3. INTRODUCTION
Hemophilia is usually an inherited bleeding disorder in which the blood
does not clot properly. This can lead to spontaneous bleeding as well as
bleeding following injuries or surgery. Blood contains many proteins called
clotting factors that can help to stop bleeding. People with hemophilia have
low levels of either factor VIII (8) or factor IX (9).
4. GENETICS
• The X and Y chromosomes are called sex chromosomes. The gene for
hemophilia is carried on the X chromosome. Hemophilia is inherited in an X-
linked recessive manner. Females inherit two X chromosomes, one from
their mother and one from their father (XX). Males inherit an X chromosome
from their mother and a Y chromosome from their father (XY). That means if
a son inherits an X chromosome carrying hemophilia from his mother, he will
have hemophilia. It also means that fathers cannot pass hemophilia on to
their sons.
• But because daughters have two X chromosomes, even if they inherit the
hemophilia gene from their mother, most likely they will inherit a healthy X
chromosome from their father and not have hemophilia. A daughter who
inherits an X chromosome that contains the gene for hemophilia is called a
carrier. She can pass the gene on to her children. Hemophilia can occur in
daughters, but is rare.
5. CONT…
• For a female carrier, there are four possible outcomes for each
pregnancy:
1.A girl who is not a carrier
2.A girl who is a carrier
3.A boy without hemophilia
4.A boy with hemophilia
6. SEVERITIES OF HEMOPHILIA
• The severity of hemophilia that a person has is determined by the amount of
factor in the blood. The lower the amount of the factor, the more likely it is
that bleeding will occur which can lead to serious health problems.
• In rare cases, a person can develop hemophilia later in life. The majority of
cases involve middle-aged or elderly people, or young women who have
recently given birth or are in the later stages of pregnancy.
(percentage breakdown of overall hemophilia population by severity)
Severe (factor levels less than 1%) represent approximately 60% of cases
Moderate (factor levels of 1-5%) represent approximately 15% of cases
Mild (factor levels of 6%-30%) represent approximately 25% of cases
7. TYPES OF HEMOPHILIA
The a several types of hemophilia but in this presentation will shall just focus on :
1. Hemophilia A
2. Hemophilia B
8. HEMOPHILIA –B
Hemophilia B (Christmas Disease) :This type is caused by a lack or decrease
of clotting factor IX.
9. SIGNS AND SYMPTOMS
Mild hemophilia A- 6% up to 49% of FVIII in the blood (Mild hemophilia B. 6% up
to 49% of FIX in the blood). People with mild hemophilia Agenerally experience
bleeding only after serious injury, trauma or surgery. In many cases, mild
hemophilia is not diagnosed until an injury, surgery or tooth extraction results in
prolonged bleeding. The first episode may not occur until adulthood. Women with
mild hemophilia often experience menorrhagia, heavy menstrual periods, and can
hemorrhage after childbirth.
Moderate hemophilia A. 1% up to 5% of FVIII in the blood.(Moderate hemophilia
B. 1% up to 5% of FIX in the blood.) People with moderate hemophilia A tend to
have bleeding episodes after injuries. Bleeds that occur without obvious cause are
called spontaneous bleeding episodes.
Severe hemophilia A. <1% of FVIII in the blood. (Severe hemophilia B. <1% of
FIX in the blood.) People with severe hemophilia A experience bleeding following
an injury and may have frequent spontaneous bleeding episodes, often into their
joints and muscles.
10. GENERAL SIGNS AND SYMPTOMS
Common signs of hemophilia include:
• Bleeding into the joints. This can cause swelling and pain or tightness in the joints;
it often affects the knees, elbows, and ankles.
• Bleeding into the skin (which is bruising) or muscle and soft tissue causing a build-
up of blood in the area (called a hematoma).
• Bleeding of the mouth and gums, and bleeding that is hard to stop after losing a
tooth.
• Bleeding after circumcision (surgery performed on male babies to remove the
hood of skin, called the foreskin, covering the head of the penis).
• Bleeding after having shots, such as vaccinations.
• Bleeding in the head of an infant after a difficult delivery.
• Blood in the urine or stool.
• Frequent and hard-to-stop nosebleeds.
11. DIAGNOSIS
• Medical history and blood tests are key to diagnosing hemophilia.
• If a person has bleeding problems, or if hemophilia is suspected, a physician
will ask about the person’s family and personal medical history, as this can
help to identify the cause.
• A physical examination will be carried out.
• Blood tests can provide information about how long it takes for blood to clot,
the levels of clotting factors, and which clotting factors, if any, are missing
• Blood test results can identify the type of hemophilia and its severity.
• For pregnant women who are carriers of hemophilia, doctors are able to test
the fetus for the condition after 10 weeks of pregnancy.
12. TREATMENT
• Hemophilia is treated with replacement therapy.
• This involves giving or replacing the clotting factors that are too low or
missing in a patient with the condition. Patients receive clotting factors by
injection or intravenously.
• Clotting factor treatments for replacement therapy can be derived from
human blood, or they can be synthetically produced in a laboratory.
• Synthetically produced factors are called recombinant clotting factors.
• Recombinant clotting factors are now considered the treatment of choice
because they further reduce the risk of transmitting infections that are carried
in human blood.
13. CONT….
• Some patients will need regular replacement therapy in order to prevent
bleeding. This is called prophylactic therapy.
• This is typically recommended for people with the severe forms of Hemophilia
A.
• Others receive demand therapy, a treatment that is given only after bleeding
begins and remains uncontrollable.
• Complications from treatment of hemophilia are possible, such as developing
antibodies to treatments and viral infections from human clotting factors.
• Damage to joints, muscles, and other body parts can occur if treatment is
delayed. Other treatments, for moderate forms of hemophilia A, include
desmopressin, a man-made hormone that stimulates the release of stored
factor VIII, and antifibrinolytic medicines that prevent clots from breaking
down.
