J Clin Pathol Qual Control.
2001 Dec;23(2):273-276.
Two Family Cases of the beta-Thalassemic Mutation, Codons 41/42-TTCT, Found in Koreans
- Affiliations
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- 1Department of Clinical Pathology, Seoul National University College of Medicine, Korea.
- 2Seoul National University Hospital Clinical Research Institute, Seoul, Korea. sparkle@plaza.snu.ac.kr
- 3National Cancer Center, Ilsan, Koyang, Korea.
- 4Department of Clinical Pathology, University of Sungkyunkwan College of Medicine, Samsung Medical Center, Seoul, Korea.
Abstract
- The mutation spectrum of-thalassemia in Koreans is characteristic of the low prevalent area, and it is quite different from endemic areas. However, some mutations may be originated from the endemic areas, such as south China. We found two family cases with-thalassemia due to the deletion of TTCT at codons 41 and 42 of the-globin gene, that is one of the most common mutations in south China and Thailand. Two probands presented normal levels of hemoglobin and marked microcytosis with moderate anisopoikilocytosis. The-thalassemic alleles of proband A and B were linked to the-haplotype [+---- ++]/FW1 and [+---- -+]/FW3A, respectively. These haplotypes are also predominant ones in south China and the Southeast Asia, which suggests that this mutation was influenced by the genetic flow from south China.
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