Friday, April 16, 2021

JULIAN WILLETT'S COLUMN

What is Hemophilia?

Physician summary of this blood disorder.

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Bleeding disorders are uncommon but can be devastating for those with these conditions. Hemophilia is one such condition that can cause excessive bleeding as the body is less able to produce factors needed to form a clot successfully. This article will briefly go over this disorder.

What do I need to know about hematology to understand this article?

Blood clotting is a complex process involving multiple steps. One step is the initial production of a clot that relies on special cells in the blood called platelets. The clot then has to be fortified, which involves the interaction between multiple blood factors. When there are issues with these steps, it can be more challenging for the body to make a clot appropriately.

What is hemophilia?

Hemophilia is where individuals have deficiencies or defects of those clot fortifying blood factors. There are different hemophilia types, termed hemophilia A, B, and C, based on which blood factors are deficient or less functional. Hemophilia A is the most common type¹.

What causes hemophilia?

Hemophilia is produced when there are genetic mutations in the genes that contribute to the formation of properly functioning and adequate quantities of blood factors¹. Individuals can present with symptoms of hemophilia when these mutations are passed on from parent to child.

Who can develop hemophilia?

All ethnicities develop hemophilia at roughly an equal rate¹. It occurs in around 1 in every 10,000 babies¹. It is more common in communities where close blood ties have children together because there is a higher chance that the parents will have mutations in contributory genes¹.

What are the signs and symptoms of hemophilia?

Hemophilia typically presents as individuals bleeding spontaneously or more than would be expected after mild injuries¹. Signs vary depending on how severe an individual’s disease is. Mild disease is typically discovered on routine laboratory tests done for other reasons as individuals only have symptoms in more severe circumstances, like surgery or after severe injuries¹. Moderate disease can present with symptoms after less extreme events, such as after dental work or less severe injuries¹. Severe disease usually shows up within the first few months of an individual’s life¹.

Severe disease, which is typically thought of when thinking of hemophilia, can present acutely with internal bleeding, potentially involving their organs¹. Individuals could present with associated abdominal pain or blood in their stool or urine if an abdominal organ were involved¹. They could have shortness of breath if they developed bleeding in their lungs or airway¹. After injuries to joints, they can bleed into the joints that cause them to become inflamed and painful¹. If they suffer a head injury, they can bleed into their brain or skull and can potentially go into a coma¹.

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How is hemophilia diagnosed?

For mild disease, as mentioned, the diagnosis is typically discovered on tests done for another purpose¹. For families with a history of bleeding disorders, genetic testing is available for pregnant women to learn if they have the mutations that could pass on hemophilia¹. The affected individual can also have blood tests done that measure blood’s ability to clot¹.

How is hemophilia treated?

Given that the disorder is due to not having enough clotting factors, treatment is focused on replacing the deficient factors¹. This is generally done before a bleeding episode because given how severe bleeding can be, prevention is the best strategy¹. If individuals develop a bleeding episode, they receive more clotting factor replacement medication to combat the process¹. Individuals are also advised to avoid activities that could lead to injuries, like contact sports¹.

As for other symptoms, like bleeding into joints, individuals are generally advised to avoid medications that could increase bleeding risk. While medicines like Motrin (Ibuprofen) are usually well-tolerated in most individuals, they can interfere with clotting blood components’ function, platelets from working as well¹. For those without hemophilia, the effect is negligible, but it could make a difference in someone with the disease¹. Thus, close follow-up with a personal doctor would be essential to ensure the patient receives their best possible personalized care with effective care for all their symptoms, including joint pain.

What is the prognosis of hemophilia?

With appropriate treatment, most individuals with hemophilia live as long as those without¹.

Conclusions:

Hemophilia can be a severe disease where someone’s body is less able to clot bleeding. It is due to genetic mutations in the factors that are important in forming a firm blood clot. It can be a severe illness. Fortunately, there are effective treatments for most patients, and those affected with the condition typically have an expected lifespan.

References:

  1. https://www.ncbi.nlm.nih.gov/books/NBK551607/

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JULIAN WILLETT, MD

Medika Columnist

M.D. trained in the US, now researching SARS-CoV-2 and COVID-19 in Canada for his Ph.D. After earning my Ph.D., I will be pursuing an Anatomic Pathology residency embracing my path towards being a physician-scientist. My academic interests are directed towards topics that provide the greatest net benefit for the greatest number of people. I love complicated, messy, and poorly understood topics.

I enjoy writing in my spare time, along with 3D printing and staying connected with my family. I have been a longstanding proponent for global health with projects ranging from supporting Doctors without Borders (MSF) to Syrian refugees (Syrian American Medical Society).

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