Cousin marriages can contribute to risk of thalassemia

ISLAMABAD: Cousin or close-kin marriages can contribute to the risk of thalassemia in newborn babies, said Chief Executive Officer Islamabad Healthcare Regulatory Authority (IHRA) Dr Quaid Saeed on Monday.

Speaking on the occasion of World Thalassemia Day, the public health expert said: "Couples with similar genetic makeup are more likely to deliver a kid with thalassemia."

However, this disease can be identified through prenatal screening at a young age, said Dr Saeed, adding that its awareness among local people plays a pivotal role in controlling the thalassemia numbers.

He said that although thalassemia cannot be prevented, only some measures can reduce the risk of having this disease in newborns including parent genetic test for the presence of thalassemia gene, prenatal screening, preimplantation genetic diagnosis and provision of public awareness and education about thalassemia.

He said that thalassaemia is an inherited (genetically transmitted) autosomal recessive disorder acquired from parents (either or both).

Dr Saeed said: “It affects the red blood cells due to a genetic mutation, leading to the depletion of haemoglobin’s alpha or beta-globin chains. This results in low production of red blood cells and a lack of oxygenated blood supply to the body parts (anaemia).”

He said that there are many cases of thalassemia in the country. It affects pregnancies worldwide, of which many have thalassemia major, and most of these patients were born in poor or underdeveloped nations, he added.

The medic said that the treatment for major thalassemia can be exceedingly expensive and may involve stem cell transplants, continual blood transfusions, and chelation therapy.

It is, therefore, essential to prevent congenital defects (thalassemia) before birth rather than keep trying to treat the condition after birth, he added.

Dr Saeed said that World Thalassemia Day is a global healthcare event commemorated every year on May 8 to raise awareness about the condition among the local public and policymakers, apart from supporting and strengthening the morale of the victims who have battled for years with this fatal disease.

He said that on this day, many local and international organisations, patient associations, public authorities, and healthcare professionals get together to promote the importance of prenatal screening, counselling, prevention, management, or treatment of thalassemia in a patient-centred manner.

He said that World Thalassemia Day can be one of the opportunistic platforms where several private and governmental organisations carry out public education and healthcare campaigns for pregnant women, including genetic screening, counselling, and prenatal diagnosis.

In addition, on this day, organisations concerned can plan or implement new strategies and policies for thalassemia victims, including free blood transfusions or providing financial assistance.