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INTRODUCTION TO THIS DISEASE:

Hemophilia is a bleeding disorder that slows down the blood clotting process. People who
have hemophilia often have longer bleeding after an injury or surgery. People who have
severe hemophilia have spontaneous bleeding into the joints and muscles. Hemophilia occurs
more commonly in males than in females.

TYPES OF HAEMOPHILIA:
The two most common types of hemophilia are hemophilia A (also known as classic
hemophilia) and hemophilia B (also known as Christmas disease). People who have
hemophilia A have low levels of a blood clotting factor called factor eight (FVIII). People
who have hemophilia B have low levels of factor nine (FIX). Hemophilia A is the most
common type of this condition. One in 5,000 to 10,000 males worldwide have hemophilia A.
Hemophilia B is less common, and it affects 1 in 20,000 to 34,500 males worldwide.

CAUSES OF THIS DISEASE:


Changes in the F8 gene are responsible for hemophilia A, while mutations in the F9 gene
cause hemophilia B. The F8 gene provides instructions for making a protein called
coagulation factor VIII. A related protein, coagulation factor IX, is produced from
the F9 gene. Mutations in the F8 or F9 gene lead to the production of an abnormal version of
coagulation factor VIII or coagulation factor IX, or reduce the amount of one of these
proteins. The altered or missing protein cannot participate effectively in the blood
clotting process. As a result, blood clots cannot form properly in response to injury. These
problems with blood clotting lead to continuous bleeding that can be difficult to control. The
mutations that cause severe hemophilia almost completely eliminate the activity of
coagulation factor VIII or coagulation factor IX. The mutations responsible for mild and
moderate hemophilia reduce but do not eliminate the activity of one of these proteins.

LEVELS OF SEVERITY:
There are 3 levels of severity in haemophilia: mild, moderate and severe. The level of
severity depends on the amount of clotting factor in the person's blood. A person with
haemophilia will have the same level of severity over their lifetime. Within a family, males
with haemophilia will also have the same level of severity. The normal range of factor VIII
and factor IX in a person's blood is between 50% and 150%.

These are as follows:

MILD HAEMOPHILIA:
 Present in 5-40 per cent of normal clotting factor
 Usually only have bleeding problems after having teeth taken out, surgery or a bad
injury or accident.
 Might never have a bleeding problem.

MODERATE HAEMOPHILIA:
 Present in 1-5 per cent of normal clotting factor
 Might have bleeding problems after having teeth taken out, surgery or a bad injury or
accident
 May have bleeding problems after minor injuries such as sporting injuries
 Rarely have a bleed for no obvious reason.

SEVERE HAEMOPHILIA:
 Present in less than 1 per cent of normal clotting factor
 Often have bleeds into joints, muscles and soft tissues
 Can have bleeds for no obvious reason, as well as after surgery, dental work or
injuries including minor bumps or knocks

HAEMOPHILIA INHERITENCE:
Haemophilia is an inherited condition and occurs in families. Men with haemophilia will pass
the gene on to their daughters but not to their sons. Women who carry the haemophilia gene
can pass the haemophilia gene on to their sons and daughters. Sons with the gene will have
haemophilia.
TESTS AND DIAGNOSIS:
 Hemophilia A and B are diagnosed by measuring factor clotting activity. Individuals
who have hemophilia A have low factor VIII clotting activity. Individuals who have
hemophilia B have low factor IX clotting activity.
 Genetic testing is also available for the factor VIII gene and the factor IX gene.
Genetic testing of the FVIII gene finds a disease-causing mutation in up to 98 percent
of individuals who have hemophilia A. Genetic testing of the FIX gene finds disease-
causing mutations in more than 99 percent of individuals who have hemophilia B.
 Genetic testing is usually used to identify women who are carriers of a FVIII or FIX
gene mutation, and to diagnose hemophilia in a fetus during a pregnancy (prenatal
diagnosis). It is sometimes used to diagnose individuals who have mild symptoms of
hemophilia A or B.

WHEN TO SEEK MEDICAL HELP:


 you or your child bruises easily and has bleeding that doesn't stop
 your or your child has symptoms of joint bleeds – for example, tingling, pain, or
stiffness in the joint, and the joint becoming hot, swollen, and tender.

TREATMENTS FOR HAEMOPHILIA:


Genetically engineered clotting factor medicines are used to prevent and treat prolonged
bleeding. These medicines are given as an injection. In milder cases, injections are usually
only given in response to prolonged bleeding. More severe cases are treated with regular
injections to prevent bleeding.