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Hemophilia disease - A story of a “Christmas” disease

story of a christmas disease

You might have heard about "hemophilia disease" or not, because it’s a rare disease!

• Hemophilias (heamo=blood,philia=friend) Is a group of hereditary hemorrhagic disorders that affect especially the blood clotting system. During a hemorrhage, the body’s purpose is to form a clot in order to stop the bleeding.(clot is a clump of blood).In this procedure, responsible are the platelets and the coagulation factors. The coagulation factors are proteins produced by liver and blood vessels,and are circulating in the blood.In case a factor is decreased or even absent, the person suffers from hemophilia!

Hemophilia hereditary inheritance

• Types A lot of people mistakenly think that hemophilia has only one type. In truth, there are three types, hemophilia A, B, C. There are also other diseases called bleeding disorders (ex. von Willebrand disease, etc.).

-> Hemophilia type A, is the most common type of the disease. It is also called “classic hemophilia” and it is caused by deficiency of factor VIII (8th). It is found in 1/5.000-10.000 males.

-> Hemophilia type B, it is also inherited but 4 times rare than hemophilia A! It is also called “Christmas disease” for Stephen Christmas who was the first person diagnosed with the disease! This type is caused by deficiency of the factor IX (9th).

-> Hemophilia type C, is the most difficult type of hemophilias because the bleeding tendency is totally unpredictable!

• Signs & Symptoms

Besides the fact hemophilias are mostly hereditary, patients can be diagnosed later on.

Hemophilia sign and symptoms

Main symptoms of the disease are, -> Bleeding in the skin(hematomas, bruises) -> Bleeding in the joints (heamarthrosis) -> Bleeding in the urine(hematuria) -> Bleeding in the oral cavity (during tooth extraction etc.) -> Easy bruising after a vaccination, blood exams, etc.

-> Frequent and heavier nasal bleeding.

• Diagnosis The diagnosis is made by physical examination and it is confirmed by screening tests. Such as, -> CBC (Complete blood count test) -> APTT (=activated plasma thromboplastin time), a test that measures the clotting ability of the factors 8, 9, 11, 12. -> PT (=prothrombin test), a test that measures other factors from APTT test and it is normal in persons with hemophilia.

-> Other clotting factor tests, fibrinogen test, etc.

• Complications

Hemophilia is a very serious disease and even with the proper treatment and the prophylaxis of the patient, it can lead into,

Hemophilia signs and symptoms

-> Excessive internal bleeding that needs immediate medical care! -> Bleeding in the brain, after a minor head trauma. -> A very important complication for a patient is to develop “inhibitors” against the therapy (factor replacement, see treatment). It is actually a reaction of the immune system that doesn’t recognize the replaced factors and attacks them.

-> Severe joint damage may occur due to frequent bleeding and accumulation of blood inside the joints that further compresses the tissues, nerves, etc.

• Treatment There is a lifetime therapy for the disease. This represents a replacement of the missing factor administrated intra-venous. Rather than replacement therapy there are also other techniques such as, desmopressin that is used only in mild forms of hemophilia that triggers the body to produce more clotting factors. Another therapy is to promote/ enhance prophylactic methods like first aid (proper bandaging of the wounds etc.), Very important is the use of antifibrinolytics and the vaccination for hepatitis (A,B).

World hemophilia day is celebrated at 17th of April!

world hemophilia day april 17

In India on this day various events are organised by groups of people in several states. Indian Hemophilia Foundation situated in New Delhi in association with the Ministry of Health and Family Welfare also celebrates this day by providing medical facilities to the needy and increases the awareness about this disease.

*It is advisable to consult your personal physician to assist you appropriately!

Be healthy and happy!

About Author:

Dr. Chrysoula Valaroutsou is a Greek medical doctor graduated from UOC (english division Constanta,Romania). She is passionate about medicine and always eager to learn more. She has lots of love and loyalty towards serving mankind. References: , , , , Dr.P. Marazzi/ science photo album, , , ,


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