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The First Iranian Case of Unstable Hemoglobin Santa Ana.

Hemoglobin - 1 Mar 2024

Alavi Samin, Mohammadimoghaddam Soha, Najmabadi Hossein, Maghsoudlou Sina

Abstract excerpt

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...

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PMID: 38500334
DOI: 10.1080/03630269.2024.2330554

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