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Causes and Symptoms of Hemophilia

Hemophilia is a genetic disorder, which is marked by improper blood clotting. In this bleeding disorder, a person suffers from low levels of certain proteins called clotting factors, which aid in the process of blood clotting. There are 13 types of factors that combine with platelets to help in the formation of a blood clot. People who suffer from hemophilia start bleeding due to minor reasons and their blood takes a very long time to clot.

Causes of Hemophilia

Depending on the type, the causes of hemophilia can vary. There are three types of hemophilia, namely hemophilia A, B, and C.

• Hemophilia A, the most commonly occurring form, is caused by a deficiency of factor VIII.
• Hemophilia B, also known as Christmas disease, is caused by the lack of factor IX.
• Hemophilia C, on the other hand, occurs due to the lack of factor XI.

However, hemophilia is a genetic condition, which usually passes down from generation to generation. A defect in the genes, which causes the body to make factors VIII, IX, or XI causes the condition. These particular genes are located in the X-chromosomes and, thus, it makes hemophilia an X-linked recessive disorder.

What are the symptoms of hemophilia?

The intensity of symptoms would depend upon the seriousness of the factor deficiency. A person with a serious deficiency may bleed for no apparent reason, which is also known as spontaneous bleeding.

Some of the symptoms of this bleeding disorder are:

- Blood in the urine and stool
- Large, deep bruises
- Excessive bleeding
- Bleeding gums
- Frequent nosebleeds
- Pain and stiffness in the joints
- Irritability and anxiety
- Severe headaches
- Repeated vomiting
- Neck pain
- Cloudy or foggy vision
- Extreme sleepiness

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Tip: Does Your Blood Group Make You Prone To Certain Health Issues?

Women during pregnancy are more prone to blood clots. The occurrence of blood clots during pregnancy is more commonly known as DVT or deep-vein thrombosis in the medical world. Deep-vein thrombosis refers to a condition in which blood clots form in the veins of the pelvic region or legs. Blood clots during pregnancy definitely aggravate the risks associated with pregnancy. Women generally experience blood clots in the first three months of their pregnancy.

The symptoms of blood clot during pregnancy include:

1. You may notice swelling in the calf and thigh region.
2. Pain sensation in your pelvic and leg region.
3. Feeling of pain in the legs while walking.
4. If the condition is severe, then it may lead to chest pain or breathing troubles.

Treatment:

Deep-vein thrombosis or blood clot during pregnancy may become fatal in nature if it results in Pulmonary Embolism, where the blood vessels of the lungs get affected. Blood clot in pregnant women can be treated by prescribing an anticoagulant which helps to prevent the blood from clotting further.

Blood clot during pregnancy may be prevented in the following ways:

• A healthy lifestyle can help you to prevent blood clots.
• Exercising regularly is extremely beneficial for proper blood circulation and can also help you to prevent blood clots.
• Do not lead a sedentary lifestyle; a sedentary lifestyle is pretty much always the menace.
• Seeking a doctor’s advice at an initial stage is very important to avoid further complications such as heart attacks or miscarriage.

In case you have a concern or query you can always consult an expert & get answers to your questions!

Hemophilia is an inherited genetic disorder that impairs the body's ability to make blood clots because it lacks sufficient blood-clotting proteins (clotting factors).

Epidemiology
Hemophilia is rare, and it has only about one instance in every 10,000 births for hemophilia A and 1 in 50,000 births for hemophilia B. Hemophilia usually occur in males.

Types
There are two main types of hemophilia:

1. Hemophilia A: It occurs due to unavailability of enough clotting factor VIII.
2. Hemophilia B: It occurs due to unavailability of enough clotting factor IX.

Other types include:

1. Hemophilia C: It occurs due to unavailability of enough clotting factor XI.
2. Parahemophilia: It occurs due to unavailability of enough clotting factor V.
3. Acquired hemophilia: It is associated with cancers, autoimmune disorders, and pregnancy.

Causes
When a person bleeds, the body pools blood cells together to form a clot to stop the bleeding. The clotting process is encouraged by certain clotting factors.

Acquired hemophilia is a rare variant of the condition. It occurs when a person's immune system attacks clotting factors in the blood. It can be associated with the following factors:

• Pregnancy
• Autoimmune conditions
• Cancer
• Multiple sclerosis

Signs and Symptoms
It may vary, depending on the level of clotting factors. If the clotting factor level is mildly reduced, the patient may bleed only after surgery or trauma. If the deficiency is severe, the patient may experience spontaneous bleeding symptoms which include following signs and symptoms:

1. Unexplained and excessive bleeding from cuts or injuries, or after surgery, or dental work
2. Unusual bleeding after vaccinations
3. Blood in urine or stool
4. Nosebleed
5. Many large or deep bruises
6. Pain, swelling, or tightness in joints
7. In infants, there is presence of unexplained irritability
8. Bleeding into the brain leading to painful and prolonged headache, repeated vomiting, sleepiness or lethargy, double vision, sudden weakness or clumsiness, convulsions, or seizures

Complications
• Deep internal bleeding
• Damage to joints due to internal bleeding causing arthritis or destruction of the joint
• Infection due to blood transfusions
• In few people with hemophilia, the immune system has a negative reaction to the clotting factors used to treat bleeding. The immune system develops proteins (known as inhibitors) that inactivate the clotting factors, which make the treatment less effective

Diagnosis
• Can be made with positive family history
• A blood test can show a clotting-factor deficiency in children and adults
• Some people come to know they have hemophilia after they bleed excessively during a surgical procedure

Treatment
• Replacement of the specific clotting factor that body needs
• Desmopressin (DDAVP): This hormone can stimulate your body to release more clotting factor
• Clot-preserving medications (antifibrinolytic)
• Fibrin sealants: Applied directly to wound sites to promote clotting and healing

In case you have a concern or query you can always consult an expert & get answers to your questions!

Clotting of blood is important for us in case of an injury or wound. It prevents the blood to ooze out of the body from any opening. Our blood releases cells called blood platelets, which initiate the process of clotting. However, the clotting of blood inside the veins is not a good thing to happen. This condition is called thrombosis. Moreover, clotting during pregnancy is a serious condition that poses threat to the health of both the mother and the child. In case of pregnant women, clotting of blood starts in the deep veins. These veins are usually the ones in the legs or the pelvic region. This condition is termed as deep vein thrombosis (DVT).

Why there is a clot during pregnancy?
Blood can clot during pregnancy due to multiple reasons. Clotting occurs to prevent too much loss of blood at the time of labour. 

How will you know that it’s DVT?
DVT comes along with certain symptoms. Some of these have been listed below:

1. The pregnant woman may notice tenderness or swelling in one of her legs. She might feel the pain in one of the legs.
2. The skin colour of the woman starts reflecting changes. The skin might turn a little reddish.
3. The patient’s skin will be warmer at the site of clot.
4. The veins in the affected region might look dilated or larger in size.

What are the dangers linked to this clotting?
Whatever may be the reason, clotting during pregnancy is always attached to some dangerous consequences. If the blood clot is left unattended and untreated for long, it may have some serious consequence. The clot may start shifting from your legs to one or both of your lungs. This condition is called pulmonary embolism (PE). It is acute condition that can cause death of the patient as well. The symptoms of PE are as follows:

1. The patient suffers from sudden breathlessness.
2. The patient may feel that there is some tightness around the chest.
3. The patient may find blood in her cough.
4. The patient may show signs of collapse.

Clotting of blood can also prove detrimental to the baby’s health and growth. The blood is supplied through placenta to the baby and a clot in the mother’s vein can decrease the amount of blood supplied to the baby. Sometimes, the blood supply to placenta might be entirely snapped, leading to the death of the child inside the womb. However, blood clotting at the time of pregnancy happens to only a few women. It has been found that one or two in thousand die due to clotting of blood during pregnancy. If you wish to discuss about any specific problem, you can consult a doctor and ask a free question.