bleeding disorder, and the federation estimates that 400,000 people worldwide are living with hemophilia.
In the US, it is reported that Hemophilia A occurs in every 12 per 100,000 males, and approximately 400 boys are born with the bleeding disorder each year. There are between 30,000 – 33,000 living with hemophilia in the US.
In Jamaica, The Haemophilia Society of Jamaica (HSoJ) raises awareness and advocates for people living with hemophilia in order for them to access treatment. Fewer than 300 Jamaicans are currently known to have the bleeding disorder.
This article is only for informational and educational purposes only. Its content merely touches the surface of a much deeper issue. It should not be used to diagnose. For an in-depth look into hemophilia and other blood/bleeding disorders, you may refer to the sources or engage with a medical professional.
Sources:
What is Hemophilia – Centers for Disease Control and Prevention
Types of Hemophilia – Hemophilia News Today
A New Study of Hemophilia Occurrence Finds Many More Cases in the United States– Centers for Disease Control and Prevention
Recognizing Racial and Health Disparities in Black and Latinx Communities: how the bleeding disorders community is addressing health equity – HemAware, the bleeding disorders magazine
New Online Space for Black/African Americans with Bleeding Disorders – National Hemophilia Foundation
Hemophilia A – National Hemophilia Foundation
Hemophilia Fast Facts – National Hemophilia Foundation
Candice Stewart is a Jamaican content writer specializing in human interest feature stories. She is a web content writer, blogger, and budding podcaster.
She holds an MA in Communication for Social and Behaviour Change and a BSc. in Psychology from the University of the West Indies (UWI, Mona).
Follow her blog at thesuburbangirlja.com, where she shares stories and life lessons through real-life experiences.
