International Workshop on Hemoglobinopathies and Hemophilia at Bangalore

An update on the status of blood and bleeding disorders in India was presented by the Ministry of Health and Family Welfare, and the National Health Mission Workshop at an international workshop held on the 1st and 2nd of February at Bangalore. The event drew nearly 200 doctors, researchers, policymakers and government officials across India and SAARC countries, including international doctors from Italy and Greece and the respective presidents of the Thalassemia International Federation and World Hemophilia Federation. The goal of the workshop was to discuss clinical updates on the prevention and management of prevalent blood and bleeding disorders in Asia along with a discussion of initiatives and policies taken by the central and state governments of India. India is one of the few countries in South Asia to have rolled out a specific hemoglobinopathies policy (May 2016) to serve as operational guidelines to establish best practices in the care of thalassemia and sickle cell anemia. Thalassemia and sickle cell anemia programs are jointly funded by the National Health Mission and Ministry of Health and Family Welfare at the state level. People with thalassemia and sickle cell can avail free blood transfusions, iron chelation medications and tertiary care in all government hospitals and district medical centers in the state of Karnataka and many states in India like Maharashtra, Gujarat, Odisha, Punjab, Delhi, Chandigarh. The hemoglobinopathies guidelines include free antenatal and prenatal testing for mothers-to-be and pregnant mothers.

India also has a robust hemophilia program with support from the government. Patients with hemophilia can avail prophylactic factor treatment in all government hospitals. Several hospitals and centers across India offer comprehensive care for hemophilia with tertiary care, management, physiotherapy and rehabilitation. Some of the apex centers include CMC, Vellore; AIIMS and Ganga Ram hospitals at New Delhi; SGPI, Lucknow and PGI, Chandigarh.

Thalassemia sickle cell anemia, and hemophilia are lifelong, chronic disorders requiring treatment and care and the government’s step of providing free treatment and management has reduced the rate of morbidity among patients and reduced the financial burden on families.

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What are Blood and Bleeding Disorders?

Blood disorders are diseases affecting the production of normal red blood cells or hemoglobin in the body. In blood disorders, sufficient quantities of hemoglobin are not produced due to which children and adults suffering from this condition will need lifelong blood transfusions and other therapies. The most prevalent blood disorders globally are thalassemia and sickle cell anemia. The burden of Thalassemia is very high in South Asia with India leading the way. There are nearly 100,000 transfusion-dependent thalassemia patients in India with 10,000 live births each year. There are almost 40 million carriers of the disease in the country.

Bleeding disorders are conditions affecting the normal clotting of blood. This means the body does not produce the required protein to stem bleeding and heal injuries. People with bleeding disorders can also have spontaneous bleeds which can be life-threatening. Some of the most prevalent bleeding disorders in India include hemophilia A (factor VIII deficiency), hemophilia B (factor IX deficiency) and von Willebrand disease.

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Expert clinical updates on hemoglobinopathies

The workshop included experts in thalassemia and sickle cell anemia like Dr. Piga from Italy, Dr. Vip Viprakasit from Thailand, Dr. Vikram Mathew from Vellore, Dr. Tulika Seth and Dr. NK Verma from New Delhi. Some of the clinical updates shared by these experts include:

• While gene therapy with lentivector has made significant progress, doctors like Dr. Piga predict that gene editing will probably move faster in the pipeline
• Gene editing is safer and less expensive. Clinical trials for gene editing to correct thalassemia and sickle cell anemia will be beginning in 2018 with CRISPR-CAS9
• Adult thalassemia patients can look forward to gene therapeutics, while there has been good progress in bone marrow transplant (BMT) for children. The ideal age is 7 and below with no iron overload and controlled ferritin, no hepatomegaly or splenomegaly and no fibrosis in the liver with a 10/10 HLA (human leukocyte antigen) matched sibling
• Newer drugs for pediatric BMT conditioning for immunosuppression include treosulfan which has already given better results than the previous agent busulfan
• Thalassemia patients can look forward to newer pharmacologic agents like luspatercept that stall faulty erythropoiesis. Luspatercept has to be given once in three weeks as an intramuscular injection which promotes production of normal hemoglobin
• Dr. Tulika Seth from Delhi presented interesting data on activin signaling and transduction. Activin A is a hormone with a major role in fostering hematopoietic pluripotent stem cell maturation and growth. Pharmacologic agents like sotarecept are activin receptor ligand traps which can inhibit downstream signaling of activin thereby promoting better production of hemoglobin
• Fast-tracking clinical trials are now an option in India, where we can have just one phase III trial for safety, efficacy, and toxicity if the therapeutic has already received FDA or EMA approval
• Dr Reeta Rasaily presented ICMR initiative for national rare disease registries which includes Thalassemia. Registries are required to document genotypes, phenotypes and document the presence of co-morbidities in patients with the objective of a better understanding of the disease

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Expert clinical updates on hemophilia

Updates on hemophilia were provided by experts in the field like Dr. Kanjaksha Ghosh, Dr. Mahapatra, Dr. Alok Srivastava, Dr. AK Tripathi, Dr. Shashi Apte, Dr. Pamela, Dr. Chandrakala and Dr. Bryan. Some of the updates included:

• Evolving needs of patients to access prophylactic factor replacement therapy aimed at preventive episodes rather than seeking treatment after bleeding episodes
• Need for comprehensive management in hemophilia which includes access to orthopedic care for bleeding in the joints and access to physiotherapy and rehabilitation centers
• The problem of developing inhibitors which reduce the effectiveness of FVIII treatment is common in hemophilia. Patients who receive regular prophylactic treatment have a lesser chance of developing such inhibitors than those who receive episodic replacement
• Various aspects of the state hemophilia registry was discussed by Dr. Cecil Ross. Such registries enable doctors and patients keep track of the number of bleeding episodes and treatments received. The registry allows for systematic tracking of patients’ progress
• Dr. Bryan informed the audience about the newer products in hemophilia care including emicizumab which is very effective for those patients who have developed inhibitors. Gene therapy for hemophilia A has proved to be successful in trials and patients can look forward to a final curative

The workshop was successful in sharing best practices among clinicians, researchers, and caregivers for the blood and bleeding disorders. Patients who were present at the seminar were able to resolve their doubts and avail expert advice. There were in-depth deliberations on prevention of genetic disorders with genetic testing and prenatal testing which give us hope of much-needed prevention methods around the horizon. Such workshops benefit the clinician and patient community in upgrading their knowledge about the disease.

References:

1. Blood Disorders - (http://www.hematology.org/Patients/Blood-Disorders.aspx)
2. Bleeding Disorders - (http://www.hematology.org/Patients/Bleeding.aspx)

Source-Medindia