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

Publication Date

2018

Journal Title

Pediatr Blood Cancer

Abstract

© 2018 Wiley Periodicals, Inc. 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, compounded with an alpha globin gene deletion resulting in thalassemia intermedia. We review the literature, draw genotype–phenotype correlations from published cases of Hb Adana, and propose that this correlation can be used by clinicians to help direct diagnostic studies and urge hematologists to thoroughly workup high-risk patients.

Volume Number

65

Issue Number

9

Pages

e27220

Document Type

Article

Status

Faculty

Facility

School of Medicine

Primary Department

Pathology and Laboratory Medicine

PMID

29749692

DOI

10.1002/pbc.27220

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