Srinagar, May 08 (KNO): Thalassemia, a hereditary blood disorder that affects the body’s ability to produce healthy haemoglobin, continues to remain a growing health concern in Jammu and Kashmir, with doctors and health experts stressing the urgent need for awareness, timely diagnosis and preventive screening to reduce its spread.
Haemoglobin is an important protein present in red blood cells that carries oxygen throughout the body. In people suffering from thalassemia, the body either produces insufficient haemoglobin or abnormal haemoglobin, resulting in severe anaemia and several related complications.
Medical experts say that thalassemia is not an infectious disease but a genetic disorder passed from parents to children. A child develops severe thalassemia when both parents carry the defective thalassemia gene. If only one parent carries the gene, the child may become a carrier without developing severe symptoms.
Dr Javid Ahmad Reshie, posted in south Kashmir, explained to the news agency—Kashmir News Observer (KNO) that the primary cause of thalassemia is inherited genetic mutations affecting haemoglobin production. The disease is commonly divided into two major forms — Alpha Thalassemia and Beta Thalassemia — depending on which part of haemoglobin production is affected.
He said that in several cases, parents remain unaware that they are carriers until a child is diagnosed with severe thalassemia major.
"Children born with Thalassemia Major often require lifelong blood transfusions every few weeks to survive. Without proper treatment, the disease can lead to growth retardation, weakness, bone deformities, enlarged spleen, heart complications and iron overload due to repeated transfusions," he explained.
Dr Mohammad Ayoub Lone, another doctor at DHSK, said that common symptoms include persistent weakness, pale skin, fatigue, delayed growth, shortness of breath and recurrent infections. In severe cases, symptoms may appear within the first two years of life.
"Families dealing with thalassemia often face emotional and financial burdens because patients require continuous blood transfusions, iron chelation therapy and regular medical monitoring throughout life," Dr Lone said.
Doctors say that although treatment facilities have improved over the years, many patients from remote areas still struggle to access specialised care and a regular blood supply.
They believe that many carriers in the region remain undiagnosed because routine premarital or prenatal screening is still not widely practised.
Experts warn that without mass awareness and testing programmes, the burden of the disease may continue to rise.
Doctors particularly emphasise the need for screening among young couples and families with a history of blood disorders.
They said thalassemia can largely be prevented through awareness and genetic screening. The most effective preventive measures include premarital screening to identify carriers, genetic counselling for carrier couples, prenatal testing during pregnancy, public awareness campaigns in schools and colleges and voluntary blood donation support for patients.
If both partners are found to be carriers of thalassemia, they should seek proper genetic counselling before planning a family, the doctors advised.
They called for removing social stigma and encouraging open discussions regarding genetic disorders, which is essential for effective prevention.
Educational institutions, religious scholars, civil society groups and healthcare workers must work collectively in spreading awareness about the disorder and encouraging timely medical consultation, the doctors said—(KNO)