Leukemia Overview: Symptoms, Signs, Treatment and Causes
Haemophilia: What Men Need To Know About This Genetic Bleeding Disorder
Genes are the building blocks of life that determine our traits and functions. They are inherited from our parents and located on chromosomes, which are thread-like structures found in the nucleus of cells that carry DNA and proteins. While some genetic variations lead to unique traits, others can cause inherited disorders, like haemophilia. If it is the first time you are hearing of it, it is all the more reason why you should continue reading. The OnlyMyHealth team interacted with Dr Kunal Sehgal, Managing Director and Chief Pathologist, Neuberg Sehgal Path Lab, who explains the genetic disorder and shares who could be more at risk for it.
Also Read: Study Finds New Gene Treatment May Lower Bleeding Risk In Hemophilia Patients
What Is Haemophilia?Dr Sehgal describes haemophilia as a rare genetic disorder where the blood doesn't clot properly due to a deficiency in clotting factors, which are proteins needed for blood clotting. This leads to prolonged bleeding after injuries and can cause spontaneous bleeding episodes, he adds.
According to the World Federation of Hemophilia (WFH), there are an estimated 8.15 lakh cases of haemophilia worldwide, of which only 3,47,026 are diagnosed, with 276,900 cases being severe haemophilia, as reported by a study published in Dovepress.
While nearly all people with haemophilia in high-income countries are diagnosed, this number drops to as low as 12% in lower-income countries, a 2023 study published in the Research and Practice in Thrombosis and Haemstasis found, highlighting the disparity in care, which was particularly evident in the age of diagnosis.
In high-income countries, people with severe haemophilia were typically diagnosed within the first year of life, whereas in low- and middle-income countries, the average age of diagnosis was around 35 years.
Are Men More Likely To Develop Haemophilia Than Women?Haemophilia occurs due to a mutation in the HEMA gene located on the X chromosome. This gene's location on the X chromosome makes haemophilia more common in males.
Dr Sehgal explains, "Men are more likely to develop haemophilia because it is an X-linked recessive disorder. Men have one X and one Y chromosome, so if they inherit an X chromosome with the haemophilia gene mutation, they will have the disorder. Women, however, have two X chromosomes, so even if one X chromosome carries the mutation, the other X chromosome usually provides enough clotting factor. Women are typically carriers and rarely show symptoms."
Also Read: Causes And Symptoms Of Hemophilia In Kids
Common Symptoms Of HaemophiliaThe main symptoms of haemophilia include:
"These symptoms can disrupt daily life, causing chronic joint pain, limited mobility, and prolonged recovery times after injuries or surgeries. Everyday activities may need to be modified to prevent excessive bleeding and manage discomfort," says Dr Sehgal.
Complications Associated With Untreated Haemophilia And How To Reduce RiskUntreated haemophilia can lead to severe complications such as chronic joint damage due to repeated bleeds, which can result in arthritis or joint deformities, warns the doctor.
He adds that there's also a risk of internal bleeding in organs, particularly the brain, which can be life-threatening. Anaemia and prolonged blood loss can also occur, especially with regular untreated bleeding episodes.
Therefore, it is important to note that men with haemophilia make lifestyle adjustments that minimise the risk of injury. This includes avoiding high-impact sports, wearing protective gear, engaging in low-impact activities like swimming or walking, and maintaining a healthy weight to reduce stress on joints. Regular physical therapy and exercises to strengthen muscles around joints can also help stabilise them and prevent bleeding, Dr Sehgal concludes.
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HC Asks Centre, Delhi Govt To Give Report On Stocks Of Injection For Rare Genetic Blood Disorder
Read by: 100 Industry Professionals
New Delhi: The Delhi High Court has directed the Centre and Delhi government to file their reports on the status of stocks of Antihemophilic Factor injection, which is administered to persons suffering from a rare genetic blood disorder. The court asked the governments to also give their status reports on the existing supply chain system for all the hospitals under their administration and listed the matter on December 12."The respondents are directed to file status reports with respect to the stock of the AHF injections, and the existing supply chain system for all the hospitals under their administration. The same be done within ten days," Justice Sanjeev Narula said in an order passed on November 28.
The court was hearing a petition by several persons suffering from haemophilia disease, which is a rare genetic blood disorder.The petitioners submitted that the treatment for this disease is expensive and requires injections of Antihemophilic Factor (AHF).
The said while the treatment for haemophilia is provided in the government hospitals, often there is insufficient stock of the injection which renders their lives at risk.
The plea sought a direction to the Centre and Delhi government to monitor the supply chain management of AHF injections in order to prevent any failure or stoppage in its supply and to develop contingency plans for critical shortage of the medication.
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'My Brother Got The Same Blood Treatment On The Same Day As Me – He Contracted HIV And Died. I Didn't
As RTÉ airs a new documentary charting the spread of the HIV virus in Ireland, Colm Walsh tells Kirsty Blake Knox how he 'dodged a bullet' when receiving injections to treat haemophilia. His brother wasn't so lucky
Colm Walsh, pictured at Fountainstown, Co Cork, only found out his brother had HIV a year after he had passed away. Photo: Daragh Mc Sweeney/Provision
Kirsty Blake Knox
Thu 28 Nov 2024 at 03:30In 1982, the first case of Aids was diagnosed in Ireland. The virus was to shatter the lives of many, including Irish patients living with haemophilia (a genetic disorder that affects the blood's ability to clot).
In 2002, the Lindsay Tribunal (set up in Ireland in 1999 to investigate the infection of haemophiliacs from contaminated blood products) found that a total of 106 people with haemophilia had been infected with HIV and 255 people with hepatitis C while receiving vital treatments intended to keep them alive.
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