Eun Sil Park; Hye Young Han; Jae Young Lim; Sung Sup Park; Sun Young Kim

doi:10.5045/kjh.2009.44.3.153

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Park, Han, Lim, Park, and Kim: A Case of β Thalassemia Intermedia Due to Hemoglobin Cagliari (β 60 Val#x2192;Glu)

Case Report

Korean J Hematol 2009;44(3):153-156.

Published online: 20 September 2009

DOI: https://doi.org/10.5045/kjh.2009.44.3.153

A Case of β Thalassemia Intermedia Due to Hemoglobin Cagliari (β 60 Val#x2192;Glu)

Eun Sil Park, M.D.¹, Hye Young Han, M.D.², Jae Young Lim, M.D., Ph.D.¹, Sung Sup Park, M.D., Ph.D.³, Sun Young Kim, M.D., Ph.D.^2,

¹Department of Pediatrics, Gyeongsang National University, School of Medicine, Jinju, Korea

²Chungnam National University, College of Medicine, Daejeon, Korea

³Department of Laboratory Medicine, Seoul National University, School of Medicine, Seoul, Korea

Correspondence to：Sun Young Kim, M.D., Ph.D. Department of Pediatrics, Chungnam National University Hospital 33, Munhwa-ro, Jung-gu, Daejeon 301-721, Korea Tel: ＋82-42-280-7252, Fax: ＋82-42-255-3158 E-mail: sunyoung@cnuh.co.kr

Received 23 January 2009 Revised 20 August 2009 Accepted 20 August 2009

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

β Thalassemia is a very rare disease in Korea. Only14 mutations have been reported in South Korea to date. This is the first case of β thalassemia intermedia due to hemoglobin Cagliari in Korea. The locus of this missense mutation is exon 3 of β globin (β60 Val→Glu). This is considered a de novo mutation of dominantly inherited β 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 β-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.

Keywords: Thalassemia, Parvovirus B19, Immunoglobulins, Intravenous

References

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Fig. 1.

Direct DNA sequencing analyses of the β globin gene revealed a mutation, c.182T>A (β60[E4]VAL→GLU), identified in the exon 3. This heterozygote produced unstable globin structure.

Fig. 2.

Skull AP & LAT show widening of diploic space and thinning of the outer table with preserved inner table but no radial striation.

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