Signs, symptoms and diagnosis
Know and understand how to spot the signs and symptoms of haemophilia and discover the science behind a haemophilia diagnosis.
Symptoms of haemophilia
Haemophilia is lifelong congenital condition that usually presents from birth, meaning that the first signs and symptoms will often occur at a very young age, especially in severe cases. Whether you are looking at haemophilia A or haemophilia B, the signs and symptoms of this condition are generally the same and include:
(i.e. bleeding for no apparent/known reason), particularly into the joints, muscles, and soft tissues
EXCESSIVE BLEEDING FOLLOWING TRAUMA OR SURGERY
Early symptoms of joint bleeds in children at a very young age are a key indicator of severe haemophilia.
Depending on how severe the person's haemophilia is, will impact the amount of bleeding that will occur. For example, people with mild haemophilia may not have bleeding issues until they undergo surgery or experience trauma. However, people with severe haemophilia may experience bleeds into the joints and muscles or even organs.
Symptoms of haemophilia in babies
- Soft tissue and intramuscular bleeding
- Bleeding associated with a medical procedure e.g. circumcision or the heel prick test shortly after birth
- Oral or nasal bleeding
- Bleeding in the head (scalp or brain) after a difficult delivery
- Unusual raised bruises or large numbers of bruises. If a child is not diagnosed just after birth, the family might notice unusual bruising associated with crawling or learning to stand
Severe haemophilia usually shows presents very early on in life so is often diagnosed during the first years. People with milder forms of haemophilia might not be diagnosed until later in life.
Haemophilia is diagnosed by taking a blood sample and measuring factor levels in the blood. A haemophilia A test will look at the levels of factor VIII activity. A haemophilia B test will look at the levels of factor IX activity. If there is a family history of haemophilia, testing can be done before a baby is born.
For some parents with a family history of haemophilia, they may not wish to proceed with a prenatal testing due to associated risks, and instead will seek out genetic counselling.
Genetic counselling is the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. This process integrates:
- Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
- Education about inheritance, testing, management, prevention, resources, and research.
- Counselling to promote informed choices and adaptation to the risk or condition.
The ultimate goal of genetic counselling is to help patients use key genetic information to make informed decisions about their health. It enables people to understand and adapt to the medical, psychological, and familial implications of the genetic aspect of their disease.
Srivasta A et al, Haemophilia. 2020;26 Suppl 6:1-158
Centres of Disease Control and Prevention, Diagnosis of Hemophilia . Available from https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html [Last Accessed January 2021]
World Federation of Hemophilia. Introduction to Hemophilia, Symptoms and Diagnosis. 2020. Available from https://elearning.wfh.org/elearning-centres/introduction-to-hemophilia/#symptoms_and_diagnosis_hemophilia last Accessed January 2021.
Alabek M, Mohan R and Raia MH. Genetic Counselling for Hemophilia. World Federation of Hemophilia, July 2015, No 25.