Korean J Hematol.  2009 Sep;44(3):153-156. 10.5045/kjh.2009.44.3.153.

A Case of beta Thalassemia Intermedia Due to Hemoglobin Cagliari (beta 60 Val - >Glu)

• Park ES
• Han HY
• Lim JY
• Park SS
• Kim SY

• KMID: 2252134
• DOI: http://doi.org/10.5045/kjh.2009.44.3.153

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.

Keyword

Thalassemia; Parvovirus B19; Immunoglobulins; Intravenous

MeSH Terms

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
Hemoglobins
Immunoglobulins
beta-Globins

Figure

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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.

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  Fig. 2. Skull AP & LAT show widening of diploic space and thinning of the outer table with preserved inner table but no radial striation.

Reference

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