April 17 is World Hemophilia Day in 2023. It was originally created by the World Federation of Hemophilia in 1989,to honor the founder of the organization’s birthday, Frank Schnabeland increase the awareness of the disease as well as those who suffer from it. The theme of the event this year is “Access for All: Prevention of bleeds as the global standard of care”. Building on last year’s theme, the call to action for the community in 2023 is to come together and advocate with local policy makers and governments for improved access to treatment and care with an emphasis on better control and prevention of bleeds for all people with bleeding disorders (PWBDs).
Hemophilia is a combination of the Greek words for “blood” and “love”,a way of saying that people with hemophilia "love to bleed”,or rather that it's hard to stop bleeding.This is because the process called hemostasis,literally meaning to stop the flow of blood,has been damaged. Hemophilia includes different types. The symptoms are generally similar, but the complications and treatment methods are different. Many people don't know much about hemophilia, and hemophilia is easy to be misdiagnosed in the early stage of onset, so this article is divided into six parts as follows:
What is hemophilia?
What about its classification?
What are the symptoms of hemophilia?
Why does it happen?
How to detect it?
How to control it?
What is hemophilia?
Hemophilia is not a common disease. It is generally highly hereditary and can be inherited by both men and women. It usually occurs in childhood. Hemophilia is actually a coagulation disorder, most of which are hereditary. People with this disease have very low levels of active thrombin in their bodies, and there is no way to generate active thrombin by themselves, so once such patients bleed, it will be difficult to stop the bleeding.It is clinically believed that hemophilia is mainly caused by the lack of coagulation factors. The human body contains platelets and coagulation factors. When there is a lack of clotting factors in the body,it is hemophilia.
Because it is highly hereditary, it is not recommended for people with hemophilia to have children. If you are pregnant, you must go to pregnancy checkups regularly and conduct hemophilia screening. Once blood is found Pregnancy must be terminated in time due to the presence of palliative disease.
What about its classification?
Hemophilia can be divided according to the type of coagulation factor deficiency. Coagulation factors are a group of proteins in the blood that can help blood coagulate, and there are mainly thirteen kinds. If there is a lack of one of these coagulation factors, the blood is not easy to coagulate.
Hemophilia A: Deficiency of factor VIII.
Hemophilia B: Deficiency of factor IX.
Hemophilia C: Deficiency of factor eleven.
Among them, type A accounts for about 80% to 85%, and type B accounts for about 15% to 20%. Patients with type C hemophilia are rare and mild symptoms belong to individual recessive inheritance. Symptoms can occur in both men and women. In addition, there are acquired hemophilia patients.
Hemophilia can be classified according to the concentration of clotting factors in the blood:
Mild: blood coagulation factor concentration between 5% and 30%
Moderate: between 1% and 5% of coagulation factor concentration
Severe: coagulation factor concentration < 1%
The severity of hemophilia varies from person to person, and people with mild hemophilia only have bleeding problems during severe trauma or surgery. People with moderate hemophilia bleed less frequently, perhaps once a month, usually from trauma, and some patients may bleed spontaneously. Bleeding into muscles or joints is common in people with severe hemophilia. They may bleed once or twice a week. Bleeding is usually spontaneous, meaning there is no apparent cause, but bleeding occurs nonetheless.
The symptoms of hemophilia
1. Mucocutaneous bleeding
People with hemophilia often experience mucosal bleeding, which usually manifests in the mouth and gums, and also in some subcutaneous parts, such as the head. Patients often have hematomas on their bodies, which are obviously tender to the touch.
2. Hemarthrosis
Can cause joint bleeding and can lead to joint inflammation. When the patient is walking, he will feel abnormal pain in the joints. Therefore, these patients basically seldom exercise. Hemarthrosis mainly occurs in the shoulder joints and elbow joints, and some patients also have hemorrhagic joints in the knee joints and ankle joints. Blood
3. Muscle bleeding
The patient's body is generally thin and the muscles are very obvious. However, the patient's muscles will show bleeding symptoms, and large areas of bruises can be seen all over the body. This kind of bruise is difficult to fade and basically lasts for life.
4. Bleeding from trauma
Once a hemophiliac suffers an injury, it is difficult to stop the bleeding from the wound. Bleeding often occurs incessantly, and later, there will be excessive bleeding, leading to severe hypotension and anemia in patients.
How does it happen?
Normally, after a cut and damage to the endothelium, or inner lining of blood vessel walls,there's an immediate vasoconstriction or narrowing of the blood vessel,which limits the amount of blood flow.Then, some platelets adhere to the damaged vessel wall, and become activated,and then recruit additional platelets to form a plug.The formation of this platelet plug is called primary hemostasis.After that, the coagulation cascade is activated.First off the bloodlhas aset of clotting factorsmost of which are proteins synthesized by the liver,that are inactive and simply float around the blood.The coagulation cascade begins when one of these proteins gets proteolytically cleaved.This active protein then proteolytically cleaves and activates the next clotting factor, and so on.This cascade has a great degree of amplification and takes only a few minutes from injury to clot formation.The final step is activation of the protein fibrinogen (Factor I) to fibrin,اwhich deposits and polymerizes to form a mesh around the platelets.So these steps leading up to filbrin reinforcement of the platelet plug make up the process called secondary hemostasis,and results in a hard clot at the site of the injury.In most cases of hemophilia,there is a decrease in the amount or function of one or more of the clotting factors that makes secondary hemostasis less effective and allows more bleeding to occur.
On the other hand, people can acquire all genetic disorders spontaneously by mutation, rather than inheriting it, because of a new mutation in one of their parents’ gametes. Spontaneous mutations estimate about 33% of all cases of hemophilia A.
About 30% of states of hemophilia B are the outcome of a spontaneous gene mutation.
How to detect it?
Your health provider will suggest the clinical examination:
1. General items
The platelet count is normal, the beam arm test is negative, the bleeding time is normal, the clot retraction is normal; the prothrombin time is normal, the thrombin time is normal, the fibrinogen quantification is normal; the prolongation of the coagulation time is the characteristic of this disease, but only in FⅧ:C The activity is prolonged when it is lower than 1% to 2%, and >4% is normal.
2. Preliminary screening test
Prothrombin depletion test (PCT ), kaolin partial thromboplastin time (APTT, when the activity of Ⅷ and Ⅸ is 30%, can be prolonged, and can detect mild cases), simple thromboplastin generation test (STGT) is helpful In the diagnosis of mild and severe hemophilia A, B.
3.Determination of FⅧ, FIX, FⅪ activity
Using the prothrombin time one-phase method, the plasma known to be deficient in relevant factors is used as the matrix plasma, and after adding rabbit brain extract, kaolin suspension, calcium chloride and different dilutions of plasma or serum, the relevant factors are made according to the coagulation time After the activity curve, the tested samples were converted.
4. FⅧR: Determination of Ag
The plasma content of hemophilia A patients is normal or increased.
5. FⅧ: Determination of CAg
In patients with hemophilia A, plasma VIII:CAg decreases in parallel with VIII:C.
6.VWF: Determination of Ag
Normal or elevated in patients with hemophilia A.
Confirmatory tests
7. APTT, STGT, Biggs thromboplastin generation (BiggsTGT) correction test can be used to identify the type of hemophilia. If prothrombin consumption and thromboplastin generation tests are not normal, corrective tests can be done. After being absorbed by barium sulfate, normal plasma still contains FⅧ and FⅪ; normal serum contains FⅨ and FⅪ. Therefore, if the partial thromboplastin time of the patient's plasma is only corrected by normal barium sulfate-adsorbed plasma, it is FⅧ deficiency; when it is only corrected by normal serum, it is FⅨ deficiency; if both can be corrected, it is FⅪ deficiency. The three can be distinguished.
8. Genetic diagnosis
Significant genetic heterogeneity exists at the molecular level in hemophilia. Genetic diagnosis of hemophilia A is an effective, accurate and rapid method. At present, PCR is mainly used for gene analysis.
9. Diagnosis and genetic counseling for hemophilia A carriers and prenatal period
Most hemophilia A carriers have plasma factor Ⅷ:C levels that are only 50% of the average for normal women. In recent years, most people believe that the detection of Ⅷ:C and ⅧR:Ag is of great significance, and the carrier ratio of 70% to 98% is less than normal. During the 8th to 12th week of pregnancy, fetoscope amniocentesis or chorionic villus sampling, and radioimmunoassay to measure ⅧR:Ag and Ⅷ:C can be used to diagnose whether the fetus suffers from hemophilia before birth, so as to consider termination of pregnancy. In recent years, the development of genetic diagnosis technology has been applied to the transmission and prenatal examination.
How to control it?
The prevention of hemophilia includes avoiding injuries and pre-marital examinations. The main treatment method is drug therapy, and some complications can be treated by surgery.
1. Prevention: Hemophilia is currently incurable. It is mainly caused by traumatic bleeding or coagulation dysfunction, so as to prevent patients from threatening their lives due to excessive blood loss. Hemophilia is a hereditary disease. Premarital genetic testing can promote eugenics and fertility, and prevent the next generation from suffering from hemophilia.
2. Treatment: The purpose of improving coagulation function is mainly to supplement the missing coagulation factors. The disease is a long-term continuous treatment. Purified blood coagulation factor preparations or fresh frozen plasma, cryoprecipitate and other therapeutic drugs can be selected according to the patient's symptoms, economic conditions and medical resources. If the patient has bleeding symptoms in some tissues and organs, surgery can be performed under the condition of ensuring sufficient coagulation factors. People with hemophilia are advised to take protective measures in their daily life to avoid injury and bleeding.