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Hemophilia


Hemophiliacs are people with bleeding disorder caused by abnormality or deficiency of clotting factors which is the body’s blood components that act on injured sites to halt bleeding. These people therefore have prolonged bleeding and may have serious complications after an injury or trauma.

Types
The two most common forms of hemophilia are hemophilia A and B caused by deficiency of clotting factors VIII and IX respectively. According to National Hemophilia Foundation, approximately one in 5,000 males born in the United States has hemophilia and although the disease is largely inherited, there is no family history of the disorder and the condition is the result of a spontaneous gene mutation in about 30% of cases. Hemophilia A or classic hemophilia as usually named accounts for most of the cases including the inherited hemophilia that ran down the European royal families in the 19th and 20th centuries.

Each individual has two sex chromosomes inherited from both parents. A male will have XY chromosomes whereas a female will have XX chromosomes. Hemophilia is an X-linked genetic disorder hence one altered copy of the gene is enough to have the manifestation of the disease hence most hemophiliacs are males. Since a female has two X chromosomes, it is very rare for a woman to manifest the disease for at least one of her two X chromosomes will have the appropriate genes thus would only be a carrier.

Hemophilia may be mild, moderate or severe based on the amount of clotting factors in the blood and the severity of the condition depends on these levels. People with mild hemophilia may go undiagnosed not until prolonged bleeding follows an injury or surgery. For instance, bleeding can usually last for days after a tooth pulling. Moderate and severe hemophilia can cause bleeding even with the absence of injury or the so-called spontaneous bleeding in certain body parts such as joints. To the worst extent, bleeding may occur in serious sites involving vital organs like brain following a serious trauma.

Managing Hemophilia
Management of hemophilia during injuries or bleeding episodes range from simple regular first aid and/or use of drug, desmopressin acetate (DDAVP) to treat small bleeds for mild forms to administration of plasma-derived or recombinant clotting factor replacement products for more severe conditions.

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In an article from the Canadian Hemophilia Society written by Lyman Keeping, a hemophiliac with factor VIII deficiency, he said, “I run four to five times a week and have completed five 26.2 mile marathons with no adverse effects. Over the years, I have become very health conscious and make every attempt to control my weight and stay in shape. The only bleep has been a battle with hepatitis C. However, that has also been eradicated from my system – another journey, to be shared at some other time. I am now 55 years old and living life to the fullest.”

Hemophilia is a life-long disease but with proper management, caution and counselling as well as the encouragement and support from people around, any hemophiliac can live a relatively normal life.


Hemophilia

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