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KMID : 0985420120340020113
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Laboratory Medicine and Quality Assurance
2012 Volume.34 No. 2 p.113 ~ p.117
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A Case of Heterozygous α+-Thalassemia Diagnosed in a Korean Family by Using Multiplex Ligation-Dependent Probe Amplification
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Oh Ae-Chin
Lee Jin-Kyung
Hong Young-Joon
Hong Seok-Il
Yang Sung-Hyun
Park Chang-Hun
Kim Hee-Jin
Jo Heui-Seung
Chang Yoon-Hwan
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Abstract
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Alpha-thalassemia (α-thalassemia), which is prevalent in the Mediterranean region, is caused by deficient synthesis of the α-globin chains. It is commonly caused by HBA1 and/or HBA2 gene deletion and is diagnosed by DNA sequence analysis. The proband was a 38-year-old woman who was found to have microcytic and hypochromic anemia on a routine health checkup. Results of the Hb electrophoresis (EP) and direct sequencing of the HBA1 and HBA2 genes were found to be normal. As multiplex ligation-dependent probe amplification (MLPA) for the HBA1 and HBA2 genes revealed heterozygous deletion, she was diagnosed with heterozygous �� +-thalassemia. Although routine laboratory tests revealed similar findings in the proband’s father, brother and niece, MLPA revealed heterozygous deletions of the HBA1 or HBA2 gene in her brother and niece. In summary, we report a case of heterozygous ��+-thalassemia in a Korean family that was detected by MLPA. We recommend that patients with suspected hemoglobinopathies should be followed-up further with MLPA, especially when Hb EP shows a normal pattern.
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KEYWORD
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Alpha-thalassemia, Multiplex ligation-dependent probe amplification (MLPA), Hemoglobinopathies
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