hemophilia

hemophilia is a rare blood disorder. it is hereditary in nature, and most often develops due to mutations in the genes responsible for creating clotting factors (proteins that drive clotting) in the body. in some rare cases, a person who doesn’t have the gene mutation at birth can develop hemophilia.

when blood vessels tear, platelets and clotting factors enter the tear and work to cause clotting so that bleeding isn’t excessive. in hemophilia, there are not enough of these clotting factors, leading to an increased risk for heavier bleeding and bruising.

there are several types of hemophilia, and each can be mild, moderate, or severe depending on the person. the two most common types, a and b, make up the majority of hemophilia cases. the types are:

type a: the most common type that occurs when a person doesn’t have enough clotting factor 8.

type b: occurs when a person doesn’t have adequate levels of clothing factor 9. it is the second most common type.

type c: the second-rarest type that occurs when a person’s body doesn’t produce enough clotting factor 11.

acquired: the rarest type that occurs when a person’s immune system cells begin attacking clotting factors, leading to a reduced number and increased chances for dangerous bleeds.

all types of hemophilia can range in severity, and in some cases, the condition can be life-threatening. signs and symptoms of hemophilia include large bruises after minor injuries, bleeding for a longer time than what is typical, or bleeding for no reason. the type of bleeding that occurs depends on the severity of the disease.

people with more severe forms are more likely to experience spontaneous bleeds, such as a nosebleed. those with mild or moderate may have unusual bleeding after a major injury or surgery or bleed for a longer time after an injury, respectively.

in some cases, internal bleeding in the joints or muscles can occur, causing pain, swelling, and aches in the joints. bleeding into the brain can also occur in severe types, leading to persistent headaches, double vision, or excessive fatigue. brain bleeds, if severe enough, can be life-threatening.

diagnosing hemophilia consist of various blood tests to check for platelet counts and how quickly the blood clots. medical providers may also look for levels of specific clotting factors to diagnose the disease.

various treatments are available for hemophilia, including replacement therapy, where human plasma or lab-made clotting factors are reintroduced into the body to replenish levels. this type of therapy is ongoing, and people typically require regular replacement therapy sessions.

other forms of treatment include:
• medications that keep blood clots from breaking down
• prophylactic clotting factor infusions

there is no way to prevent hemophilia, and a person will need medical treatment for life if they have it. the lifespan associated with hemophilia is similar to those in the general population due to improved treatments over the last few decades.

living with hemophilia can be difficult, and research continues to look for new ways to treat all types of the condition to help improve the quality of life of those living with the disease.