The Fault In Our Blood

The Fault In Our Blood

April 17th was World Haemophilia Day: a day to remember the efforts of Frank Schnabel, the founder-father of the World Federation of Haemophilia (WFH). Schnabel, a haemophilic himself and aware of its perils, was eager to educate people about the disorder; he envisioned to extend care to not only those suffering but also support and bring their families together as well. Started in 1963, WFH garnered recognition from WHO in 1969, and since then the two bodies have been working closely on the global front.
Disappointing genes
The clotting of blood is a complicated biochemical process involving 13 types of protein called coagulation factors, referred as factors (F) I to XIII. Sometimes genetic mutations make F-VIII or F-IX go missing, or there is too little of them, leading to Haemophilia. The defect resides on the X chromosome. The anomaly of F- VIII leads haemophilia A and F- IX to type B.
Gender bias
Males are more prone to this disorder as they have a single X-chromosome, while females act as carriers. As women have two X-chromosomes, the healthy one compensates and overrides the faulty one —unless both the X are defective, which is extremely rare. Despite being carriers, women can exhibit bleeding symptoms.
The world statistics for haemophilia states that one in every 5,000 men are prone to type A while for type B it is one in every 20000.
In Australia, an estimated 2800 suffer from type A whereas there are 500 diagnosed type B haemophiliacs.
Fatal wounds
A haemophiliac encounters excessive bleeding even from minor cuts and bruises. Many times, bleeding is spontaneous (without cause) especially in joints and muscles which deteriorate fast and affecting their quality of life. The condition turns fatal with internal wounds — to vital organs or the brain— arising out of an otherwise harmless activity.
Treatment options
Currently, the only treatment for haemophilia is intravenously injecting the coagulation factors. It is neither curable nor preventable and is only managed. Replacement therapy requires injections as frequent as weekly or more depending on the percentage of the factor in the blood.
Gene therapy is active ongoing research to find a solution to this life-threatening condition.
Newfound hope
In December 2017, Professor John Rasko and his team at the Royal Prince Alfred Hospital in Sydney along with the Children’s Hospital, Philadelphia, succeeded in gene therapy for Haemophilia B. Their 20 years of study and clinical trials performed on a small group of participants resulted in combating the immune system; moreover, the experiments reveal the sustained level of the factor without side effects.
The study published in the New England Journal of Medicine has scope for further research, and now Rasko is targeting Haemophilia A.
A supporting hand
The Haemophilia Foundation Australia(HFA), working through its network of State and Territory Foundations ensures that people with bleeding disorders have access to the best of available treatment and care. As a not-for-profit organisation, HFA works in conjunction with WFH and the National Blood Authority. Preventive care, immediate medical assistance and being a part of support groups go a long way in managing haemophilia.


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