World Haemophilia Day is observed every year on 17 April to raise awareness about the debilitating blood disorder caused by missing or defective factor VII (FVIII), a clotting protein.
Because hemophilia patients are unable to form a strong blood clot after an injury, they continue to bleed, increasing the risk of death in severe cases. Even with minor bleeding, hemophilia patients are at risk of joint damage, which can later lead to disability. And other issues.
"The inherited disorder results from a deficiency or dysfunction of clotting factors important for coagulation, primarily factor VIII in hemophilia A and factor IX in hemophilia B. It is inherited in an X-linked recessive pattern, explaining its prevalence in males. Found in.Women may be carriers or experience mild symptoms because of their two
Therefore, it is important for affected individuals and healthcare providers to understand the genetic basis. Genetic counseling can help assess inheritance risk and inform reproductive decisions, the doctor said.
According to data from the Hemophilia and Health Collective of the North (HHCN), an estimated 1,36,000 people in India are suffering from hemophilia A.
, Of these, only 21,000 are currently registered.Nearly 80 percent of hemophilia cases in India remain undiagnosed as many hospitals and medical institutions do not have the capacity to test for blood clotting, impacting the diagnosis of new cases.
“In the field of hemophilia treatment, gene therapy emerges as a tool with transformative potential,” Tanmay said.
He explained that the therapy involves the precise delivery of functional genes to correct the underlying genetic defect responsible for the lack of clotting factor production in patients.
"With the help of viral vectors or other delivery systems, gene therapy aims to restore physiological balance and enable continued production of clotting factors within the body," he said.
Recent clinical trials have demonstrated encouraging results, highlighting both the safety and efficacy of this approach.This includes human clinical trials at the Christian Medical College (CMC) Vellore, a first for India.
CMC scientists deployed a new technology of using lentiviral vector to express the FVIII transgene in the patient's hematopoietic stem cells, which would then express FVIII from uniquely differentiated blood cells.
Currently, hemophilia can only be defeated by Factor VIII infusions. Complications can be prevented if there is preventive administration of Factor VIII, which is unfortunately very expensive for low- and middle-income countries, however, gene therapy can treat the disease. Can help in healing.
"Gene therapy is a potentially curative treatment for hemophilia. It uses an adenovirus vector where the hemophilia patient's defective gene is replaced by a functional gene.This treatment is not yet available in routine clinic practice even in western countries,” Anoop P, senior consultant in hematology, Aster RV Hospital, told IANS.
"Gene therapy enables the defective gene to be edited in utero in a child who is known to be born with hemophilia due to a strong family history," he said.
Doctors said that with intensive research on adaptation and long-term effects, Zen therapy promises to be a paradigm shift in the management and potentially cure of hemophilia.
Because hemophilia patients are unable to form a strong blood clot after an injury, they continue to bleed, increasing the risk of death in severe cases. Even with minor bleeding, hemophilia patients are at risk of joint damage, which can later lead to disability. And other issues.
"The inherited disorder results from a deficiency or dysfunction of clotting factors important for coagulation, primarily factor VIII in hemophilia A and factor IX in hemophilia B. It is inherited in an X-linked recessive pattern, explaining its prevalence in males. Found in.Women may be carriers or experience mild symptoms because of their two
Therefore, it is important for affected individuals and healthcare providers to understand the genetic basis. Genetic counseling can help assess inheritance risk and inform reproductive decisions, the doctor said.
According to data from the Hemophilia and Health Collective of the North (HHCN), an estimated 1,36,000 people in India are suffering from hemophilia A.
, Of these, only 21,000 are currently registered.Nearly 80 percent of hemophilia cases in India remain undiagnosed as many hospitals and medical institutions do not have the capacity to test for blood clotting, impacting the diagnosis of new cases.
“In the field of hemophilia treatment, gene therapy emerges as a tool with transformative potential,” Tanmay said.
He explained that the therapy involves the precise delivery of functional genes to correct the underlying genetic defect responsible for the lack of clotting factor production in patients.
"With the help of viral vectors or other delivery systems, gene therapy aims to restore physiological balance and enable continued production of clotting factors within the body," he said.
Recent clinical trials have demonstrated encouraging results, highlighting both the safety and efficacy of this approach.This includes human clinical trials at the Christian Medical College (CMC) Vellore, a first for India.
CMC scientists deployed a new technology of using lentiviral vector to express the FVIII transgene in the patient's hematopoietic stem cells, which would then express FVIII from uniquely differentiated blood cells.
Currently, hemophilia can only be defeated by Factor VIII infusions. Complications can be prevented if there is preventive administration of Factor VIII, which is unfortunately very expensive for low- and middle-income countries, however, gene therapy can treat the disease. Can help in healing.
"Gene therapy is a potentially curative treatment for hemophilia. It uses an adenovirus vector where the hemophilia patient's defective gene is replaced by a functional gene.This treatment is not yet available in routine clinic practice even in western countries,” Anoop P, senior consultant in hematology, Aster RV Hospital, told IANS.
"Gene therapy enables the defective gene to be edited in utero in a child who is known to be born with hemophilia due to a strong family history," he said.
Doctors said that with intensive research on adaptation and long-term effects, Zen therapy promises to be a paradigm shift in the management and potentially cure of hemophilia.
