What is Hemophilia?
Hemophilia is a group of inherited bleeding disorders at birth where the blood does not clot. Blood has clotting factors that aid in stopping bleeding. Factors VIII and IX in the blood are the ones that help to control bleeding. But in people with hemophilia, these factors are at a low level. So when a person gets injured or has surgeries the bleeding does not stop. There are three forms or types of hemophilia A, B, and C.
- Hemophilia A is the most common and happens due to reduced factor VIII.
- Hemophilia B develops due to reduced levels of factor IX
- Hemophilia C is the mildest form and is due to factor XI deficiency.
The symptoms of hemophilia depend on the levels of the clotting factor in the blood. Bleeding can happen either externally or internally. The signs of this blood disorder are:
- Easy bruising, any small cut or wound or even a small injury to the tooth can lead to excessive bleeding.
- Sudden nose bleeds.
- Even after bleeding stops, there may be sudden bleeding from that spot.
- Blood in urine or stools due to internal bruising and bleeding.
- Joints, knees, elbows can also bleed and leads to pain and swelling making movement difficult.
- A small bump on the head can lead to brain bleeding and cause behavioral changes, vomiting, headaches, fatigue, clumsiness, vision problems, or even paralysis and seizures.
Who is at Risk?
The hemophilia risk factors that are inherited are:
- People who have a family history of bleeding or hemophilia have a high likelihood of developing this disorder.
- Men are more at risk than women as the defect is found in the X chromosome. So mothers who have this gene pass this defect to their sons. Daughters are rarely affected.
Acquired hemophilia risks are high in:
- People who are suffering from malignant cancers.
- Pregnant women carry the risk of hemophilia
- People who have autoimmune disorders like rheumatoid arthritis can develop bleeds.
- People who are suffering from Hepatitis C, AIDS, and such can develop internal bleeds.
- People suffering from Psoriasis have a high risk of this disorder.
Hemophilia develops due to gene mutations in one of the genes that provide instructions to the clotting factor. Due to this change, the clotting protein is either completely missing or does not work properly. These genes are present on the X chromosomes and since females have two X chromosomes, this condition is inherited from mothers. Females have two copies of X chromosome and males only one, hence they have a disorder like hemophilia if they inherit an affected X Chromosome.
How is Hemophilia Diagnosed?
To do a hemophilia diagnosis the doctor will first do a thorough investigation of the medical and family history of the patient. That will help to identify the cause if the person has symptoms like bleeding problems. A hemophilia doctor will then do a physical examination, like:
- Genetic testing is done to identify the specific mutations responsible for hemophilia.
- Blood tests are ordered as a hemophilia test to identify the time it takes to clot, the clotting factor levels, and what factors are missing. It also helps to understand the severity and type of hemophilia if hemophilia is detected.
- A pregnant woman who is suspected of carrying hemophilia will undergo a fetus test after 10 weeks of pregnancy.
How Is Hemophilia Treated?
Depending on the form, hemophilia treatment is provided, they are:
- Hormone replacement therapy: Hemophilia A is treated by injecting a hormone called desmopressin. It helps to stimulate the blood clotting process. Medicine for hemophilia orally can also be given.
- Recombinant clotting factors: It is blood infusion with clotting factors of the donor blood. Sometimes it is synthetic form too.
- Plasma infusion: Hemophilia cure for form C is used to stop excessive bleeding.
Hemophilia being a genetic condition developed at birth, Pediatricians can determine if your child has this problem. Book your appointment with our specialists at Cure.fit to get it diagnosed and avail proper treatment for this disorder. They are also available through online video consultations.
How can Hemophilia be Prevented?
As of now, there is no direct way for hemophilia prevention at least among those who have inherited a defecting gene that is deficient in clotting factors. Moreover, there is no procedure to determine if the baby has the condition. If hemophilia runs in the family, get tested for this defective gene. If present then one option is to fertilize eggs using in vitro fertilization. Test it for this condition and get only those eggs implanted that do not have this disorder.