Diagnosis Haemophilia

1 diagnosis

1.1 before pregnancy
1.2 during pregnancy
1.3 after birth
1.4 classification

diagnosis

haemophilia can diagnosed before, during or after birth if there family history of condition. several options available parents. if there no family history of haemophilia, diagnosed when child begins walk or crawl. may experience joint bleeds or easy bruising.

mild haemophilia may discovered later, after injury or dental or surgical procedure.

before pregnancy

genetic testing , counselling available determine risk of passing condition onto child. may involve testing sample of tissue or blood signs of genetic mutation causes haemophilia.

during pregnancy

if become pregnant , have history of haemophilia in family, tests haemophilia gene can carried out. these include:

chorionic villus sampling (cvs) – small sample of placenta removed womb , tested haemophilia gene, during weeks 11-14 of pregnancy
amniocentesis – sample of amniotic fluid taken testing, during weeks 15-20 of pregnancy

there s small risk of these procedures causing problems such miscarriage or premature labour, may want discuss doctor in charge of care.

after birth

if haemophilia suspected after child has been born, blood test can confirm diagnosis. blood umbilical cord can tested @ birth if there s family history of haemophilia. blood test able identify whether child has haemophilia or b, , how severe is.

classification

there several types of haemophilia: haemophilia a, haemophilia b, haemophilia c, parahaemophilia, , acquired haemophilia a.

haemophilia a, recessive x-linked genetic disorder resulting in deficiency of functional clotting factor viii. haemophilia b, recessive x-linked genetic disorder involving lack of functional clotting factor ix. haemophilia c, autosomal genetic disorder involving lack of functional clotting factor xi. haemophilia c not recessive, heterozygous individuals show increased bleeding.

the type of haemophilia known parahaemophilia mild , rare form , due deficiency in factor v. type can inherited or acquired.

a non-genetic form of haemophilia caused autoantibodies against factor viii , known acquired haemophilia a. acquired haemophilia can associated cancers, autoimmune disorders , following childbirth.