History of Hemophilia
The first reference is made to a Hebrew text of the 2nd c. AD, according to which the boys who had two previous siblings, who died during the above procedure, are excluded from the circumcision. Then, there was an extensive report of this disease in the royal families of Europe, in which the boys died after minor injuries.
What’s Hemophilia?
Hemophilia is a genetic, monogenic disorder, inherited according to a sex-linked pattern, which is related to mutations at F8 and F9 genes. These genes encode the clotting factors VIII and ΙΧ, respectively. More than 1000 mutations at these genes are known to cause hemophilia. According to the mutated factor, hemophilia can be divided into two main types:
Hemophilia A, if the mutated gene is F8:
According to the concentration of factor VIII, hemophilia A can be subdivided into mild, moderate and severe hemophilia A.
Hemophilia B, if the mutated gene is F9:
According to the concentration of factor IX, hemophilia B can be subdivided into mild, moderate and severe hemophilia B.
How is hemophilia inherited?
The genes F8 and F9 are located at the X chromosome and as a result hemophilia is inherited in a sex-linked pattern.
Symptoms of Hemophilia
-Symptoms of hemophilia include:
• Bleeding
• Intramuscular hematoma
• Extensive bruising
• Damage of the joints, like chronic arthropathy and synovitis, due to the bleeding in the joints
• Injuries at the joints such as knees, elbows, ankles, shoulders, wrists and hips
Also, there is a high possibility of:
• Induction of cerebral bleeding, and as a result impairment of functions, such as fine motor, visual-spatial skills and cognitive function.
• Induction of gastric bleeding, after the cοnsumption of non-steroidal anti-inflammatory drugs (NSAIDS).
How can we treat a hemorrhagic stroke in a patient with hemophilia?
First Aid
Firstly, we have to protect the wound from infection by wearing exam gloves or washing our hands thoroughly. Then, we need to stop the bleeding, pressing with a sterile gauze and putting the battered body part in a high position. Finally, we need to add ice over the wound.
If the wound is plaster or has occurred on the head or near the viscera, it is necessary to communicate with the medical center who sees the hemophiliac patient. If we cannot contact them, we call an ambulance.
Medication in Hemophilia
There is no cure for the disease, but there are treatments that can help manage it and prevent bleeding episodes.
The therapeutic approach consists of fiber seals, desmopressin, clot preserving medications, infusion of missing factor and Emicizumab.
Epidemiology of Hemophilia
The incidence of hemophilia A is estimated at 1: 10,000, this means that 1 person suffers per 10,000 births.
The disorder mainly affects men, as it is genetically transmitted from mother to son, and it is very rare for a girl to be born with hemophilia.