Haemophilia
Diagnosis
Source: NHS
In this topic (7)
Haemophilia can be diagnosed before, during or after birth if there's a family history of the condition. Several options are available to parents.
If there's no family history of haemophilia, it's usually only diagnosed when a child begins to walk or crawl. They may experience joint bleeds or easy bruising.
Mild haemophilia may only be discovered later, usually after an injury or a dental or surgical procedure.
Tests before pregnancy
Genetic testing and counselling are available to help determine the risk of passing the condition onto a child.
This may involve testing a sample of your tissue or blood to look for signs of the genetic mutation that causes haemophilia.
Tests during pregnancy
If you become pregnant and have a history of haemophilia in your family, tests for the haemophilia gene can be carried out.
These include:
- chorionic villus sampling (CVS) a small sample of the placenta is removed from the womb and tested for the haemophilia gene, usually during weeks 11-14 of pregnancy
- amniocentesis a sample of amniotic fluid is taken for testing, usually during weeks 15-20 of pregnancy
There's a small risk of these procedures causing problems such as miscarriage or premature labour , so you may want to discuss this with the doctor in charge of your care.
Tests after birth
If haemophilia is suspected after your child has been born, a blood test can usually confirm the diagnosis. Blood from the umbilical cord can be tested at birth if there's a family history of haemophilia.
A blood test will also be able to identify whether your child has haemophilia A or B, and how severe it is.
Articles for Haemophilia
Causes
Haemophilia is caused by an inherited genetic mutation that mainly affects males, due to the way it's passed from a parent to their child. A genetic mutation is a permanent alteration in the DNA sequence that makes up a gene.
Complications
Some people who take blood clotting factor medication may develop certain antibodies in their immune system, known as inhibitors.This happens if the immune system starts to treat clotting factors as foreign objects (like germs) and tries to block their effects.
Diagnosis
Haemophilia can be diagnosed before, during or after birth if there's a family history of the condition. Several options are available to parents. If there's no family history of haemophilia, it's usually only diagnosed when a child begins to walk or crawl.
Introduction
Haemophilia is an inherited condition that affects the blood's ability to clot. Normally, when you cut yourself, substances in the blood known as clotting factors combine with blood cells called platelets to make the blood sticky
Living with
With treatment, most people with haemophilia can live a normal life. However, there are some things you'll need to be careful of. You should avoid contact sports such as rugby. You also need to be careful taking other medications, because some can interfere with your blood's ability to clot.
Symptoms
The symptoms of haemophilia vary, depending on how severe the condition is, but the main sign is prolonged bleeding. The symptoms of an intracranial haemorrhage include: severe headache, stiff neck, vomiting, a change in mental state such as confusion, etc.
Treating
If your child is diagnosed with haemophilia, their recommended treatment plan will depend on how severe their haemophilia is. There are two main approaches to treatment: preventative treatment and on-demand treatment.
