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Hb Adana (HBA2 or HBA1: c.179G > A) and alpha...
Journal article

Hb Adana (HBA2 or HBA1: c.179G > A) and alpha thalassemia: Genotype–phenotype correlation

Abstract

Alpha thalassemia due to nondeletional mutations usually leads to more severe disease than that caused by deletional mutations. Devastating outcomes such as hydrops fetalis can occur with two nondeletional mutations, therefore warranting DNA-based workup for suspected carriers with subtle hematological abnormalities for family counseling purposes. We describe three cases with hemoglobin (Hb) Adana, a nondeletional alpha chain mutation, …

Authors

Singh SA; Sarangi S; Appiah‐Kubi A; Hsu P; Smith WB; Gallagher PG; Glader B; Chui DHK

Journal

Pediatric Blood & Cancer, Vol. 65, No. 9,

Publisher

Wiley

Publication Date

9 2018

DOI

10.1002/pbc.27220

ISSN

1545-5009