Korean J Hematol 2009; 44(3):
Published online September 30, 2009
https://doi.org/10.5045/kjh.2009.44.3.153
© The Korean Society of Hematology
박은실 한혜영 임재영 박성섭 김선영
경상대학교 의과대학 소아과학교실,
충남대학교 의과대학 소아과학교실,
서울대학교 의과대학 진단검사의학교실
Ղ Thalassemia is a very rare disease in Korea. Only14 mutations have been reported in South Korea to date. This is the first case of Ղ thalassemia intermedia due to hemoglobin Cagliari in Korea. The locus of this missense mutation is exon 3 of Ղ globin (Ղ60 Val→Glu). This is considered a de novo mutation of dominantly inherited Ղ thalassemia in patients previously having no family history of this conditions. The patient showed microcytic hypochromic anemia, jaundice, and splenomegaly, which were typical characteristics of Ղ-thalassemia intermedia. During follow-up, there was an episode of aplastic crisis due to Parvovirus B19 infection treated with intravenous immunoglobulin. We report this case with the related literature. (Korean J Hematol 2009;44:153-156.)
Keywords Thalassemia, Parvovirus B19, Immunoglobulins, Intravenous
Korean J Hematol 2009; 44(3): 153-156
Published online September 30, 2009 https://doi.org/10.5045/kjh.2009.44.3.153
Copyright © The Korean Society of Hematology.
박은실 한혜영 임재영 박성섭 김선영
경상대학교 의과대학 소아과학교실,
충남대학교 의과대학 소아과학교실,
서울대학교 의과대학 진단검사의학교실
Eun Sil Park, Hye Young Han, Jae Young Lim, Sung Sup Park, Sun Young Kim
Department of Pediatrics, Gyeongsang National University, School of Medicine, Jinju
Chungnam National University, College of Medicine, Daejeon
Department of
Laboratory Medicine, Seoul National University, School of Medicine, Seoul, Korea
Ղ Thalassemia is a very rare disease in Korea. Only14 mutations have been reported in South Korea to date. This is the first case of Ղ thalassemia intermedia due to hemoglobin Cagliari in Korea. The locus of this missense mutation is exon 3 of Ղ globin (Ղ60 Val→Glu). This is considered a de novo mutation of dominantly inherited Ղ thalassemia in patients previously having no family history of this conditions. The patient showed microcytic hypochromic anemia, jaundice, and splenomegaly, which were typical characteristics of Ղ-thalassemia intermedia. During follow-up, there was an episode of aplastic crisis due to Parvovirus B19 infection treated with intravenous immunoglobulin. We report this case with the related literature. (Korean J Hematol 2009;44:153-156.)
Keywords: Thalassemia, Parvovirus B19, Immunoglobulins, Intravenous
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