Haemophilia: Understanding the warning signs

For years, women who carried the gene responsible for haemophilia were largely assumed to be unaffected. That understanding has since changed.

Some haemophilia carriers have reduced levels of clotting factors and can experience significant bleeding, sometimes for years without knowing why.

Geshimu Joshua, a medical practitioner at Kenyatta National Hospital who has worked with patients with haemophilia and other bleeding disorders in Kenya, says the long-held belief that carriers do not bleed has contributed to missed diagnoses and delayed care.

“In the past, people thought carriers never bled. But today we know that about one in three carriers will experience mild to moderate bleeding problems at some point in their lives,” says Dr. Geshimu.

Haemophilia A and B are inherited bleeding disorders caused by changes in genes responsible for blood clotting. Because these genes are located on the X chromosome, women can carry the altered gene without developing the severe form of haemophilia commonly seen in affected boys and men.

But being a carrier does not necessarily mean being symptom-free.

Some carriers have lower-than-normal levels of clotting factors, which can make them more vulnerable to bleeding following injuries, medical procedures, and childbirth or during menstruation.

For many women, the first warning sign may be their periods.

Unusually heavy or prolonged menstrual bleeding can easily be dismissed as a routine gynecological problem, particularly where awareness of inherited bleeding disorders remains low.

Other warning signs include unexplained or excessive bruising, frequent nosebleeds, prolonged bleeding from minor cuts, excessive bleeding following dental procedures and heavy bleeding after childbirth.

“These are among the most common,” says Dr. Geshimu.

The difficulty is that many of these symptoms can resemble conditions routinely managed in general medical and gynecological settings.

“Many local nurses and doctors mistake heavy periods for standard gynecology issues other than a bleeding disorder,” he says.

For a woman with a family history of haemophilia, however, persistent heavy bleeding should raise another question: could an inherited bleeding disorder be involved?

Family history can provide an important first clue. Doctors may ask whether a woman has relatives who have been diagnosed with haemophilia or who experienced unusual bleeding, particularly after surgery, dental procedures or childbirth.

A woman whose father has haemophilia is considered an obligate carrier because she inherits one of his X chromosomes. Other women may be carriers based on their family history and genetic testing.

Blood tests can help assess how well the blood is clotting and determine whether clotting-factor levels are lower than expected. Where available, genetic testing can identify the specific genetic change responsible for haemophilia.

But in Kenya, access to specialized testing remains a major challenge.

“The other challenge we have is cost and location of tests,” says Dr. Geshimu.

Specialised investigations are not readily available in all parts of the country. Some women may have to travel to referral hospitals, while the cost of testing, transport and follow-up can discourage families from seeking answers.

The challenge is even greater because many people living with haemophilia may never receive a formal diagnosis.

Doctors estimate that about 5,500 people in Kenya have haemophilia, yet only around one-fifth are officially identified and registered.

Behind every diagnosis, therefore, could be an entire family whose genetic risk remains unknown.

A boy diagnosed with haemophilia may have a mother, sisters, aunts and other female relatives who could potentially carry the gene.

Identifying these women is particularly important before pregnancy, childbirth or surgery.

A woman who knows she is a carrier can inform her healthcare team, allowing doctors to assess her bleeding risk and plan appropriate care. During pregnancy and delivery, this information can help clinicians prepare for potential complications and assess whether the baby could have haemophilia.

Genetic counselling is an important part of that process.

“Counselling gives women clear facts so they are not able to feel guilt or shame,” says Dr. Geshimu. “And then it helps them to make informed choices when planning for a family and ensures doctors prepare for a safe birth.”

The issue is not only medical. In some families and communities, women are unfairly blamed when a child is diagnosed with haemophilia because of limited understanding of genetics.

“In many communities, mothers are unfairly blamed for bringing sickness into the family due to lack of understanding about genetics,” says Dr. Geshimu.

Such blame can fuel stigma, family conflict and emotional distress.

But haemophilia is an inherited genetic condition. It is not caused by a mother's behavior, parenting or lifestyle.

Improving understanding of how haemophilia is inherited is therefore critical not only to improve diagnosis and treatment, but also to challenge the stigma surrounding women who carry the gene.

For women who suspect they may be carriers, Dr Geshimu's message is simple.

“The first thing is early diagnosis. So they should get checked.”

Women with a family history of haemophilia should tell their healthcare providers and discuss whether clotting tests, clotting-factor assessment or genetic testing are appropriate. This is especially important before surgery, dental procedures, pregnancy or childbirth.

Women who experience unusually heavy or prolonged periods, unexplained bruising, and frequent nosebleeds or prolonged bleeding should also seek medical advice, particularly when haemophilia is known to run in the family.

Being a carrier does not automatically mean a woman will experience severe bleeding. But knowing her status can help explain symptoms that may otherwise remain a mystery, enable doctors to plan safely for procedures and childbirth, and help families make informed decisions.