Latest news with #VonWillebrandDisease
The Print
23-06-2025
- Health
- The Print
ICMR's NIIH develops simple point of care test for haemophilia A, Von Willebrand Disease
Bleeding disorders such as haemophilia A and Von Willebrand Disease (VWD) represent significant public health challenges in India due to underdiagnosis and limited access to diagnostic facilities. The test offers a promising alternative to the current standard of care which relies on complex and costly diagnostic procedures limited to very few tertiary facilities in India, Dr Rucha Patil, scientist at the National Institute of Immunohaematology (NIIH) in Mumbai, said. New Delhi, Jun 23 (PTI) A simple and affordable point-of-care test kit has been indigenously developed by the National Institute of Immunohaematology for early diagnosis of genetic bleeding disorders haemophilia A and Von Willebrand Disease. The point-of-care (PoC) test costs just Rs 582 while the current lab-based tests cost around Rs 2,086, Dr Bipin Kulkarni, scientist, at NIIH, said. The test kit was invented by former scientist Dr Shrimati Shetty and former ICMR postdoctoral fellow from NIIH Dr. Priyanka Kasatkar. The World Federation for Haemophilia has shown interest in procuring these tests for deployment in countries where the disease is prevalent, Dr Manisha Madkaikar, director of NIIH, Mumbai and Centre for Research Management and Control of Haemoglobinopathies (CRHCM) in Nagpur under the ICMR, said. 'For India, this new rapid, visual card testing device has made testing possible even at primary health centres bringing diagnosis closer to the people who need it most. By using these PoC kits at PHCs and other local health centres, India can find and treat these bleeding disorders early, improve patient outcomes, and cut healthcare costs dramatically. This is a major step toward improving care for one of the country's most neglected health issues', Dr Madkaikar said. The Health Technology Assessment (HTA) analysis team of ICMR and Department of Health Research (DHR) recommended that the PoC kits for haemophilia A and VWD are suitable for primary facility-based screening and suggested integration of the test into the national health programs at primary healthcare level. This is currently being implemented in different states, Dr Kulkarni said. 'This kit could help detect over 83,000 undiagnosed cases', he said, adding, 'It would save the health system about Rs 42 crore, which is three times cheaper than the current method'. Haemophilia A and VWD are the two most common inherited bleeding disorders. People with these conditions often suffer from joint swelling, easy bruising, muscle bleeding, and in women, heavy menstrual bleeding or complications during childbirth. 'India is estimated to have 1.5 lakh people with haemophilia, but only about 27,000 are officially diagnosed,' Dr Patil said. 'Incidence of haemophilia A is 1 in 5,000 male births. VWD is known to affect 1 per cent of general population,' she said. 'Haemophilia A is passed down in families through the X chromosome (X linked recessive disorder)', Dr Patil explained. 'Boys are usually the ones who have the disease, because they have only one X chromosome. If that X has the faulty gene, they don't have a 'backup' and will show symptoms. Girls usually have two X chromosomes, so if one X has the faulty gene, the other X can often make up for it. These girls are called 'carriers',' he said. 'The VWD is an autosomal disease. This means both males and females can get it equally. It is not linked to gender like haemophilia,' Dr Patil added. PTI PLB DV DV This report is auto-generated from PTI news service. ThePrint holds no responsibility for its content.
Time of India
23-06-2025
- Health
- Time of India
ICMR's NIIH develops simple point of care test for haemophilia A, Von Willebrand Disease
A simple and affordable point-of-care test kit has been indigenously developed by the National Institute of Immunohaematology for early diagnosis of genetic bleeding disorders haemophilia A and Von Willebrand Disease . The test offers a promising alternative to the current standard of care which relies on complex and costly diagnostic procedures limited to very few tertiary facilities in India, Dr Rucha Patil, scientist at the National Institute of Immunohaematology ( NIIH ) in Mumbai, said. Bleeding disorders such as haemophilia A and Von Willebrand Disease (VWD) represent significant public health challenges in India due to underdiagnosis and limited access to diagnostic facilities. by Taboola by Taboola Sponsored Links Sponsored Links Promoted Links Promoted Links You May Like Nunca use o saca-rolhas para abrir um vinho. O motivo vai te surpreender Blog Amo Vinhos Undo The point-of-care (PoC) test costs just Rs 582 while the current lab-based tests cost around Rs 2,086, Dr Bipin Kulkarni, scientist, at NIIH, said. The test kit was invented by former scientist Dr Shrimati Shetty and former ICMR postdoctoral fellow from NIIH Dr. Priyanka Kasatkar. Live Events The World Federation for Haemophilia has shown interest in procuring these tests for deployment in countries where the disease is prevalent, Dr Manisha Madkaikar, director of NIIH, Mumbai and Centre for Research Management and Control of Haemoglobinopathies (CRHCM) in Nagpur under the ICMR, said. "For India, this new rapid, visual card testing device has made testing possible even at primary health centres bringing diagnosis closer to the people who need it most. By using these PoC kits at PHCs and other local health centres, India can find and treat these bleeding disorders early, improve patient outcomes, and cut healthcare costs dramatically. This is a major step toward improving care for one of the country's most neglected health issues", Dr Madkaikar said. The Health Technology Assessment (HTA) analysis team of ICMR and Department of Health Research (DHR) recommended that the PoC kits for haemophilia A and VWD are suitable for primary facility-based screening and suggested integration of the test into the national health programs at primary healthcare level. This is currently being implemented in different states, Dr Kulkarni said. "This kit could help detect over 83,000 undiagnosed cases", he said, adding, "It would save the health system about Rs 42 crore, which is three times cheaper than the current method". Haemophilia A and VWD are the two most common inherited bleeding disorders. People with these conditions often suffer from joint swelling, easy bruising, muscle bleeding, and in women, heavy menstrual bleeding or complications during childbirth. "India is estimated to have 1.5 lakh people with haemophilia, but only about 27,000 are officially diagnosed," Dr Patil said. "Incidence of haemophilia A is 1 in 5,000 male births. VWD is known to affect 1 per cent of general population," she said. "Haemophilia A is passed down in families through the X chromosome (X linked recessive disorder)", Dr Patil explained. "Boys are usually the ones who have the disease, because they have only one X chromosome. If that X has the faulty gene, they don't have a 'backup' and will show symptoms. Girls usually have two X chromosomes, so if one X has the faulty gene, the other X can often make up for it. These girls are called 'carriers'," he said. "The VWD is an autosomal disease. This means both males and females can get it equally. It is not linked to gender like haemophilia," Dr Patil added.
Scoop
26-05-2025
- Health
- Scoop
New Zealand Farm Dog Genetic Study Shows Top Five Health Risks
Press Release – Pamu Farms The Massey University research team behind the Right Dog for the Job project has so far analysed the DNA of 249 farm dogs, most sourced from Pmu (Landcorp Farming Ltd) farms. The initial tranche of the first genetic study of working farm dogs in New Zealand has uncovered five significant inherited health conditions across the selected huntaway and heading dog populations. The Massey University research team behind the Right Dog for the Job project has so far analysed the DNA of 249 farm dogs, most sourced from Pāmu (Landcorp Farming Ltd) farms. The study looks for genetic variants linked to disease, paving the way for better breeding practices and improved working dog health. 'We have been encouraging our shepherds to get their dogs tested as part of the Right Dog Project,' says Pāmu CE Mark Leslie. 'It's not only good for their breeding decisions, but ultimately building research and development of genetic information about working dogs will contribute to improving the health of farm dogs across the motu.' The study has so far genome-sequenced 130 huntaways, 104 heading dogs, and 15 mixed breeds. Researchers focused on 400 known genetic mutations previously reported in other dog breeds, pinpointing 27 variants present in New Zealand's farm dogs — five of which could lead to serious health issues. The five most notable genetic conditions found include: Vitamin B12 Deficiency (CUBN variant) – Can cause poor growth and health if untreated (6 carriers). Neuronal Ceroid Lipofuscinosis (NCL) (CLN8 variant) – A severe brain disease leading to loss of movement, seizures, and blindness (21 carriers). Mucopolysaccharidosis IIIA (SGSH variant) – A rare neurological disorder affecting huntaways (5 carriers). Degenerative Myelopathy (DM) (SOD1 variant) – A spinal cord disease that can result in progressive mobility loss (46 carriers, 5 affected dogs). Von Willebrand Disease (VWF variant) – A bleeding disorder that makes dogs vulnerable to excessive blood loss (9 carriers, 1 affected dog). Since these conditions are recessive, dogs carrying only one affected gene do not develop the disease. However, if two carriers are bred together, up to 25% of their puppies could be affected. The findings demonstrate the importance of genetic testing working dogs before breeding them, to avoid producing puppies with life-threatening conditions.
Scoop
26-05-2025
- Health
- Scoop
New Zealand Farm Dog Genetic Study Shows Top Five Health Risks
The initial tranche of the first genetic study of working farm dogs in New Zealand has uncovered five significant inherited health conditions across the selected huntaway and heading dog populations. The Massey University research team behind the Right Dog for the Job project has so far analysed the DNA of 249 farm dogs, most sourced from Pāmu (Landcorp Farming Ltd) farms. The study looks for genetic variants linked to disease, paving the way for better breeding practices and improved working dog health. 'We have been encouraging our shepherds to get their dogs tested as part of the Right Dog Project,' says Pāmu CE Mark Leslie. 'It's not only good for their breeding decisions, but ultimately building research and development of genetic information about working dogs will contribute to improving the health of farm dogs across the motu.' The study has so far genome-sequenced 130 huntaways, 104 heading dogs, and 15 mixed breeds. Researchers focused on 400 known genetic mutations previously reported in other dog breeds, pinpointing 27 variants present in New Zealand's farm dogs — five of which could lead to serious health issues. The five most notable genetic conditions found include: Vitamin B12 Deficiency (CUBN variant) – Can cause poor growth and health if untreated (6 carriers). Neuronal Ceroid Lipofuscinosis (NCL) (CLN8 variant) – A severe brain disease leading to loss of movement, seizures, and blindness (21 carriers). Mucopolysaccharidosis IIIA (SGSH variant) – A rare neurological disorder affecting huntaways (5 carriers). Degenerative Myelopathy (DM) (SOD1 variant) – A spinal cord disease that can result in progressive mobility loss (46 carriers, 5 affected dogs). Von Willebrand Disease (VWF variant) – A bleeding disorder that makes dogs vulnerable to excessive blood loss (9 carriers, 1 affected dog). Since these conditions are recessive, dogs carrying only one affected gene do not develop the disease. However, if two carriers are bred together, up to 25% of their puppies could be affected. The findings demonstrate the importance of genetic testing working dogs before breeding them, to avoid producing puppies with life-threatening conditions.
Time of India
09-05-2025
- Health
- Time of India
Govt hosp performs C-section on woman with rare disease
Mangaluru: Government Lady Goschen Hospital here has successfully performed surgery on a pregnant woman suffering from life-threatening haemophilia, giving a new lease of life to both mother and woman, who inherited Von Willebrand Disease (VWD), a bleeding disorder, had received treatment at a private hospital since childhood. After getting married, she conceived but faced the risk of bleeding due to haemophilia during pregnancy, which could be disease is primarily caused by a deficiency of Factor VIII, which is crucial in stopping bleeding. This factor needs to be artificially administered regularly. Unfortunately, treatment for this rare condition, affecting one in a lakh, is not easily accessible, and the injections derived from plasma are expensive. Operation Sindoor PM Modi meets NSA, chiefs of armed forces amid spike in tensions with Pak India's air defence systems shoot down Pak drones in J&K, Punjab & Rajasthan Several airports in India to be closed till May 15 - check list The costs proposed by private hospitals were beyond her expectations. In such cases, maternal death is almost medical superintendent Dr Durgaprasad MR said despite understanding the seriousness of her condition, the woman, caught in a dilemma due to family reasons, was determined to become a mother, even at the cost of her life. "Her relatives consulted Dr Sharath Kumar at Wenlock Blood Bank about the supply of Factor VIII injections . Given the complexity of her pregnancy, Government Lady Goschen Hospital took on the challenge of ensuring the safety of both mother and child. The govt arranged for the weekly administration of the necessary injections throughout her pregnancy. She was admitted to the hospital 20 days before her expected delivery date, and a caesarean section was safely performed with all preparations in place. The govt provided 25,000 units of this rare and expensive injection during her care," Dr Durgaprasad and gynaecologists Dr Anupama Rao, Dr Siriganesh, Dr Namitha, anaesthetists Dr Sumesh Rao, Dr Ranjan, and the nursing staff at the hospital helped in the task. After about 10 days of postnatal care, the woman returned home.
