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Volume : 36 Issue : 3 Year : 2020



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Molecular Detection of alpha Thalassemia: A Review of Prevalent Techniques [Medeniyet Med J]
Medeniyet Med J. 2021; 36(3): 257-269 | DOI: 10.5222/MMJ.2021.14603  

Molecular Detection of alpha Thalassemia: A Review of Prevalent Techniques

Divashini Vijian1, Wan Suriana Wan Ab Rahman2, Kannan Thirumulu Ponnuraj1, Zefarina Zulkafli3, Noor Haslina Mohd Noor3
1School of Dental Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian Kelantan, Malaysia.
2School of Dental Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian Kelantan, Malaysia & Hospital Universiti Sains Malaysia, 16150 Kubang Kerian Kelantan, Malaysia
3Hospital Universiti Sains Malaysia, 16150 Kubang Kerian Kelantan, Malaysia & Department of Hematology, School of Medical Sciences, Universiti Sains Malaysia, 16150 Kubang Kerian Kelantan, Malaysia.

Alpha thalassemia (α-thalassemia) is an autosomal recessive disorder due to the reduction or absence of α globin chain production. Laboratory diagnosis of α-thalassemia requires molecular analysis for the confirmatory diagnosis. A screening test, comprising complete blood count, blood smear and hemoglobin quantification by high performance liquid chromatography and capillary electrophoresis, may not possibly detect all the thalassemia diseases. This review focused on the molecular techniques used to detect α-thalassemia, and the advantages and disadvantages of each technique were highlighted. Multiplex gap-polymerase chain reaction, single-tube multiplex polymerase chain reaction, multiplex ligation-dependent probe amplification, and loop-mediated isothermal amplification were used to detect common deletion of α-thalassemia. Furthermore, the reverse dot blot analysis and a single tube multiplex polymerase chain reaction could detect non-deletion mutation of the α-globin gene. Sanger sequencing is widely used to detect non-deletion mutations of α-thalassemia. Recently, next-generation sequencing was introduced in the diagnosis of both deletion and point mutations of α-thalassemia. Despite the advantages and disadvantages of different techniques, the routine method employed in the laboratory should be based on the facility, expertise, available equipment, and economic conditions.

Keywords: alpha chain, thalassemia, molecular techniques, deletion, non-deletion


Divashini Vijian, Wan Suriana Wan Ab Rahman, Kannan Thirumulu Ponnuraj, Zefarina Zulkafli, Noor Haslina Mohd Noor. Molecular Detection of alpha Thalassemia: A Review of Prevalent Techniques. Medeniyet Med J. 2021; 36(3): 257-269

Corresponding Author: Wan Suriana Wan Ab Rahman, Malaysia


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