8/9/2019 New Haemophilia

1/9

Haemophilia is a inherited and lifelong blood disorderHaemophilia is a inherited and lifelong blood disorderwhere an essential blood clotting factor is either party orwhere an essential blood clotting factor is either party or

completely missing. It occurs in all racial groups andcompletely missing. It occurs in all racial groups andaffects about 1 in 10,000 of the male population.affects about 1 in 10,000 of the male population.

Haemophilia is a inherited and lifelongHaemophilia is a inherited and lifelongblood disorder where an essential bloodblood disorder where an essential blood

clotting factor is either partly orclotting factor is either partly orcompletely missing. It occurs in all racialcompletely missing. It occurs in all racialgroups and affects about 1 in 10,000 ofgroups and affects about 1 in 10,000 of

the male population.the male population.

8/9/2019 New Haemophilia

2/9

Haemophilia is passed from parent to child, however it isnot infective in nature.

Men with haemophilia pass the faulty gene that hasmessages for haemophilia on to their daughters but nottheir sons. These daughters do not suffer from thedisease, however they carry the gene for Haemophilia intheir blood they called carriers.

When these daughters have babies, they may pass

haemophilia on to some of their children. Affected girlswill be carriers of the haemophilia gene, like them.Affected boys will suffer from haemophilia.

8/9/2019 New Haemophilia

3/9

There are apprx.13 blood clotting factors. If any one ofthese factors are missing then the person can havehaemophilia.

There are 3 types of haemophilia:-

Haemophilia A is a recessive X-linked genetic disorderinvolving a lack of functional clotting Factor VIII andrepresents 90% of haemophilia cases.

Haemophilia B is a recessive X-linked genetic disorderinvolving a lack of functional clotting Factor IX. It is similarto but less common than haemophilia A.

Haemophilia C is an autosomal genetic disorder (i.e. notX-linked) involving a lack of functional clotting Factor XI.haemophilia C is not completely recessive: heterozygousindividuals also show increased bleeding.

8/9/2019 New Haemophilia

4/9

8/9/2019 New Haemophilia

5/9

Internal or external bleeds : Examples of internal bleed like bleeding in the joints (haemarthrosis) or

spontaneous bleeding into the soft tissues or the muscle layers. Examples of external bleed include incessant bleeding after a external

trauma. Patients with mild haemophilia suffer minor bleeding episodes after

surgery or severe trauma Patients with severe haemophilia suffer frequent spontaneous bleeds. Patients with moderate haemophilia have variable symptoms which

manifest along a spectrum between severe and mild forms.

If not treated promptly, joint bleeds can lead to permanent joint damageand disfigurement.

One of the presenting symptoms could be anaemia.

8/9/2019 New Haemophilia

6/9

Blood coagulation tests: Blood is taken to takeplatelet counts and haemoglobin.

Genetic tests DNA analysis to see whether it

has been genetically passed on.Test for Anaemia

8/9/2019 New Haemophilia

7/9

Missing clotting factor can begiven intravenously Thisadded clotting factor only

lasts for a short time.Anaemia can be treated by

blood transfusions

8/9/2019 New Haemophilia

8/9

Arthropathy: swelling of joints

Hemorrhage: frequent bleeding

Iron deposits in the liver due to blood

transfusionOther infections also like HIV and Hepatitis C

during blood transfusion.

8/9/2019 New Haemophilia

9/9