Hemophilia C – What is it, Causes, Symptoms and Treatments!

Hemophilia C – What it is, Causes, Symptoms and Treatments  that we cannot ignore. In addition,  hemophilia C , also known as Rosenthal Syndrome, is due to the lack of factor XI, which is involved in the intrinsic pathway of the coagulation cascade. It is a type of hemophilia  that is usually mild but can resemble classic hemophilia C. It affects both sexes. It is often found among Jewish families descended from Ashkenazi Jewish lineages.

Hemophilia C  is an inherited blood disorder where a person lacks or has low levels of certain proteins  called “clotting factors” and the blood  does not clot properly as a result. This leads to excessive bleeding.

There are 13 types of clotting factors, which work with platelets to help the blood clot. Platelets are small blood cells that form in your bone marrow. According to the World Federation of Hemophilia (FMH), about one in 10,000 people are born with hemophilia C.

People with hemophilia C bleed easily, and the blood  takes longer to clot. People with hemophilia C may experience spontaneous or internal bleeding and often have  painful, swollen joints due to bleeding into the joints . This rare but serious condition can have life-threatening complications. So, check out  Hemophilia C – What it is, Causes, Symptoms and Treatments.

The Three Forms of Hemophilia:

Hemophilia A:   This is the most common type of hemophilia C and is caused by a deficiency in factor VIII. According to the National Heart, Lung, and Blood Institute (NHLBI), eight out of 10 people with hemophilia C have hemophilia A.

Hemophilia B:   It is also called Christmas disease, it is caused by a deficiency of factor IX.

Hemophilia C:  It is a mild form of the disease that is caused by a deficiency of factor XI. People with this rare type of hemophilia C usually do not experience spontaneous bleeding. Bleeding  usually occurs after trauma or surgery .

Hemophilia C is an inherited genetic condition. This condition is not curable, but it can be treated to minimize symptoms and prevent future health complications. In extremely rare cases, hemophilia C can develop after birth. This is called “ acquired hemophilia C ”. This is the case in people whose immune systems form antibodies that attack factors VIII or IX.

Symptoms of Hemophilia C: The extent of your symptoms depends on the severity of your factor deficiency. People with mild disabilities may bleed in the event of trauma. People with a severe disability can bleed for no reason. This is called “spontaneous bleeding”. In children with hemophilia C, these symptoms may occur around age 2 years.

Spontaneous Bleeding Can Cause the Following:

• blood  in urine
• blood in the stool
• deep bruises
• Large unexplained bruises
•  excessive bleeding
• bleeding  gums
•  frequent nosebleeds
• joint pain
• tight joints
• Irritability (in children)

Causes of Hemophilia C: A process in your body that is known as the “clotting cascade” normally stops bleeding  . Blood platelets , or gather at the wound site, to form a clot. Then, the body’s clotting factors work together to create a more permanent plug in the wound. A low level of these clotting factors or the absence of them causes bleeding  to continue.

Hemophilia C and Genetics:  Hemophilia C isa hereditary genetic condition, which means it is passed down through families. It is caused by a defect in the gene that determines how the body makes factors VIII, IX or XI. These genes are located on the X chromosome, making hemophilia C  an X-linked recessive disease. Each person inherits two sex chromosomes from their parents. Females have two X chromosomes. Males have one X and one Y chromosome.

Males inherit an X chromosome from their mother and a Y chromosome from their father. Females receive an X chromosome from each parent. Because the genetic defect that causes hemophilia C is located on the X chromosome, parents cannot pass the disease on to their children. This also means that if a man gets the X chromosome with the altered gene from his mother, he will have hemophilia C. A female with an X chromosome that has the altered gene has a 50% chance of passing that gene on to her male or female offspring.

A female who has the gene altered on one of her X chromosomes is typically called a “carrier”. This means that she can pass the disease on to her children, but she does not have the disease herself. This is because she has enough clotting factors from her normal X chromosome to prevent serious bleeding problems .

However, women who are carriers are often at an increased risk of bleeding  . Males with an X chromosome that have the altered gene can pass it on to their daughters, making them carriers. A female must have this gene altered on both X chromosomes to have hemophilia C. However, this is very rare.

Treatment for Hemophilia C: Your doctor may treat hemophilia A with a prescription hormone . This hormone  is called desmopressin, which they can give you as an injection into your vein. This medication works by stimulating the factors responsible for the blood clotting process. Your doctor can treat hemophilia B by infusing your blood  with donor clotting factors. Sometimes factors can be given in synthetic form. These are called “recombinant clotting factors”.

Your doctor may treat hemophilia C with plasma infusion. The infusion works to stop  profuse bleeding . The deficient factor responsible for hemophilia C is only available as a medicine in Europe. You can also go to physical therapy for rehabilitation if your joints  are damaged by hemophilia C.