PENANG, 14 July 2018 – Malaysians are urged to have a better understanding and awareness of genetic diseases such as thalassemia and sickle cell diseases (SCD) to facilitate in taking preventive measures or in seeking early treatment to increase their chance of survival.

The Head of Malaysian Node of the Human Variome Project (MYHVP), Professor Zilfalil Alwi said, thalassemia and the other blood related diseases are often found in low-income and developing countries due to many factors, one of which is the lack of awareness of the disease.

He said, thalassemia is an inherited blood disorder in which the body produces an abnormal form of haemoglobin and showing symptoms such as bone deformities especially in the face, delayed growth and development, yellow or pale skin, excessive tiredness and so forth.

“Children are the most affected by the disease. The absence of a systematic or poor health system causes an increased mortality among the sufferers. Therefore, there is an urgent need to educate people to have greater awareness regarding this disease,” he said.

Zilfalil, who is also a Professor in Medical Genetics at Universiti Sains Malaysia (USM), said that during the Global Globin 2020 (GG2020) Challenge held in Penang recently, where the objective was to utilize the latest development in human genomics to fight against haemoglobin/blood-related diseases.

GG2020 is also part of the initiative under the Human Variome Projects (HVP) that focuses on the effort towards achieving four core areas of HVP including the setting of normative functions, promoting ethical behaviour, sharing of knowledge and capacity-building.

He added, GG2020 with the theme ‘Precision Medicine in Thalassemia’ will be a stepping stone in gaining further understanding on the latest and new advances in relation to the screening, prevention, management, and challenges in dealing with Thalassemia and SCD.

“Three to five percent of Malaysians are thalassemia carriers, with or without their knowledge. So public awareness is extremely important to help both the professional and community to seek better solutions to overcome the disease,” he said.

FACTS ABOUT THALASSEMIA:

1.    3 to 5% (estimated 1 in 20 people) of Malaysians are thalassemia carriers.

2.    It is a genetic disorder inherited from one or both parents.

3.    When a carrier marries a carrier, it would result in:

• 35      % of the child is at risk of having thalassemia
• 50      % of the child has the risk to become a carrier
• 25      % of the child being normal

Thalassemia CAN ONLY be detected and confirmed through blood tests.

The screening test for thalassemia is widely available in Malaysia.

Text: Marziana Mohamed Alias