Activation - the portion
of the blood clotting process in which platelets change their
shape so they can signal and stick to each other.
Adhesion - the process of
platelets sticking to the wall of a torn blood vessel.
Aggregation - the portion
of the blood clotting process in which activated platelets
stick to each other to form a platelet plug.
Agonist - a chemical substance
that binds to a specific receptor on a platelet and triggers
AHF - Antihemophilic factor.
Alpha Storage Pool Deficiency
- a type of Storage Pool Disease in which the alpha granules
inside a platelet are missing. Also called Gray Platelet Syndrome.
Alpha/Delta Storage Pool Deficiency
- a type of Storage Pool Disease in which the platelets have
few or no alpha and delta (also called dense) granules.
Amicar® - epsilon aminocaproic
acid; a drug that prevents the breakdown of newly formed blood
clots in the mouth or nose.
Anemia - when there is not
enough of the oxygen-carrying part of the blood or not enough
red blood cells.
Angiodysplasia - a condition
in which the blood vessels in the stomach or intestines become
large and prone to bleed.
Antibody - a protein made
by the body’s immune system when it encounters a foreign
substance. The foreign substance could be a virus or germ
or even factor concentrate.
Antigen - a name for a foreign
substance that causes the body’s immune system to make
Antihemophilic factor -
Artery - a blood vessel
that carries oxygen-rich blood away from the heart to the
Autosome - a chromosome
that is not a sex chromosome.
- a very rare disorder in which a person’s platelets
do not have enough of the receptor (glycoprotein Tb/TX) needed
to bind von Willebrand factor.
Birth Control Pills - (also
known as oral contraceptives) contain the hormones estrogen
and progesterone. They may be given to women with bleeding
disorders to control heavy menstrual bleeding. The hormones
may increase the level of von Willebrand factor and factor
VIII in the blood.
Bleeding time test - a test
in which a cut is made on the forearm and the length of time
for bleeding to stop is measured.
Blood clot - coagulated
blood. The jelly-like mass that results when blood platelets
and fibrin mesh to seal a leaking blood vessel.
Bruise - an injury to the
tissue underneath the skin without breaking the skin. Bleeding
under the skin can cause it to appear a dark color.
Capillaries - very small
blood vessels which connect the smallest arteries with the
smallest veins. The capillaries allow oxygen and nutrients
to pass from the blood to the body’s cells. They also
carry waste away from the cells.
Carrier - in genetics, a
person who has a certain gene but doesn’t have the condition
caused by that gene. The gene can be passed on to offspring.
CDC - the Centers for Disease
Control and Prevention. A government agency which tracks and
studies diseases and helps plan ways to prevent them.
Chromosome - a tiny rod-shaped
structure in the nucleus of each body cell. The body’s
genes are on the chromosomes.
Chronic - long lasting.
Going on without stopping.
Clot - see Blood clot.
Clotting - the sealing of
a blood vessel with coagulated blood.
Coagulation - clotting.
The process in which liquid blood is changed into a jelly-like
solid to seal an injured blood vessel.
COBRA - Consolidated Omnibus
Budget Reconciliation Act. A national law that allows some
employees who have lost group health insurance coverage to
buy insurance for themselves or their families for a limited
period of time.
Collagen - the major protein
that forms bone, cartilage, tendons, and other connective
Comprehensive care - a way
of giving health care in which a team of professionals works
with the patient to improve his or her physical, emotional,
and mental well-being. The care is usually given in one place,
a hemophilia treatment center (HTC), so the experts can work
Congenital - the condition
of being present from birth. A congenital disorder is one
that a person has had all of his or her life.
Cryoprecipitate - a layer
of blood plasma that is rich in clotting proteins. Cryoprecipitate
is made through a process of freezing and thawing plasma.
Cyklokapron® - the brand
name for tranexamic acid. It is a medicine that helps keep
blood clots from being broken down too quickly by the body.
DDAVP® - desmopressin
acetate. A medicine used to treat some factor deficiencies
and von Willebrand disease.
Delta Storage Pool Deficiency
- a type of Storage Pool Disease in which the platelets have
few or no dense (or delta) granules.
Dense granules - storage spaces inside platelets
that hold chemicals that are necessary for platelets to function
Desmopressin acetate - see
DNA - deoxyribonucleic acid.
The substance in chromosomes that carries the genetic information.
Dominant - in genetics,
dominant and recessive refer to the relationship of a pair
of genes. In a person, there are two genes, one on each of
a matching pair of chromosomes, for traits such as curly hair,
eye color, or hemophilia. The genes, which come from the mother
and the father, may be the same or different. If they are
different, the trait which shows up and the gene directing
it are said to be dominant. The gene for the trait or characteristic
that does not show up is recessive. A gene for a recessive
trait never shows its effect unless it joins with another
recessive gene or a dominant gene is not present.
Donor - a person from whom
blood is drawn to be used by others.
Ecchymosis - a black-and-blue
discolored area of the skin caused by bleeding into the subcutaneous
tissue. A bruise.
Electron microscopy - the
use of an electron microscope to see objects up to two million
times larger than their actual size.
Endometrial ablation - a
medical procedure that removes or destroys the lining of the
uterus, resulting in decreased bleeding from periods.
Endothelial cells - the
cells that line the inside walls of blood vessels. Together
they are called the endothelium.
Enzyme - a type of protein
that speeds up specific chemical reactions. Epistaxis - the
medical name for a nosebleed.
Estrogen - the primary sex
hormone in women. Men have this hormone in their bodies also,
though in much lower amounts.
Factor - a protein in the
blood that is needed to make the blood clot. Factor Concentrate
- factor VIII or IX that has been made into a powder.
Factor I - (factor one)
Another name for fibrinogen, a protein in the blood that is
converted to fibrin as part of the clotting process.
Factor IX - (factor nine)
The clotting factor protein that is decreased in people with
Factor VIII - (factor eight)
The clotting factor protein that is decreased in people with
Factor replacement therapy
- the method in which a person with hemophilia is given, through
a needle in a vein, the blood clotting factor he lacks.
Fibrin - strands of protein
which weave around and through a platelet plug to form a blood
Fibrinogen - a protein in
the blood that is converted to fibrin as part of the clotting
process. Also known as Factor I.
Fibrinolysis - the breakdown
of fibrin in a blood clot to let the blood flow again.
Fibrous - made up of slender,
Fifth disease - a common
childhood illness caused by a virus (human parvovirus B 19).
It is spread like a cold and is usually very mild. It usually
starts as a red rash on the cheeks, giving the disease its
other name, “slap face disease.” The rash spreads
to other parts of the body and lasts from one to three weeks.
There is no vaccine or treatment for Fifth Disease. It is
believed that having the disease makes you immune to ever
having it again. Fifth Disease got its name because at one
time it was the fifth disease on a list of the common causes
of rash and fever in children.
Gastrointestinal - referring
to the stomach and the intestines.
Gene - the basic unit of
heredity. Genes are the blueprints for the body. Each gene
has a certain position on a chromosome.
Gene modifiers - genes that
change the severity or progression of a disorder in someone
with a disorder caused by a single gene. For example, someone
may have the gene for a bleeding disorder but has fewer symptoms
than expected because he or she has other genes that are modifying
the effect of the bleeding disorder gene.
Gene mutation - a change
that alters the instructions carried by a gene, producing
a baby that is unlike either parent in a certain way. This
change in the gene is permanent.
Genetic defect - a mutation
in a gene that causes it to no longer work correctly.
Genetics - the type of science
that studies heredity.
Giant Platelet Syndrome
- a less common name for Bernard-Soulier Syndrome.
- a very rare bleeding disorder in which platelets are missing
glycoprotein IIb/IIIa, so fibrinogen is not able to stick
the platelets together to form a platelet plug.
Glycoprotein Ib/IX - a receptor
on the surface of a platelet where von Willebrand factor normally
attaches. The platelets of people with Bernard Soulier Syndrome
do not have enough glycoprotein Ib/IX. Without enough glycoprotein
lb/TX, von Willebrand factor is not able to glue the platelet
to the wall of an injured blood vessel.
Glycoprotein IIb/IIIa -
a receptor on the surface of a platelet where fibrinogen can
attach. The fibrinogen binds platelets together (aggregation).
People with Glanzmann’s thrombasthenia have decrease
amounts of, or abnormal. glycoprotein IIb/IIIa.
Granules - storage spaces
inside platelets that normally hold different chemicals and
Gray Platelet Syndrome -
see Alpha Storage Pool Deficiency.
Hemarthrosis - blood in
Hematologist - a doctor
who specializes in disorders of the blood.
Hematoma - a swelling under
the skin caused by a mass of clotted or partly clotted blood
that has leaked out of a blood vessel.
Hematuria - blood in the
Hemophilia - a life-long,
hereditary blood disorder in which bleeding lasts longer than
normal. it is caused by a defect in a protein needed for blood
Hemophilia Treatment Center
- a system of clinics established by the federal government
to provide specialized, comprehensive care to people with
inherited bleeding disorders.
Hemorrhage - bleeding.
Hemorrhoids - inflammation
and swelling of veins in the rectum and anus. Hemorrhoids
can be inside or outside the anus and are prone to bleeding.
Hemostasis - the stopping
of blood flow.
Hereditary - passed in the
genes from parent to offspring. The basic unit of heredity
is the gene.
HIV - Human Immunodeficiency
Virus, the virus that causes AIDS. Hives - red, itchy bumps
on the skin caused by an allergic reaction.
HLA-matching - a way of
determining the compatibility of donated blood. Blood that
has been HLA-matched will not cause a reaction by the immune
system of the person receiving the blood.
HTC - Hemophilia Treatment
Hysterectomy - surgery to
remove a woman’s uterus.
Immune system - the body’s
defense network which fights harmful germs or substances.
Infusion - putting fluid
other than blood into a vein.
Inhibitor - an antibody
in the blood that reacts to infused factor and hinders clotting.
Injection - the use of a
syringe and needle to put a fluid (most often a medicine)
into tissue or a vein. A shot.
Intramuscular injection - an injection given
deep into a muscle.
Intravenous treatment -
putting fluid into a vein by means of a needle passing through
the skin. The needle is attached to tubing or a syringe containing
Invasive procedures - medical
practices that open the skin or go beneath the skin.
IV line - see Intravenous
Joint - the place where
two or more bones come together.
Known donor pool - a way
of trying to reduce the risk of infection from a blood transfusion
by only using blood from people who have been identified and
screened by the person receiving the blood.
Leukocyte - another name
for a white blood cell. Leukocytes are part of the immune
system to defend the body against infection.
Marrow - the tissue inside
of bones that produces the cells of the blood.
Medicaid - a government
program which pays medical bills for certain low- income people.
Medicare - a government
health insurance program for people age 65 and older and certain
Menopause - the time in
a woman’s life, usually between age 45 and 55, when
her ovaries stop releasing eggs and she ceases having a monthly
Menorrhagia - heavy and
prolonged menstrual bleeding. Periods that consistently last
longer than seven days with heavy bleeding.
Menstrual period - also
called menstruation or just a “period.” The shedding
of the lining of the uterus through the vagina. On the average,
it occurs every 28 days and lasts from three to five days.
Menstruation - a woman’s
monthly flow of blood and tissue from her uterus, often called
her “period.” Menstruation begins at puberty and
ends at menopause.
Miscarriage - the sudden
ending of a pregnancy before the fetus is able to survive
outside the womb. A miscarriage is most likely to happen early
in the pregnancy (during the first trimester).
Multimer - one of the parts
of the von Willebrand factor protein.
NovoSeven® - the brand
name for recombinant factor VIIa.
Obstetrician - a doctor
who specializes in pregnancy and childbirth.
Orthopedist - a doctor who
treats disease, injuries, and deformities of body parts such
as joints, muscles, or bones that are used in movement.
Periods - see Menstrual
Petechiae - tiny red dots
under the skin caused by bleeding from capillaries.
PFA-100® - A Platelet
Function Analyzer, a machine that measures the closure time
of a sample of blood. This is a measure of the adhesion and
aggregation abilities of the platelets in the blood.
Physical therapy - methods
used to maintain the health of, and to treat diseases of,
muscles, joints, and nerves. Some of the methods used are
regular exercise, water, and ice.
Plasma - the liquid part
of the blood. Plasma contains the clotting factors.
Plasmapheresis - a way of
donating blood in which a unit of blood is taken from the
person’s arm, the liquid (plasma) portion is separated
from the blood cells, and the cells are put back in the donor’s
body. Since only plasma is taken from the donor, the recovery
time is shorter than with donating whole blood.
Plasmin - an enzyme in the
blood that can break down the fibrin in a clot.
Platelet - a small disk-shaped
particle in the blood that is used in the clotting process.
Also called a thrombocyte.
Platelet aggregation testing
- a test to determine how well platelets clump together after
a chemical (called an agonist) is added to a blood sample.
Platelet count - a blood
test to see how many platelets are present in the blood. In
an adult, the normal count is about 150,000 to 400,000 platelets
in each cubic millimeter (mm of blood.
Platelet plug - a weak fix of a leaking blood vessel. It is
made when platelets begin sticking to each other at the site.
Platelet plug formation is part of the blood clotting process.
Policy - the printed document
that states the terms (rules and information) of an insurance
Porcine factor - factor
VIII concentrate made from the blood of pigs. It is mainly
used to treat bleeds in people with an inhibitor to factor
VIII. Porcine factor must be kept frozen until it is used.
Port - a medical device
that has two main parts: the small, round metal port that
has a rubber-like top and the soft plastic tube that is connected
to it. During surgery, the port is put under the skin and
the tube is put into a large vein in the upper chest. After
it heals, medicine may be given by sticking a special needle
through the skin into the port.
Pre-existing condition -
a health problem that has been discovered before the date
that a person’s insurance coverage begins.
Premium - the payment that
a policyholder is required to make to keep an insurance policy
Prophylactic - something
that protects against or prevents disease. In hemophilia,
a prophylactic treatment is factor given to prevent a bleed
Receptor - one of many spots
on the surface of a platelet that is designed to attach to
a certain protein or chemical such as von Willebrand factor
Recessive - see Dominant.
Recombinant factor concentrate
- a very pure type of factor concentrate that is not made
from human blood. It is produced by certain animal cells that
have been genetically altered to make human factor.
Red blood cells - also called
erythrocytes. The most common cells in the blood. They carry
oxygen from the lungs to all parts of the body.
Rider - an amendment to
an insurance policy that changes the policy by adding to or
taking away from its benefits or excluding certain conditions
Ristocetin - an antibiotic
that is no longer used to treat infections. It is now used
to diagnosis certain bleeding disorders. In normal blood,
ristocetin acts as an agonist to cause platelets to clump
together (agglutination). If platelets do not clump normally
when exposed to ristocetin, it can indicate a problem with
the von Willebrand factor.
Secretion - the process
of forming a platelet plug in which platelets release chemicals
into the bloodstream. These chemicals signal other platelets
to come and help cover the tear in the blood vessel.
Self-infusion . the act
of giving factor concentrate to yourself with little or no
Spleen - a fist-sized organ
found in the left side of the abdomen above the stomach. The
spleen destroys old and damaged cells, including platelets.
It also contains white blood cells to help fight infections.
Spontaneous bleeding - bleeding
that begins without an injury or any other known cause.
Stimate® - a brand name
for the nasal spray form of desmopressin acetate.
Storage Pool Disease - several
rare bleeding disorders in which the granules inside of the
platelets are not normal.
- injections (shots) given into the tissue just under the
Symptomatic carrier - a
woman who carries the gene for hemophilia and experiences
bleeding problems herself.
Thrombocyte — another
name for a platelet.
Thrombocytopenia - a below
normal number of platelets in the blood.
Thyroid gland - a butterfly-shaped
gland in the neck that produces hormones. It helps control
metabolism - how quickly or slowly the body uses energy.
Tourniquet - a band of material,
such as rubber, which goes around a limb to stop or slow the
flow of blood for a short time.
Tranexamic acid - see Cykiokapron®.
Transfusion - adding whole
blood, a blood product, or other substance to the blood stream
by means of a needle in a vein.
Unit - one unit of factor
VIII or IX is the amount of factor VIII or IX activity found
in 1 milliliter of normal plasma.
Uterus - commonly called
the “womb.” The pear-shaped organ in a woman’s
abdomen where a fertilized egg can grow into a fully-developed
Vasoconstriction - narrowing
of the blood vessels.
Vein - blood vessel which
carries blood from any part of the body back to the heart.
Venipuncture - sticking
a needle into a vein.
Virus - a tiny particle
that causes disease. Viruses take over living cells and use
them to reproduce.
von Willebrand Disease -
a blood clotting disorder in which the platelets have a decreased
ability to plug tears in the walls of blood vessels. It is
transmitted genetically and can affect both men and women.
von Willebrand factor -
a blood protein important in the clotting process. It carries
the factor VIII protein in the blood until it is needed. It
also binds platelets to an injured blood vessel to stop bleeding.
VWD - von Willebrand Disease.
VWF - von Willebrand factor.
White blood cells - the
common name for leukocytes. White blood cells are part of
the immune system to defend the body against infection.