Early diagnosis key to saving lives of people living with haemophilia, experts say

DAR ES SALAAM: A SIMPLE cut, a routine circumcision or a tooth extraction is rarely considered life-threatening. But for people living with haemophilia, these everyday events can become medical emergencies if the condition goes undiagnosed.

Health experts are raising concern over the low level of public awareness about haemophilia in Tanzania, warning that delayed diagnosis continues to expose many children to preventable disability and death from uncontrolled bleeding.

They say early detection, timely treatment and greater public awareness are essential to improving the quality of life of people living with the inherited bleeding disorder.

According to the Tanzania Haemophilia Society, more than 6,700 people are estimated to be living with haemophilia nationwide.

However, only a fraction has been diagnosed and enrolled in treatment programmes, leaving many at risk of severe complications due to lack of awareness and limited access to specialised care.

Although haemophilia is considered a rare disease, its impact is significant when diagnosis and treatment are delayed. According to the World Federation of Haemophilia (WFH), haemophilia A affects approximately one in every 5,000 male births, while haemophilia B affects about one in every 25,000 male births.

The disorder results from deficiencies of clotting factor VIII or IX, leading to recurrent bleeding episodes that, if left untreated, can cause chronic joint damage, disability and premature death.

According to World Hearth Organization (WHO) and international bleeding disorder experts, they say that early recognition is critical.

Warning signs of Haemophilia include prolonged bleeding after cuts or injections, excessive bruising, recurrent nosebleeds, swollen and painful joints caused by internal bleeding, prolonged bleeding following circumcision, surgery or tooth extraction, and a family history of bleeding disorders.

Dr Godfrey Orrota, a specialist in sickle cell disease and haemophilia from Muhimbili National Hospital (MNH), described haemophilia as an inherited disorder caused by a deficiency of clotting factors that help blood clot normally.

“Haemophilia is an inherited disorder caused by a deficiency of proteins, or clotting factors, that help blood clot. The major challenge for these patients is prolonged bleeding after an injury or surgical procedure,” said Dr Orrota.

He explained that while a person without haemophilia may stop bleeding within a few minutes after an injury, someone with the condition may continue bleeding for hours or even longer unless appropriate treatment is provided.

Dr Orrota said that many patients remain undiagnosed until they undergo procedures such as circumcision, tooth extraction or surgery, where excessive bleeding becomes the first warning sign.

He said, “a person with haemophilia can undergo circumcision or tooth extraction, but if the condition has not been diagnosed and proper treatment is not provided, the bleeding may continue and lead to serious complications, including death.”

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Beyond prolonged external bleeding, Dr Orrota said the disorder often causes internal bleeding into joints, particularly the knees, elbows and ankles.

These episodes lead to swelling, severe pain and, if left untreated, permanent joint damage.

He said parents should be alert when young children begin crawling or walking, as repeated swelling of the joints without significant injury can be an early indication of haemophilia.

Other warning signs include frequent nosebleeds, blood in urine or stool, vomiting blood, excessive bruising and prolonged bleeding after minor cuts or injections.

Dr Orrota explained that haemophilia primarily affects boys because the condition is inherited through the X chromosome.

He said women usually carry the defective gene without showing symptoms, although some female carriers may also experience bleeding problems.

“In Tanzania, about 99 per cent of diagnosed haemophilia patients are male because the condition is inherited through the X chromosome,” said Dr Orrota.

Although haemophilia is usually inherited, Dr Orrota added that a small proportion of patients develop the condition due to spontaneous genetic mutations, even when there is no family history.

He urged families and healthcare providers to seek medical evaluation whenever children experience unusual or prolonged bleeding, stressing that early diagnosis enables patients to receive clotting factor treatment before complications occur.

Paediatric surgeon from Muhimbili National Hospital, Dr Victor Ngota echoed the importance of early diagnosis, particularly before children undergo circumcision or any surgical procedure. He said some babies with haemophilia may appear healthy at birth and show no obvious signs until they sustain an injury or require surgery.

“Many children with haemophilia are born without obvious symptoms. The condition may only become apparent during circumcision or surgery because prolonged bleeding can threaten the child’s life if appropriate care is not provided,” said Dr Ngota.

According to Dr Ngota, proper screening before circumcision is critical, especially for children from families with a history of bleeding disorders.

He said healthcare workers should promote safe circumcision, ensuring children suspected of having haemophilia undergo appropriate assessment before the procedure.

He added that haemophilia should not prevent children from undergoing surgery, when necessary, provided the correct medical protocols are followed.

Dr Ngota said, “a patient with haemophilia can safely undergo surgery if all recommended medical procedures, including laboratory investigations and clotting factor replacement therapy, are completed beforehand.”

Dr Ngota further explained that fathers with haemophilia do not pass the condition directly to their sons because sons inherit the Y chromosome from their fathers, instead, daughters may become carriers and later pass the condition to their male children.

He advised families with a history of haemophilia to seek genetic counselling where available and encouraged women who experience unusually prolonged menstrual bleeding to undergo medical evaluation, as this may indicate an underlying bleeding disorder.

Health experts say increasing awareness among teachers, parents and healthcare workers is equally important.

Children with haemophilia require supportive school environments where corporal punishment and stigma are avoided because even minor injuries can trigger dangerous bleeding episodes.

Experts believe that with increased awareness, early diagnosis, availability of clotting factor medicines and expanded specialised services, people living with haemophilia can lead healthy, productive lives. They stress that no child should lose their life simply because a rare but treatable bleeding disorder went unrecognised.