Overview
A disease in which a part of a protein called blood clotting factor, which is needed to solidify the blood in the bleeding area, is naturally lacking.In normal cases, blood vessels and platelets stop bleeding first, and blood clotting factors block the bleeding area by forming a protein network, but hemophilia makes it difficult to stop bleeding because of the lack of coagulation factors.There are 13 kinds of blood clotting factors, among which, the one lacking factor 8 is called hemophilia A, and the one lacking factor 9 is called hemophilia B.It is said that about 50 to 60 people develop the disease annually in Japan.cause
An abnormality of a factor 8 gene or a factor 9 gene present in an X chromosome of a gene prevents the production of a normal factor 8 and a factor 9 from being sufficiently produced.In women, even if an X chromosome with genetic variation is inherited from one parent, normal factor 8 or 9 can be produced by inheriting a normal X chromosome from the other, so hemophilia is rarely developed in women.A woman with an X chromosome with a genetic mutation may become a carrier of hemophilia, and her child may develop hemophilia.Men have only one X chromosome, so if they inherit the X chromosome with a genetic mutation from the woman responsible for it, they will always develop hemophilia.Therefore, it is also characterized by the fact that most of the patients are men.In rare cases, even if there is no one in the family who has hemophilia, it can develop through genetic mutation.symptom
It is difficult to stop bleeding in various parts of the body, but internal bleeding, which occurs in the body rather than surface bleeding, is a problem, especially due to internal bleeding in joints and muscles.Intra-articular bleeding is likely to occur in elbows, knees and ankles, and when bleeding occurs, swelling, pain, and fever can occur.Intra-muscular bleeding occurs when the body is hit or the leg is sprained, and blood clots from the bleeding compress the muscles, causing pain and swelling.Also, bleeding from the nose, mouth and gums, bluish skin, and hematuria are likely to occur.In particular, intracranial and gastrointestinal bleeding may cause severe aftereffects or shock symptoms, and emergency treatment may be needed.Repeated bleeding in the same area may cause symptoms such as arthropathy.examination and diagnosis
In order to check whether or not blood stops easily, three measurements are performed: platelet count, prothrombin time (PT), and activated partial thromboplastin time (APTT).PT and APTT put substances in the blood collected to give instructions to harden and measure the time it takes for the blood to harden.If only APTT is long, a test is conducted to determine the ′factor activity′ of the blood clotting factor.A normal factor activity is set to 100% and a hemophilia is diagnosed when the blood clotting factor 8 activity is less than 40% and a hemophilia B when the ninth factor activity is less than 40%.The severity of hemophilia is determined by the function of the coagulation factor, and less than 5-40% is considered mild, 1-5% is considered moderate, and less than 1% is considered severe.treatment
It is mainly a ′replenishment therapy′ in which drugs containing insufficient blood clotting factors are injected.Preliminary replacement therapy is provided to inject blood clotting factor preparations in advance if you plan to have a sports day or travel, or if you have a bleeding operation or procedure such as surgery or tooth extraction.In addition, regular replacement therapy may be performed to prevent bleeding by injecting a blood clotting factor regularly and to reduce the limitations of daily life.The dosage and method of the drug are determined by the patient′s level of blood clotting factor and the frequency of bleeding.precautions after prevention/treatment
If bleeding occurs, the bleeding area should be compressed and cooled.In the case of minor cuts or abrasions, the bleeding area should be washed with tap water and pressed with gauze to stop bleeding.If the blood doesn′t stop, take a blood clotting factor and consult your doctor. Contact your doctor as soon as possible depending on where you bleed.If you hit your head or bleed around your neck, you should go to the hospital immediately.Consult with your doctor for preliminary or regular replacement therapy and observe the prescribed dosage and interval.
A disease in which a part of a protein called blood clotting factor, which is needed to solidify the blood in the bleeding area, is naturally lacking.In normal cases, blood vessels and platelets stop bleeding first, and blood clotting factors block the bleeding area by forming a protein network, but hemophilia makes it difficult to stop bleeding because of the lack of coagulation factors.There are 13 kinds of blood clotting factors, among which, the one lacking factor 8 is called hemophilia A, and the one lacking factor 9 is called hemophilia B.It is said that about 50 to 60 people develop the disease annually in Japan.cause
An abnormality of a factor 8 gene or a factor 9 gene present in an X chromosome of a gene prevents the production of a normal factor 8 and a factor 9 from being sufficiently produced.In women, even if an X chromosome with genetic variation is inherited from one parent, normal factor 8 or 9 can be produced by inheriting a normal X chromosome from the other, so hemophilia is rarely developed in women.A woman with an X chromosome with a genetic mutation may become a carrier of hemophilia, and her child may develop hemophilia.Men have only one X chromosome, so if they inherit the X chromosome with a genetic mutation from the woman responsible for it, they will always develop hemophilia.Therefore, it is also characterized by the fact that most of the patients are men.In rare cases, even if there is no one in the family who has hemophilia, it can develop through genetic mutation.symptom
It is difficult to stop bleeding in various parts of the body, but internal bleeding, which occurs in the body rather than surface bleeding, is a problem, especially due to internal bleeding in joints and muscles.Intra-articular bleeding is likely to occur in elbows, knees and ankles, and when bleeding occurs, swelling, pain, and fever can occur.Intra-muscular bleeding occurs when the body is hit or the leg is sprained, and blood clots from the bleeding compress the muscles, causing pain and swelling.Also, bleeding from the nose, mouth and gums, bluish skin, and hematuria are likely to occur.In particular, intracranial and gastrointestinal bleeding may cause severe aftereffects or shock symptoms, and emergency treatment may be needed.Repeated bleeding in the same area may cause symptoms such as arthropathy.examination and diagnosis
In order to check whether or not blood stops easily, three measurements are performed: platelet count, prothrombin time (PT), and activated partial thromboplastin time (APTT).PT and APTT put substances in the blood collected to give instructions to harden and measure the time it takes for the blood to harden.If only APTT is long, a test is conducted to determine the ′factor activity′ of the blood clotting factor.A normal factor activity is set to 100% and a hemophilia is diagnosed when the blood clotting factor 8 activity is less than 40% and a hemophilia B when the ninth factor activity is less than 40%.The severity of hemophilia is determined by the function of the coagulation factor, and less than 5-40% is considered mild, 1-5% is considered moderate, and less than 1% is considered severe.treatment
It is mainly a ′replenishment therapy′ in which drugs containing insufficient blood clotting factors are injected.Preliminary replacement therapy is provided to inject blood clotting factor preparations in advance if you plan to have a sports day or travel, or if you have a bleeding operation or procedure such as surgery or tooth extraction.In addition, regular replacement therapy may be performed to prevent bleeding by injecting a blood clotting factor regularly and to reduce the limitations of daily life.The dosage and method of the drug are determined by the patient′s level of blood clotting factor and the frequency of bleeding.precautions after prevention/treatment
If bleeding occurs, the bleeding area should be compressed and cooled.In the case of minor cuts or abrasions, the bleeding area should be washed with tap water and pressed with gauze to stop bleeding.If the blood doesn′t stop, take a blood clotting factor and consult your doctor. Contact your doctor as soon as possible depending on where you bleed.If you hit your head or bleed around your neck, you should go to the hospital immediately.Consult with your doctor for preliminary or regular replacement therapy and observe the prescribed dosage and interval.
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