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