A Case of Heterozygous alpha(+)-Thalassemia Diagnosed in a Korean Family by Using Multiplex Ligation-Dependent Probe Amplification.
- Author:
Ae Chin OH
1
;
Jin Kyung LEE
;
Young Jun HONG
;
Seok Il HONG
;
Sung Hyun YANG
;
Chang Hun PARK
;
Hee Jin KIM
;
Heui Seung JO
;
Yoon Hwan CHANG
Author Information
1. Department of Laboratory Medicine, Korea Cancer Center Hospital, Korea Institute of Radiological & Medical Sciences, Seoul, Korea. cyhlabo@kcch.re.kr
- Publication Type:Case Report
- Keywords:
Alpha-thalassemia;
Multiplex ligation-dependent probe amplification (MLPA);
Hemoglobinopathies
- MeSH:
alpha-Globins;
alpha-Thalassemia;
Anemia, Hypochromic;
Electrophoresis;
Fathers;
Female;
Gene Deletion;
Hemoglobin A, Glycosylated;
Hemoglobinopathies;
Humans;
Mediterranean Region;
Multiplex Polymerase Chain Reaction;
Sequence Analysis, DNA;
Siblings
- From:Journal of Laboratory Medicine and Quality Assurance
2012;34(2):113-117
- CountryRepublic of Korea
- Language:English
-
Abstract:
Alpha-thalassemia (alpha-thalassemia), which is prevalent in the Mediterranean region, is caused by deficient synthesis of the alpha-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 alpha+-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 alpha+-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.
