Haemophilia

Haemophilia is a rare, mostly inherited genetic disorder in which, due to a lack of blood-clotting proteins (clotting factors), the blood-clotting (coagulation) does not happen normally, a process required to stop bleeding.

These clotting factors are labeled with roman numerals ranging from 1 to 13 (such as I or X). It is caused by changes, or mutations, in one of two genes that produce clotting factors, F8 and F9. Changes in the F8 gene reduce the amount of factor VIII, whereas changes in the F9 gene reduce the amount of factor IX.

People with haemophilia type A, which is more common, have little or no factor VIII. Haemophilia type B patients have little or no factor IX. The production of these clotting factors can be affected by thousands of genetic mutations in the F8 and F9 genes.

People with haemophilia have either a low or no level of these clotting factors in their blood. The severity of haemophilia depends on the level of clotting factor. If you have haemophilia, you may bleed for a longer period of time after an injury or surgery than if your blood clotted normally. 

This condition is sex-linked in that it is expressed almost exclusively in males but transmitted solely by females; sons of a male with haemophilia are normal, but daughters, while outwardly normal, may transmit the trait as an overt defect to half their sons and as a recessive or hidden trait to half their daughters, as shown in the chart. The main risk factor of haemophilia is inheriting the gene from parents, even if no symptoms are shown. Type “diagnostic center in Guwahati” in Google search bar to get screened for haemophilia today.

TYPES OF haemophilia

1. Haemophilia A (also known as classic haemophilia) is caused by a lack or decrease in clotting factor VIII (8)
2. Haemophilia B (Christmas disease) is caused by a lack or decrease in clotting factor IX (9)
3. Haemophilia Type C (called Factor XI [11] deficiency)

To determine which kind of haemophilia you have or loved one has, type “diagnostic center in Guwahati” in Google search bar

SEVERITY OF Haemophilia

1. Normal (person who does not have haemophilia) – 50%-100% 
2. Haemophilia A (mild) – less than 50% but greater than 5%
3. Haemophilia of moderate severity – 1%-5%
4. Extreme haemophilia – 1% or less

For a listing of labs to get a haemophilia screening test, type “diagnostic center in Guwahati” in Google search bar.

SYMPTOMS

Symptoms vary with severity of the haemophilia

1. Internal and external bleeding episodes, called “bleeds”.
2. People with more severe haemophilia experience more frequent bleeds.
3. Internal bleeding (in patients with moderate to severe symptoms).
4. A joint bleed occurs when blood enters the joint spaces and is the most common type of internal bleeding. 
5. Bleeding in the mouth after tooth brushing
6. Blood in urine or stool

If you want to get tested for haemophilia based on one or more symptoms, do not hesitate to type “diagnostic center in Guwahati” in the Google search bar.

DIAGNOSIS

Bleeding occurs for a long time after penis circumcision, as well as after drawing blood and using heel sticks to draw blood for newborn screening tests. It may also result in bleeding in the head (scalp or brain) following a difficult delivery or the use of special devices or instruments to assist in the delivery of the baby (e.g., vacuum or forceps), as well as unusual raised bruises or a large number of bruises. If a child is not diagnosed with haemophilia while he or she is still a newborn, the family may notice unusual bruising once the child begins standing or crawling. 

1. Prenatal tests: 

• Amniocentesis: Amniocentesis is a procedure that removes amniotic fluid from the uterus for testing or treatment. During pregnancy, amniotic fluid surrounds and protects the baby. This fluid is extracted and sent for testing.
• Sampling of Chorionic Villus: Chorionic villus sampling is possible after the 11th week of pregnancy. During this test, the doctor inserts a thin tube into the placenta—a temporary organ that delivers oxygen and nutrients to an unborn child—to extract a small amount of tissue. The tissue sample is sent to doctors at a specialized laboratory, who look for the genetic mutation in the family member.

1. Physical Examination: Diagnosis of haemophilia can be arrived at by examining outward symptoms a child has experienced, such as nosebleeds, unusual bruises, or blood in the urine or stool. The doctor will also look for raised bruises or swelling around the joints, as well as how much movement your child has in his or her joints.
2. Screening tests are used to diagnose a case of haemophilia. Screening tests are blood tests that show if the blood is clotting properly. Types of screening tests are:

• Complete Blood Count (CBC): This common test determines the amount (the red pigment found inside red blood cells that transports oxygen), the size and number of red blood cells, as well as the number of different types of white blood cells and platelets found in the blood. In people with haemophilia, the CBC is normal. However, if a person with haemophilia experiences unusually heavy bleeding or bleeds for an extended period of time, and red blood cell count may be low.
• APTT (Activated Partial Thromboplastin Time) Test: This test determines the time it takes for blood to clot. It assesses the ability of factors VIII (8), IX (9), XI (11) and XII (12) to clot (12). If any of these clotting factors is deficient, the blood clots more slowly than usual. The results of this test will show a longer clotting time among people with haemophilia A or B. The results of this test will show that people with haemophilia A or B have a longer clotting time.
• Prothrombin Time (PT) Examination: This test also determines how long it takes for blood to clot. It primarily assesses the clotting abilities of factors I (1), II (2), V (5), VII (7), and X. (10). If any of these factors is too low, the blood clots more slowly than usual. The results of this test will be normal among most people with haemophilia A and B.
• Prothrombin Time (PT) Examination: This test also determines how long it takes for blood to clot. It primarily assesses the clotting abilities of factors I (1), II (2), V (5), VII (7), and X. (10). If any of these factors is too low, the blood clots more slowly than usual. The results of this test will be normal among most people with haemophilia A and B.

2. Clotting Factor Tests: Clotting factor tests, also known as factor assays, are needed to diagnose a bleeding disorder. The type and severity of haemophilia are determined by this blood test. Understanding the type and severity is critical for developing the best treatment plan.

Only a doctor can prescribe the right test to arrive at a conclusion about a diagnosis or the extent of prognosis. Type “diagnostic center in Guwahati” in Google search bar to see a specialist today.

COMPLICATIONS

1. Joint bleeds that go untreated can cause permanent joint damage and disfigurement.
2. Although bleeding into soft tissues like muscles and subcutaneous tissues is less serious, it can still cause damage and requires treatment.
3. Bleeding into the throat or neck, causing difficulty in breathing.
4. Deep internal bleeding
5. A negative immune reaction to the clotting factors used to treat bleeding causes an adverse reaction to clotting factor treatment.

Even after treatment, haemophilia complications can lead to more serious problems if not intercepted on time. Type “diagnostic center in Guwahati” in Google search bar to see a specialist today.

TREATMENT

The best way to treat haemophilia is to replace the missing clotting factor.

PREVENTION

1. There is currently no way to prevent haemophilia since it is a genetic inherited disease. 
2. Avoid activities that could result in bodily harm. Type “diagnostic center in Guwahati” in Google search bar to control your haemophilia symptoms.

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