Blood Res.  2019 Mar;54(1):17-22. 10.5045/br.2019.54.1.17.

Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology

• Lee YK
• Kim HJ
• Lee K
• Park SH
• Song SH
• Seong MW
• Kim M
• Han JY

• KMID: 2451051
• DOI: http://doi.org/10.5045/br.2019.54.1.17

Abstract

Genetic hemoglobin disorders are caused by mutations and/or deletions in the α-globin or β-globin genes. Thalassemia is caused by quantitative defects and hemoglobinopathies by structural defect of hemoglobin. The incidence of thalassemia and hemoglobinopathy is increased in Korea with rapid influx of people from endemic areas. Thus, the awareness of the disease is needed. α-thalassemias are caused by deletions in α-globin gene, while β-thalassemias are associated with decreased synthesis of β-globin due to β-globin gene mutations. Hemoglobinopathies involve structural defects in hemoglobin due to altered amino acid sequence in the α- or β-globin chains. When the patient is suspected with thalassemia/hemoglobinopathy from abnormal complete blood count findings and/or family history, the next step is detecting hemoglobin abnormality using electrophoresis methods including high performance liquid chromatography and mass spectrometry. The development of novel molecular genetic technologies, such as massively parallel sequencing, facilitates a more precise molecular diagnosis of thalassemia/hemoglobinopathy. Moreover, prenatal diagnosis using genetic testing enables the prevention of thalassemia birth and pregnancy complications. We aimed to review the spectrum and classification of thalassemia/hemoglobinopathy diseases and the diagnostic strategies including screening tests, molecular genetic tests, and prenatal diagnosis.

Keyword

Thalassemia; Hemoglobinopathies; Anemia; Diagnosis; Genetic testing

MeSH Terms

Amino Acid Sequence
Anemia
Blood Cell Count
Chromatography, Liquid
Classification
Clinical Laboratory Techniques*
Diagnosis
Electrophoresis
Erythrocytes*
Genetic Testing
Hematology*
Hemoglobinopathies*
High-Throughput Nucleotide Sequencing
Humans
Incidence
Korea
Mass Screening
Mass Spectrometry
Molecular Biology
Parturition
Pregnancy Complications
Prenatal Diagnosis
Thalassemia*

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