Hemophilia part 1

Patient asks to Mbah Dukun Bagong: Mbah, i had a friend, he was died 2 months ago, he got bleeding after circumcised, is circumcised dangerous?
Mbah Dukun Bagong answers: "mmmm i see, circumcised is not dangerous, its "sunnah" God commanded Abraham to circumcise his son, Ishmael. However, there is condition, which person can't be able to circumcised, its called HEMOPHILLIA

Hemophilia is a bleeding disease due to deficiency of blood-derived clotting factors (hereditary) by sex - linked recessive on chromosome X (XH). Although hemophilia is a hereditary disease but approximately 20-30% of patients had no family history of blood clotting disorder, so that spontaneous mutation is thought to occur due to endogenous or exogenous environment.

Clotting mechanism is divided into three basic stages:
1) The formation of plasma thromboplastin intrinsic trombopatogenesis also called, began with the work of platelets, especially TF3 and other clotting factors on foreign surfaces or contact with collagen. Clotting factor is factor IV, V, VIII, IX, X, XI, XII and factor III and VII.
2) Changes in prothrombin into thrombin is catalyzed by thromboplastin, F IV, V, VII, and X
3) Changes in fibrinogen into fibrin by thrombin catalyst, TF 1 and TF 2.5


Hemostasis is good progress within a certain time limit so that not only shaped thromboplastin, thrombin or fibrin are important, but also the formation of each Hemophilia is an inherited blood clotting disorder is first recognized and has been well known since 1911. At that time the disease known as hemophilia due to congenital blood clotting disorders in males are derived by a healthy woman. The term hemophilia there is only limited understanding of massive bleeding in boys with a prolonged period of freezing. It turned out that the definition or restriction is not appropriate that it experiences a change, because not all hemophiliacs who accompanied the memanjang.Hal freezing is caused because the examination of blood clotting time is not sensitive.

Until recently recognized 2 types of hemophilia are reduced sex - linked recessive namely: 

1. Hemophilia A (classical hemophilia), due to deficiency or dysfunction of coagulation factor VIII (F VIII c)
2. Hemophilia B (Christmas disease) due to deficiency or dysfunction of coagulation factor IX (christmas factor)

Gene factor VIII and factor IX is located on the X chromosome and is recessive, then the disease is carried by women (career, XXh) and manifests clinically in male - male (patient XhY); may manifest clinically in women when both X chromosomes in women there are abnormalities (XhXh).

This disease was first recognized at the Judah family that is around the second century AD in the Talmud. In the early 19th century, modern history new haemophilia, genealogy begins with the British royal family about this disease by Otto (1803). Since it is known as hemophilia blood clotting disorder which reduced X-linked recessive, about half a century before Mendel's laws were introduced. Next, Leggpada 1872 successfully distinguish the disease from the disease hemophilia and other blood-clotting disorders based on clinical symptoms, ie, a disorder which is derived with bleeding tendency muscles and joints that lasts a lifetime. At the beginning of the 20th century, hemophilia was diagnosed based on family history and blood clotting disorders. In the year 1940 - 1950 new experts successfully identify F VIII - FIX deficiency in hemophilia A and B. In 1970 the F VIII were isolated from the carrier protein in plasma, namely von Willebrand factor (vW F), so that now can be distinguished between hemophilia A and von Willebrand disease.
Entering the 21st century diagnostic approaches with advanced technology and providing the necessary coagulation factors capable of carrying patients with hemophilia do other healthy activities such as other people without problems.

DEFINITIONS
Haemophilia derived from Ancient Greek, which consists of two words namely Haima, which means blood and philia, which means love or affection. Hemophilia is a bleeding disease due to deficiency of blood-derived clotting factors (hereditary) by sex - linked recessive on chromosome X (XH). Blood on a hemophiliac can not be frozen by themselves normally. The process of blood clotting in a patient with hemophilia is not as fast and as much as any other normal person. He will require more time for blood clotting process. Patients most susceptible to interference, bleeding under the skin, such as if a little bruising clash, or a bruise incurred by itself if the patient has been doing heavy activity; swelling in the joints, like knee, ankle or elbow. The suffering of the people with hemophilia can cause him any harm if bleeding occurs in the vital organs such as bleeding in the brain.

Patient asks to Mbah Dukun Bagong: Mbah, tell me more about Hemophillia!

Mbah Dukun Bagong answers:

ETIOLOGY
Both types of hemophilia, hemophilia A lack of factor VIII and factor IX deficiency hemophilia B, caused by permanent changes are made to the structure of genes. Genetic mutations play a major role in making proteins needed for blood clotting and that one mutation can cause damage in the process of blood clotting.

CLINICAL MANIFESTATIONS
Bleeding is a typical clinical signs and symptoms are often seen in cases of hemophilia. Bleeding can occur spontaneously or from trauma mild to moderate and can arise when babies begin to learn to crawl. Clinical manifestations depend on the severity of haemophilia (clotting factor activity). Signs of bleeding that is often encountered in the form hemartrosis, hematoma subcutaneous / intramuscular, oral mucosal bleeding, intracranial bleeding, epistaxis, and hematuria. Often, too, found that continuous postoperative bleeding small (circumcision, dental extraction).
Hematrosis most commonly found (85%) with consecutive locations as follows, knee joints, elbows, ankles, shoulder, wrist, and so forth. Hinge joints more often experience joint hemartrosis than ball and sockets, because of his inability to resist rotary motion and angular at the time of voluntary or involuntary movement, while the ball and socket joints better able to withstand the movement because of its function.
Intramuscular hematoma occurred in the muscles - the flexor muscles, particularly in the calf muscle, muscle - the region of the iliopsoas muscle (often in the pelvis) and forearm. Hematoma is often causes significant blood loss, compartment syndrome, nerve compression and muscle contractures. Intracranial bleeding is a major cause of death, can occur spontaneously or after trauma. Retroperitoneal bleeding and airway retrofaringeal dangerous to life threatening. Massive hematuria often found and can cause renal colic but not life threatening. Postoperative bleeding is often continued for several hours to several days, which is associated with poor wound healing.