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Haemophilia: Unveiling the bleeding disease

 Hemophilia arises due to the deficiency or malfunction of plasma coagulation factor VIII or factor IX. [iStockphoto]

Haemophilia, a rare genetic blood disorder primarily affecting males, is a non-communicable disease (NCD) with global implications.

According to the World Federation of Hemophilia (WFH), of the estimated 815,100 cases worldwide, only 347,026 are diagnosed, with 276,900 classified as severe haemophilia.

In Kenya, approximately one in every 10,000 individuals grapples with haemophilia, totalling around 5,500 cases. Alarmingly, only 945 Kenyans have been identified and are receiving treatment.

Professor Karanja Njoroge, Board Chair of the Kenya Hemophilia Association (KHA), explains that haemophilia inhibits the body's ability to produce clotting factors efficiently.

Consequently, individuals with haemophilia experience prolonged bleeding, and increased bruising susceptibility, and face the risk of bleeding to death without prompt intervention.

"Hemophilia arises due to the deficiency or malfunction of plasma coagulation factor VIII or factor IX," Professor Njoroge explains. "This x-linked recessive genetic disorder predominantly affects males, with females serving as carriers.

Although women typically have two X chromosomes, providing a buffer in case of abnormalities, they can still experience bleeding symptoms, such as prolonged and heavy menstruation, if they carry the abnormal X gene."

"The symptoms of haemophilia include joint bleeding leading to swelling, pain, or tightness, muscle and soft tissue bleeding resulting in haematoma formation, gum bleeding, post-injection or vaccination bleeding, blood in urine or stool, recurrent nosebleeds, and excessive bleeding from the umbilical stump in newborns," he continues.

While there is no cure for haemophilia, various treatment options are available to manage the disorder, these include blood transfusions and replacement of the deficient clotting factors, either factor VIII or factor IX, depending on the type and severity of haemophilia.

“Severe haemophilia can lead to the development of inhibitors, severe anaemia, joint deformities, pseudotumors, fractures, compartment syndrome, and complications in vital organs, potentially resulting in fatalities," he warns. "However, with adequate treatment, most patients can lead relatively normal lives with minimal disruption to daily activities."

Professor Njoroge advises individuals with haemophilia to seek comprehensive care at specialised treatment centres. He concludes that raising awareness about haemophilia is crucial for early diagnosis, prompt intervention, and effective management.

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