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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

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Thalassemia in Malaysia.

Zilfalil Bin Alwi¹, Sharifah-Nany Rahayu-Karmilla Syed-Hassan²

¹Human Genome Centre, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Kelantan, Malaysia.

|August 11, 2022

Summary

Thalassemia is a common genetic disorder in Malaysia, affecting diverse ethnic groups. A national program launched in 2004 focuses on prevention, public education, and patient management, including free access to treatments.

Keywords:

Malaysia Malaysian National Programme for Thalassemia Prevention and Control Malaysian Thalassaemia Registry Thalassemia

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A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy

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Area of Science:

Medical Genetics
Public Health
Hematology

Background:

Thalassemia is a prevalent inherited blood disorder in Malaysia, a multi-ethnic nation.
Significant percentages of the Malaysian population are carriers of alpha-thalassemia (α-thal) and beta-thalassemia (β-thal), including Hb E carriers.
In 2013, over 5,700 thalassemia patients were registered, with notable prevalence among Malay, Chinese, and Kadazan-Dusun ethnic groups.

Purpose of the Study:

To provide an overview of thalassemia prevalence, genetic mutations, and management strategies in Malaysia.
To highlight the national efforts in thalassemia prevention and control.
To underscore the accessibility of thalassemia treatment in Malaysia's healthcare system.

Main Methods:

Data compilation from the Malaysian Thalassaemia Registry.
Analysis of common α-thal gene deletions and nondeletional mutations.
Identification of prevalent β-thal mutations, including Hb E, within the Malay ethnic group.

Main Results:

Eight common α-thal mutations were identified, including deletions and nondeletional types.
Five types of β-thal mutations were common in Malays, with Hb E accounting for 76.0% of β-thal mutations.
Malaysia offers free access to iron chelation agents for thalassemia treatment and has a comprehensive national prevention and control program.

Conclusions:

Malaysia has a high burden of thalassemia, necessitating ongoing prevention and control efforts.
The national program, established in 2004, integrates public education, screening, diagnosis, and patient management.
The country's healthcare system provides accessible and free treatment options for thalassemia patients.