HEMOPHILIA B: A REFERENCE GUIDE FOR PATIENTS AND FAMILIES

HEMOPHILIA B:
A REFERENCE GUIDE FOR
PATIENTS AND FAMILIES
Introduction - page 1
Glossary of Frequently Used Terms - page 2
Health Care Abbreviations - page 15
Pharmacy Abbreviations - page 21
Helpful Web Sites - page 24
References - page 27

---

HEMOPHILIA B: A REFERENCE GUIDE FOR PATIENTS AND FAMILIES
INTRODUCTION
From the United States National Library of Medicine and the National Institutes of Health
1
“Hemophilia is a hereditary bleeding disorder of specific blood clotting factors. There are
several types of hemophilia, including hemophilia A and B. Hemophilia A is 7 times more
common than hemophilia B. Hemophilia B is the result of a deficiency of clotting factor IX.
The disorder is caused by an inherited X-linked recessive trait, with the defective gene
located on the X chromosome. Females have two copies of the X chromosome, so if the
factor IX gene on one chromosome is defective, the other can compensate. Males, however,
have only one X chromosome, so if the factor IX gene on that chromosome is defective,
they will have the disease. Thus, more males than females have hemophilia.
Females with one defective factor IX gene are carriers of (they don’t have symptoms).
In women who are carriers, their male babies have a 50% chance of having the disease,
while their female babies have a 50% chance of being a carrier.
The severity of symptoms can vary, and the severe forms become apparent early on.
Bleeding is the main symptom of the disease and sometimes, though not always, occurs if
an infant is circumcised. Additional bleeding problems usually show up when the infant
becomes mobile.
Mild cases may go unnoticed until later in life, when they occur in response to surgery or
trauma. Internal bleeding may occur anywhere and bleeding into joints is common. Risk
factors are a family history of bleeding and being male.1”
This convenient guide has been prepared to help hemophilia B patients and their families
navigate through the maze of medical terminology often heard during conversations with
medical personnel, read in medical literature, and/or included in medication prescriptions
written by a physician. Helpful Web sites are also provided within this booklet for
reference and research purposes, to help one to stay current in scientific advancements
and improvements in the treatment of hemophilia B.
This booklet has been prepared with help from patient and caregiver members of the
Hemophilia B Consumer Advisory Board and is supported by an educational grant from
Wyeth Pharmaceuticals.
The health information contained herein is provided for educational purposes only and
is not intended to replace discussions between health care providers and patients. All
decisions about patient care must be made with a health care provider, considering the
unique characteristics of the patient.

---

2
GLOSSARY OF FREQUENTLY USED TERMS

---

HEMOPHILIA B: A REFERENCE GUIDE FOR PATIENTS AND FAMILIES
GLOSSARY OF FREQUENTLY USED TERMS
A
Acetaminophen—a crystalline compound used in chemical synthesis and in medicine instead
of aspirin to relieve pain and reduce fever.1
Acquired immune deficiency syndrome (AIDS)—a disease of the human immune system
3
that is characterized cytologically especially by a reduction in the numbers of CD4-bearing
helper T cells to 20% or less of normal, thereby rendering the subject highly vulnerable
to life-threatening conditions caused by infection with human immunodeficiency virus (HIV)
commonly transmitted in infected blood especially during illicit intravenous drug use and in
bodily secretions (such as semen) during sexual intercourse.1
Adherence—the extent to which the patient continues the agreed-upon mode of
treatment under limited supervision.2
Affinity chromatography—the separation of chemical substances and particles
where the absorbent has a unique chemical affinity for a particular component
of the passing solution.2
Albumin—any of numerous simple, heat-coagulable, water-soluble proteins that occur in
blood plasma or serum, muscle, the whites of eggs, milk, and other animal substances and
in many plant tissues and fluid.1
Amicar® (aminocaproic acid)—a drug useful in enhancing hemostasis when fibrinolysis
contributes to bleeding.3
Anamnestic response—secondary immune response; any response of the immune system
to an antigen including antibody production and/or cell-medicated immunity.2
Anaphylactic reaction—manifesting extremely great sensitivity to foreign protein or
other material.2 A small number of hemophilia patients may experience this reaction
after infusing with a factor concentrate.
Ancillary—auxiliary, accessory, or secondary.2 When pertaining to hemophilia B, ancillary
medical supplies used during an infusion may include syringes, needles, medical tape,
adhesives, alcohol swabs, gauze, and adhesive bandages.
Anemia—a condition in which the blood is either deficient in red cells, in hemoglobin,
or in total volume.4
Amicar is a registered trademark of Xanodyne® Pharmaceuticals, Inc.

---

HEMOPHILIA B: A REFERENCE GUIDE FOR PATIENTS AND FAMILIES
GLOSSARY OF FREQUENTLY USED TERMS
Antibodies—any of a large number of proteins of high molecular weight that are produced
normally by specialized B cells after stimulation by an antigen and act specifically against
the antigen in an immune response, that are produced abnormally by some cancer cells,
4
and that typically consist of 4 subunits including 2 heavy chains and 2 light chains – also
called immunoglobulin.1 Some persons with hemophilia may develop antibodies to
infused factor IX.
Antigen—any substance that, as a result of coming in contact with appropriate cells,
induces a state of sensitivity and/or immune responsiveness after a latent period.2
Arthropathy—any disease affecting a joint2; patients with severe hemophilia frequently
experience spontaneous intra-articular hemorrhages, mainly in the ankles, knees, and
elbows.5 Repeated episodes of hemarthrosis may cause irreversible arthropathy
characterized by joint stiffness, chronic pain, and severely limited range of motion.5
Aspirin—a white crystalline derivative C9H8O4 of salicylic acid used for relief of
pain and fever.1 Aspirin and aspirin-containing products are contraindicated in
individuals with hemophilia.6
Assay—a specialized lab test used to determine the level of circulating factor VIII or IX
in a person’s body. The test results are reported as a percentage of normal levels.4
Asymptomatic carrier (or just carrier)—a carrier (individual who possesses the gene) who
shows no outward signs of a condition.4
Autosome—any chromosome other than a sex chromosome.2
B
Bethesda Unit (BU)—a measure of inhibitor activity: the amount of inhibitor that will
inactivate 50% or 0.5 unit of a coagulation factor during the incubation period.2 (SEE TITER.)
Bioequivalent—having the same strength and similar bioavailability in the same dosage
form as another specimen of a given drug substance.7
C
Carrier—an individual possessing a specified gene and capable of transmitting it to
offspring but not expressing or only weakly expressing its phenotype.1

---

HEMOPHILIA B: A REFERENCE GUIDE FOR PATIENTS AND FAMILIES
GLOSSARY OF FREQUENTLY USED TERMS
Christmas disease—hemophilia B; a clotting disorder caused by hereditary deficiency
of factor IX.2
Chromatography—the separation of chemical substances and particles (originally
5
plant pigments and other highly colored compounds) by differential movement
through a 2-phase system.2
Chromosome—the threadlike structures inside human cells that contain genetic
information. Every human being has 23 pairs of chromosomes, which are passed
down from both parents.4
Chronic—referring to a health-related state, lasting a long time.2
Clot—to coagulate; said especially of blood.2
Clotting factors—these are important proteins needed to form blood clots.4
Coagulation—clotting; the process of changing from a liquid to a solid, said especially of
blood (ie, blood clot).2
Coagulation system (clotting cascade)—blood coagulation is regulated by the sequential
activation of vitamin K-dependent coagulation proteases within the intrinsic and extrinsic
pathways. This involves a complex series of reactions that occur as a cascade and culminates
in the generation of thrombin to convert soluble fibrinogen into insoluble fibrin.8
Coagulation System Factors2:
factor I
fibrinogen
factor II
prothrombin
factor III
tissue factor (thromboplastin)
factor IV
calcium ions
factor V
proaccelerin
factor VII
proconvertin
factor VIII
antihemophilic factor
factor IX
in the clotting of blood, also known as Christmas factor and plasma
thromboplastin component (PTC). It is required for the formation of
intrinsic blood thromboplastin and affects the amount formed rather
than the rate. Deficiency of factor IX causes hemophilia B.

---

HEMOPHILIA B: A REFERENCE GUIDE FOR PATIENTS AND FAMILIES
GLOSSARY OF FREQUENTLY USED TERMS
factor X
Stuart factor
factor XI
plasma thromboplastin antecedent
6
factor XII
Hageman factor
factor XIII
fibrin-stabilizing factor
Comprehensive care—the concurrent prevention and management of multiple physical
and emotional health problems of a patient over a period of time in relationship to
family, life events, and environment.9 Comprehensive care team members for hemophilia
include hematologists, pediatricians, nurses, social workers, dentists, orthopedists, and
physical therapists.10
Computerized axial tomography (CAT scan)—a sectional view of the body constructed by
computed tomography.1
Concentration (concentrate)—a preparation made by extracting a crude drug, precipitating
from the solution, and drying.2
Creutzfeldt-Jakob disease (CJD)—a human prion (SEE PRION)-related disease causing serious
neurological damage. Classic CJD and new variant CJD (vCJD) are separate conditions.
However, both diseases are rapidly progressive and always fatal. It is conceivable that CJD
could be transmitted through blood or blood products.4
D
Desmopressin acetate (DDAVP)—a synthetic hormone used to treat some people with
mild hemophilia or von Willebrand disease. The product increases the factor VIII levels
or von Willebrand factor levels in blood.4
Direct DNA analysis—the use of any test method, such as sequence analysis, mutation
scanning, or mutation analysis to detect a mutation in a gene.11
Discipline—field of study.12
DNA (deoxyribonucleic acid)—the molecule that encodes the genes responsible for the
structure and function of an organism and allows for transmission of genetic information
from one generation to the next.11

---

HEMOPHILIA B: A REFERENCE GUIDE FOR PATIENTS AND FAMILIES
GLOSSARY OF FREQUENTLY USED TERMS
E
Efficacy—the extent to which a specific intervention, procedure, regimen, or service
produces a beneficial result under ideal conditions.2 A drug’s effects can be evaluated in
7
terms of strength (potency) or effectiveness (efficacy).
Eutectic Mixture of Lidocaine and Prilocaine (EMLA®)—a local anesthetic for topical
application developed to anesthetize intact skin. It is used to prevent pain associated with
needle insertion, intravenous cannulation, and superficial surgery on skin.13
F
Fetoscopy—use of a fiberoptic endoscope to view the fetus and the fetal surface of the
placenta transabdominally, and also for collection of fetal blood from the umbilical vein
for antenatal diagnosis of fetal disorders, including hemophilia.2
Fibrin—a white insoluble fibrous protein formed from fibrinogen by the action of thrombin
especially in the clotting of blood.1
Filter needle—a small device which attaches to the head of a syringe in a conventional
manner and which carries a forwardly extending needle. It provides for automatically
filtering fluid ejected by the syringe through the needle mounted therein irrespective
of the volume of fluid which may be introduced into the syringe.14
Fractionation—the process of separating components of a mixture.2
Frenulum—a connecting fold of membrane serving to support or restrain a part,
eg, the tongue.1
Fresh frozen plasma (FFP)—separated plasma, frozen with 6 hours of collection, used in
hypovolemina and coagulation factor deficiency.2
G
Gastroesophageal—relating to both stomach and esophagus.2
Gene—a section of DNA; the chemical code of the body that controls production of
a protein.4
EMLA is a registered trademark of the AstraZeneca group of companies.

---

HEMOPHILIA B: A REFERENCE GUIDE FOR PATIENTS AND FAMILIES
GLOSSARY OF FREQUENTLY USED TERMS
Gene therapy—a method of replacing, manipulating, or supplementing a dysfunctional
gene with a functioning one. This evolving technique is currently being researched in
several inherited diseases, including hemophilia. There is hope that gene therapy will lead
8
to better treatments, and eventually cures.4
Genetic mutation—a permanent change in the DNA sequence that makes up a gene.15
H
Half-life—the time required for one-half of an amount of a drug or substance to be lost
through biological processes.2
Heat treatment—a method of treating human blood-clotting factor concentrate to reduce
the infectivity of a virus, such as hepatitis-causing or AIDS-causing virus, if present. The
method includes drying the concentrate or obtaining the concentrate dried by another
process, heating the concentrate at a plurality of different time-and-temperature
combinations, and then reconstituting the concentrate.16
Hemarthrosis—blood in a joint.2
Hematoma—a mass of usually clotted blood that forms in a tissue, organ, or body space as a
result of a broken blood vessel.1
Hematuria—the presence of blood or blood cells in the urine.1
Hemophilia A—a deficiency or absence of factor VIII. It has also been called “classic”
hemophilia.4
Hemophilia B—a deficiency or absence of factor IX. It has also been called “Christmas
Disease,” after the first family that was identified with the condition.4
Hemophilia treatment center (HTC)—a group of federally-funded hospitals that specialize in
treating patients with coagulation disorders. Each center has at least a hematologist, a
nurse, a social worker, and a physical therapist working as a team to deliver comprehensive
care to patients and families.4
Hemorrhage—an escape of blood through ruptured or unruptured vessel walls.2
Hemostasis—the process by which the body stops bleeding. It is the stoppage of blood
flow through a blood vessel or an organ of the body.4
Hepatitis—a group of viruses that can lead to infection and inflammation of the liver.4

---

HEMOPHILIA B: A REFERENCE GUIDE FOR PATIENTS AND FAMILIES
GLOSSARY OF FREQUENTLY USED TERMS
Hepatitis A (HAV)—acute, usually benign; spread primarily through food or water
contaminated by stool from an infected person; you may feel as if you have the flu, or
you may have no symptoms at all. It usually gets better on its own after several weeks.1
9
Hepatitis B (HBV)—sometimes fatal; spreads by contact with an infected person’s
blood, semen, or other body fluid; you may feel as if you have the flu, or you may have
no symptoms at all. HBV usually gets better on its own after a few months. There is a
vaccine for HBV.1
Hepatitis C (HCV)—spreads through contact with infected blood or through sex with
an infected person and from mother to baby during childbirth. Most people who are
infected with hepatitis C do not have any symptoms for years. It does not get better
by itself. The infection can last a lifetime and may lead to liver cancer. There is no
vaccine for HCV.1
Home care services—care that allows people with special needs to stay in their home.
It might be for people who are getting older, are chronically ill, recovering from surgery,
or disabled.1
Human immunodeficiency virus (HIV)—the virus that causes AIDS.4
I
Ibuprofen—an anti-inflammatory agent.2
Iliopsoas muscle—a compound muscle, consisting of the iliacus muscle and psoas
major muscle.2
Immune deficiency (immunodeficiency)—a condition resulting from a defective
immune mechanism.2
Immune system—an intricate complex of interrelated cellular, molecular, and genetic
components that provide a defense (immune response) against foreign organisms or
substances and aberrant native cells.2
Immune tolerance induction (ITI)—individuals with higher titer, clinically problematic
inhibitors, or even some with low-titer inhibitors, often undergo an ITI regimen in an
attempt to eradicate the inhibitor. For example, ITI regimens in hemophilia A consist of
frequent infusions of higher doses of FVIII.17
Inactivation—the process of destroying or removing the activity or the effects of an
agent or substance (eg, the complementary effect of a serum may be destroyed by
means of inactivation at 56°C for 30 minutes).2

---