Definition of Hemophilia
Hemophilia is one of several disorders of the blood clotting
process that greatly prolong coagulation (clotting) time.
Description of Hemophilia
Coagulation, or clotting, is the body's mechanism to halt
bleeding. It involves at least 14 sequential steps, each requiring
a specific plasma protein or "factor" normally found in the blood.
In hemophilia, one of the factors required for the clotting
sequence is deficient or absent. The condition known as hemophilia
has been recognized for thousands of years.
The two most common forms of hemophilia are hemophilia A and
hemophilia B. Hemophilia A and B have similar symptoms and were
not recognized as separate disorders until 1952.
Hemophilia A (classic hemophilia), is caused by the deficiency of
Factor VIII.
Hemophilia B (also called Christmas disease, for the name of the
family the disorder was first observed in), is caused by the
deficiency of factor IX.
Hemophilia A is four times as common, with an estimated incidence
of 1 in 10,000 males, while hemophilia B is estimated to occur in
one in 40,000 males. Approximately 1 woman in 5,000 is a carrier
for hemophilia A, and 1 in 20,000 is a carrier of hemophilia B.
Hemophilia is typically divided into three classes: severe,
moderate and mild, based on the level of clotting factor in the
blood. In severe hemophilia, there is less than 1 percent of
normal clotting factor. The degree of severity tends to be
consistent from generation to generation.
Contrary to popular belief, minor cuts and wounds do not usually
present a threat to hemophiliacs. Rather, the greatest danger
comes from spontaneous bleeding that may occur in joints and
muscles. This is most prone to occur during years of rapid growth,
typically between the ages of 5 and 15 years.
Repeated spontaneous bleeding in joints may cause arthritis, and
adjacent muscles become weakened. Pressure on nerves caused by the
accumulation of blood may result in pain, numbness, and temporary
inability to move the affected area. In the past, this led to
permanent crippling disability by adulthood.
The development of purified clotting factors in the 1970s,
isolated from donated blood, significantly improved the long-term
outlook for hemophiliacs. Severe hemophiliacs require transfusions
of clotting factors as frequently as once a week.
Symptoms of Hemophilia
Patients with hemophilia may present with bleeding anywhere, but
most commonly into joints (knees, ankles, elbows), into muscles,
and from the digestive tract. Those with severe hemophilia may
bleed spontaneously.
Diagnosis of Hemophilia
Blood tests to determine the effectiveness of clotting and the
levels of clotting factors will be abnormal.
Treatment of Hemophilia
Early prophylactic use of clotting factors with severe hemophilia
is gaining acceptance as a way to prevent pain and morbidity
associated with bleeding disorders. Treatment of severe hemophilia
A or B consists of administration of plasma-derived or recombinant
clotting factor concentrates.
The plasma-derived concentrates have saved lives and prevented
disability. However, their use in the past has been complicated by
infection with viral pathogens particularly the human
immunodeficiency virus and the hepatitis viruses. Monoclonal
antibody purification techniques, heat inactivation, and virucidal
detergent treatments have rendered plasma-derived concentrates
relatively safe. Recombinant DNA technology has provided a series
of synthetic products.
A genetically engineered clotting factor to treat people with
hemophilia has been licensed by the FDA. The product,
antihemophilic factor (recombinant) is used for preventing and
controlling excessive bleeding and for preparing people with
hemophilia A for surgery. The brand name is Kogenate. Kogenate is
the second recombinant DNA-derived clotting factor for people with
hemophilia A. The first product, Recombinate, was licensed in late
1992.
Previously, patients were given factor VIII concentrates pooled
from thousands of plasma donations. Kogenate is made using baby
hamster kidney cells that have been altered by recombinant DNA
technology to produce factor VIII. The resulting factor is highly
purified, eliminating any possibility of transmission of virus
from plasma.
Hemophilia B is managed with factor IX concentrates. Factor VIII
concentrates are ineffectual in this type of hemophilia. The use
of Factor IX concentrate are to maintain a patient through a major
surgical procedure. Factor levels should be measured to ensure
that expected levels are achieved and that an inhibitor is nor
present. Factor IX concentrates contain a number of other
proteins, including activated coagulating factors that appear to
contribute to a risk of thrombosis with recurrent usage of Factor
IX concentrates. Because of the risk of thrombosis, more care is
needed in deciding to use these concentrates.
Growing Stronger, Growing
Better
Global Health
Healthcare Provider
Hemophilia - treatment of Hemophilia,
Hemophilia types, Disease medicines, Hemophilia symptoms, Hemophilia and
Disease symptoms, Hemophilia symptoms Disease and diagnosis, Symptoms and
Solutions, Signs and Symptoms, type of Hemophilia, cause common, common
Hemophilia, Hemophilia List, causes list, Infectious Hemophilia, Causes,
Diseases , Types, Prevention, Treatment and Facts, Hemophilia information,
Hemophilia: Definition, Hemophilia names, medical Hemophilia, medical
Hemophilia and disorders, cell Hemophilia, Hemophilia Worldwide, Hemophilia
Research, Hemophilia Control, Hemophilia Center, Digestive Hemophilia Week,
Information about Hemophilia, causes of different Hemophilia, Hemophilia
Articles, Hemophilia and conditions, Health and Hemophilia, Hemophilia
Patients, Hemophilia and Sciences, causes of alzheimer's Hemophilia,
Hemophilia causes, alternative medicine heart Hemophilia, body ailments,
Hemophilia medicines, medical antiques, type of blood Hemophilia