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Transcript of Hemophilia
X-linked recessive trait, with a defective gene,
known as a factor located on the X chromosome. So, How does blood clot? Example 1 There is a 50% chance that the mother will pass the carrier gene
to each daughter.
There is a 50% chance that the son will inherit the infected
X chromosome and be positive for hemophilia. Representative regional gene assignments for human
chromosome 1 and the X chromosome.
AMY Amylase (salivary and pancreatic)
AT3 Antithrombin (clotting factor IV)
CB Color Blindness
DMD Duchene Muscular Dystrophy
FHM Fumarate Hrdratase (mitochondrial)
GDH Glucose Dehydrogenase
G6PD Glucose-6-phosphate Dehydrogenase
HEMA Hemophilia A (classic)
HGPRT Hypoxanthine-Guanine-Phosphoribosyl Transferase
PEPC Peptiidase C
PGK Phosphoglycerate Kinase
Rh Rhesus Blood Group (erythroblastosis fetalis) Types of Hemophilia 1 2 3 Hemophilia A It is most known as factor VIII deficiency or classic hemophilia.
This type of hemophilia is caused by a lack or decrease of clotting factor VIII. Hemophilia B
Hemophilia B is also known as Christmas disease and Factor IX hemophilia.
While hemophilia B is less common than hemophilia A, it still shares the same
symptoms and is also passed on genetically the same way. The difference
between hemophilia B and hemophilia A is that hemophilia B has a defective
IX factor. Symptoms
• Bleeding into joints,with associated pain and swelling
• Blood in the urine or stool
• Gastrointestinal tract and urinary tract hemorrhage
• Prolonged bleeding from cuts, tooth extraction, and surgery
• Spontaneous bleeding
• Bleeding of the mouth and gums
• Bleeding in the head of an infant after a difficult delivery
• Bleeding after circumcision
• Bleeding and/or severe bruising after injections Example 2 In this example there is a 100% chance of the
daughter becoming a carrier of hemophilia. Hemophilia is caused from a lack of protein factors found on the X chromosome. The Factors are numbered 1-13 and are represented by roman numerals, such as IX (9), VIII (8), and XI (11).The lower the levels of the protien factors produced, the more serious the case of hemophilia. Mild hemophilia 5–30 percent of normal clotting factor
Moderate hemophilia 1–5 percent of normal clotting factor
Severe hemophilia Less than 1 percent of normal clotting factor 3 Main Classifications of Hemophilia A & B Treatments Hemophilia C also known as Factor XI deficiency.
It is the rarest form of hemophilia and is the hardest to diagnose. Unlike hemophilia A and B, hemophilia C has no gender distinction. It is very difficult to establish just how many cases of hemophilia C there are since it’s symptoms present themselves in few instances, especially in men, and vary depending on severity.
In women on the other hand, hemophilia C presents its symptoms a bit more frequently, this is due to gynecological and obstetrical reasons.
Women with hemophilia C must regularly cope with;
abundant menstrual flow
excessive bleeding after delivery
voluntary or spontaneous abortion
and gynecological surgery 1 in 100,000 Important parts of Manageing Hemophilia:
Identifying the factor mutation in determining disease severity, the likelihood of inhibitor development, and the risk of anaphylaxis if an inhibitor develops.
Compiling a personal and family history of bleeding to help predict severity,
Receiving a joint and muscle evaluation, particularly if the individual describes a past hemarthrosis or muscle hemotoma.
Screening for hepatitis A,B, and C and HIV, particularly if blood products or plasma-derived clotting factors have been used.
Developing a baseline CBC and platelet count, especially if there is a history of nose bleeds, GI Bleeding, Mouth Bleeding, or in women, menorrhagia.
Management Plasma-Derived Factor Concentrates. Recombinant Factor Concentrate What do you think are good activities for a person with hemophilia? Recommended Activities:
cycling (with a helmet)
Canoeing Healthy Living Excercise Demonstration There are many important parts of living with hemophilia. One of these parts is living a healthy active life style. Studies have shown that strengthening muscles can help protect your body from spontanious bleeding and joint bleeding. Home Treatment Benefits Include
improved quality of life,
less pain and disability,
and less time lost from work or school Knee Strengthening Knee Strengthening Knee Stregthening Wrist and Elbow Home vs. Hospital based treatment Professionals Emergency While there are great benefits to home care, there is also a great responsibility on the patient and their care giver to be able to act accordingly in an emergency situation. The patient and family now must make the decisions about
when to treat, as well as being strict when adhering to prophylactic infusion schedules,
careful preparation and injection of the factor concentrate,
correct handling and storage of the product. Phychological & Emotional Care givers must learn to cope with mistakes and keep a clear mind.
Family members especially of young children must prepare for feelings of;
In order for home infusion programs to be successful at improving the quality of life many factors are needed, such as;
a strong support network
an extensive educational component
ongoing evaluation of the program’s effectiveness
adequate financial resources
and mutual accountability Hemophilia C For more information Please Contact:
The National Hemophilia Foundation
National Hemophilia Foundation
116 West 32nd Street, 11th Floor
New York, NY 10001
Phone: (212) 328-3700
Fax: (212) 328-3777