Diagnosis
Many parents request that their children get tested for hemophilia after birth. Most babies are checked if they show any of the related symptoms. The diagnosis of hemophilia includes screening tests and clotting factor tests.
Screening tests
Screening tests are specialized blood tests that show whether or not blood clots properly. Depending on the situation different types are applied. They are as follows.
Complete Blood Count (CBC) Test:
This is a very common type of test that is used to measure the amount of hemoglobin in the blood. It also checks the size and approximate number of red blood cells, the number of different types of white blood cells, and well as the amount of platelets in the body. Those who have long bleeding periods can be seen to have less hemoglobin and red blood cells in the body.
Activated Partial Thromboplastin Time (APTT) Test:
This test is used to test how long it takes for blood to clot. To do so, they measure the clotting abilities of the clotting proteins, especially VII (8), IX (11), XI (9) and XII (12). If the ability of these proteins to clot is low, then it is clear that it takes longer for blood to clot. Thus resulting in the clotting periods of someone who has either hemophilia A or B.
Prothrombin Time (PT) Test:
This test is similar to the APTT Test listed above, as it also measures the time it takes for the blood to clot. However, it measures the clotting ability of different clotting factors. These include I (1), II (2), V (5), VII (7) and X (10). Again, if any of these factors are low, it takes a much longer period of time for the blood to clot than normal. This clotting test will mostly test normal for people with hemophilia A and B and will appear off for those with hemophilia C.
Fibrinogen Test:
This test is more or less a doctor's last resort. It is generally used for patients who have abnormal results in either the PT or APTT tests. It is used to assess a patient's ability to clot blood, and mainly tests the clotting factor I (1).
Complete Blood Count (CBC) Test:
This is a very common type of test that is used to measure the amount of hemoglobin in the blood. It also checks the size and approximate number of red blood cells, the number of different types of white blood cells, and well as the amount of platelets in the body. Those who have long bleeding periods can be seen to have less hemoglobin and red blood cells in the body.
Activated Partial Thromboplastin Time (APTT) Test:
This test is used to test how long it takes for blood to clot. To do so, they measure the clotting abilities of the clotting proteins, especially VII (8), IX (11), XI (9) and XII (12). If the ability of these proteins to clot is low, then it is clear that it takes longer for blood to clot. Thus resulting in the clotting periods of someone who has either hemophilia A or B.
Prothrombin Time (PT) Test:
This test is similar to the APTT Test listed above, as it also measures the time it takes for the blood to clot. However, it measures the clotting ability of different clotting factors. These include I (1), II (2), V (5), VII (7) and X (10). Again, if any of these factors are low, it takes a much longer period of time for the blood to clot than normal. This clotting test will mostly test normal for people with hemophilia A and B and will appear off for those with hemophilia C.
Fibrinogen Test:
This test is more or less a doctor's last resort. It is generally used for patients who have abnormal results in either the PT or APTT tests. It is used to assess a patient's ability to clot blood, and mainly tests the clotting factor I (1).
Clotting factor test
Clotting factor tests are essential when diagnosing someone with a blood disorder. Using these tests we are able to determine the severity of the person with hemophilia and the type of hemophilia they have. It is crucial to understand the severity of the disorder and they type, that way the most suitable treatment plant can be initiated. The results of the test show the amount of clotting factor in ones blood, and place people in the following categories of severity;
Severity: Level of Clotting Factor in Blood:
Normal (no hemophilia) 50% - 100%
Mild hemophilia Greater than 5%, less than 50%
Moderate hemophilia 1% to 5%
Severe hemophilia Less than 1%
Severity: Level of Clotting Factor in Blood:
Normal (no hemophilia) 50% - 100%
Mild hemophilia Greater than 5%, less than 50%
Moderate hemophilia 1% to 5%
Severe hemophilia Less than 1%
Treatment
Hemophilia is a disorder that cannot be cured. Once you have it there is no going back. However, there are methods and therapies used to make the live's oh hemophiliacs easier. They provide relief and help reduce the severity of the disorder. The following are examples of existing and future treatments systems put forth.
Replacement therapy
The main treatment used for hemophiliacs is called replacement therapy. As the name might suggest, the use of this therapy is to provide missing clotting proteins in the bloodstream. This therapy injects concentrates of clotting proteins into a vein of the hemophiliac, thus replaces the clotting factors missing or of high deficiency. Factor VIII is injected to those with hemophilia A, factor IX is injected in those with hemophilia B and XI for those with hemophilia C.
These concentrates of clotting factors are mainly made from human blood, from those who do not have hemophilia. The blood extracted is treated so that any diseases, such as hepatitis cannot be spread. Overall, the risk of getting an infectious disease is very unlikely from these human clotting factors.
There are those who have replacement therapy on a daily basis, in this case it is called prophylactic therapy, also referred to as preventive therapy. This therapy is used to prevent bleeding on a day to day basis. But can be used regularly to stop bleeding that has occurred. If this is the case it is called demand therapy, where blood is transfused on an as-needed basis. Since demand therapy is used less intensively it is less expensive that preventive therapy.
The figure below shows how replacement therapy is used to help stop bleeding.
These concentrates of clotting factors are mainly made from human blood, from those who do not have hemophilia. The blood extracted is treated so that any diseases, such as hepatitis cannot be spread. Overall, the risk of getting an infectious disease is very unlikely from these human clotting factors.
There are those who have replacement therapy on a daily basis, in this case it is called prophylactic therapy, also referred to as preventive therapy. This therapy is used to prevent bleeding on a day to day basis. But can be used regularly to stop bleeding that has occurred. If this is the case it is called demand therapy, where blood is transfused on an as-needed basis. Since demand therapy is used less intensively it is less expensive that preventive therapy.
The figure below shows how replacement therapy is used to help stop bleeding.
Desmopressin
![Picture](/uploads/1/9/0/5/19057073/759635164.jpg)
Desmopressin is a hormone that is man-made. It can only be used to treat those with mild hemophilia. It is used to release stored clotting factor VIII in the blood, as well as increasing the amount of the protein in the bloodstream.
It can be injected into a vein or given as a nasal spray. The effects of the medicine wears off and is therefore used quite often. It cannot be used on a daily basis, only when certain cases occur where you need to go to a dental appointment or have a sports event coming up. It helps prevent bleeding during these activities so that hemophiliacs can live a normal life.
It can be injected into a vein or given as a nasal spray. The effects of the medicine wears off and is therefore used quite often. It cannot be used on a daily basis, only when certain cases occur where you need to go to a dental appointment or have a sports event coming up. It helps prevent bleeding during these activities so that hemophiliacs can live a normal life.
Antifibrinolytic medicine
![Picture](/uploads/1/9/0/5/19057073/959276603.jpg?284)
Antifibrinolytic medicine is used with replacement therapy to reduce the amount of bleeding. They are given as pills to help keep blood clots from breaking. Like desmopressin, they are not to be used on a daily basis, only on occasion where physical contact can be found such as dental appointments.
Gene therapy
gene therapy is a process in which correct genes are injected within an individual to correct faulty genes that one was born with, in this case hemophilia. However, gene therapy hasn't been developed to the point in which it can be used as a suitable treatment for hemophilia. Currently, it is being tested and is expected to be used as an effective treatment if not cure for hemophilia in the next 10 years.
Future technology
New technologies are being implemented into the study of hemophilia to help advance the treatment process. these technologies have been tested to destroy viruses in blood, and have been successful in getting rid of HIV and hepatitis C from clotting factors. This is on a virtual level however and must enter clinical trial before being used in the real world. Millions of dollars and scientists are investigating genetically manufactures products that can be used a alternatives for hemophilia treatments that are derived from little to no human blood.