A Case of beta Thalassemia Intermedia Due to Hemoglobin Cagliari (beta 60 Val - >Glu).
10.5045/kjh.2009.44.3.153
- Author:
Eun Sil PARK
1
;
Hye Young HAN
;
Jae Young LIM
;
Sung Sup PARK
;
Sun Young KIM
Author Information
1. Department of Pediatrics, Gyeongsang National University, School of Medicine, Jinju, Korea.
- Publication Type:Case Report
- Keywords:
Thalassemia;
Parvovirus B19;
Immunoglobulins;
Intravenous
- MeSH:
Anemia, Hypochromic;
beta-Globins;
beta-Thalassemia;
Exons;
Follow-Up Studies;
Hemoglobins;
Humans;
Immunoglobulins;
Jaundice;
Korea;
Mutation, Missense;
Parvovirus;
Rare Diseases;
Republic of Korea;
Splenomegaly;
Thalassemia
- From:Korean Journal of Hematology
2009;44(3):153-156
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Beta Thalassemia is a very rare disease in Korea. Only14 mutations have been reported in South Korea to date. This is the first case of beta thalassemia intermedia due to hemoglobin Cagliari in Korea. The locus of this missense mutation is exon 3 of beta globin (beta60 Val->Glu). This is considered a de novo mutation of dominantly inherited beta 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 beta-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.
