Experts urge public to undergo screening, testing for timely diagnosis, prevention from thalassemia

PESHAWAR, (APP - UrduPoint / Pakistan Point News - 7th May, 2026) Experts on rare diseases, in their separate messages issued on the occasion of World Thalassemia Day 2026 being observed on May 8, urged the public to adopt preventive measures and undergo proper screening and testing for timely diagnosis, prevention and effective management of thalassemia.

Professor Dr. Musharraf Jelani of Khyber Medical University and an expert in DNA sequencing said the only effective way to prevent children from being born with thalassemia was proper DNA testing.

He said genetic screening could help identify the causes behind the disease and enable families to make informed decisions before marriage.

“People should undergo thalassemia testing before marriage and avoid marriages where there was a high risk of children being born with the disease,” he advised.

Dr. Qaiser Zaman, a specialist in diagnosing hereditary diseases, said thalassemia affects the structure of red blood cells, reducing or completely impairing their ability to carry oxygen in the body.

“As a result, affected children suffer from partial or severe anemia and often require frequent blood transfusions,” he said.

He added that DNA and genetic testing not only help in comprehensive diagnosis of existing patients but also assist in identifying risks for future generations.

Dr. Qaiser said although the government has made pre-marital testing mandatory to help prevent the disease, parents should also ensure DNA testing of their children before marriage to safeguard future generations from thalassemia.

Taimur Khan, an expert in DNA sequencing, said several types of DNA tests were available, including genome, exome, Sanger and NGS gene panel tests.

He said most thalassemia patients undergo Sanger or exome testing, which helped diagnose the majority of cases.

“Gene panel and genome tests are comparatively expensive and therefore less commonly conducted, despite being highly effective in detecting the disease comprehensively,” he observed.

He advised families to select appropriate diagnostic tests to identify the root causes of the disease accurately.

Professor Dr. Tariq Masood, who has extensive experience in the treatment and care of thalassemia patients, said the disease could be managed at different stages through proper medical care and treatment.

He said medicines and continuous medical supervision could help control the suffering of patients, while advanced treatment options such as bone marrow transplant and stem cell therapy also offered hope for patients.

Dr. Tariq emphasized upo, the importance of regular consultation with doctors for continuous guidance and effective management of the disease.