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Nondeletional α-Thalassemia: Two New Mutations on the α2 Gene

Paloma Ropero1,2, Jaime Arbeteta3, Jorge M Nieto1,2

  • 1Servicio de Hematología, Hospital Clínico San Carlos de Madrid, Madrid, Spain.

Hemoglobin
|February 1, 2020
PubMed
Summary

Two novel frameshift mutations in the HBA2 gene, associated with nondeletional alpha-thalassemia, were identified. These mutations alter protein structure and may contribute to severe thalassemia phenotypes.

Keywords:
HBA2 genenondeletionalα-Thalassemias

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