The First Iranian Case of Unstable Hemoglobin Santa Ana

Abstract

In this report, we describe a 6-year-old girl with a medical history of pallor, mild icterus, anemia, blood transfusion and abnormal hemoglobin variant analysis on capillary electrophoresis. She was referred for further analysis. DNA sequencing of the proband revealed a de novo mutation in Codon 88 (CTG > CCG) of the β-globin gene (HBB: c.266T > C) in a heterozygous state compatible with hemoglobin Santa Ana, an unstable hemoglobin. This is the first case of Hb Santa Ana from Iran associated with moderate to severe anemia who underwent splenectomy with clinical improvement.

Keywords:

• Unstable hemoglobin
• Hb Santa Ana
• hemolytic anemia
• splenectomy
• capillary electrophoresis
• DNA sequence

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.