Ann Lab Med.  2013 Sep;33(5):386-389. 10.3343/alm.2013.33.5.386.

Spectrin Tunis (Sp alpha I/78) in a Korean Family with Hereditary Elliptocytosis

• Han E
• Kim A
• Park J
• Kim M
• Kim Y
• Han K
• Kim YJ

• KMID: 1781350
• DOI: http://doi.org/10.3343/alm.2013.33.5.386

Abstract

No abstract available.

MeSH Terms

Adult
Anemia/diagnosis
Asian Continental Ancestry Group/*genetics
Base Sequence
Bone Marrow Cells/cytology/pathology
Elliptocytosis, Hereditary/*diagnosis/*genetics/pathology
Female
Heterozygote
Humans
Infant, Newborn
Mutation, Missense
Republic of Korea
Spectrin/chemistry/*genetics
Splenomegaly/ultrasonography
Spectrin

Figure

• 

  Fig. 1 (A) Marked anisopoikilocytosis, including elliptocytosis, schistocytes, and teardrop cells, on a peripheral blood smear. (B) Bone marrow aspirates showing hypercellularity and erythroid hyperplasia (Wright-Giemsa Stain, ×1,000).

• 

  Fig. 2 DNA sequence analysis of the SPTA1 gene. The patient and her baby carried a heterozygous missense mutation in exon 2 (c.121C>T; p.Arg41Trp) in the alpha 1 domain. Protein changes are indicated by red lettering.

Reference

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