John S. Waye, Meredith Hanna, Betty-Ann Hohenadel, Lisa Nakamura, Lynda Walker, Barry Eng, Landry E. Nfonsam
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Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (HBB:c.336dup)
Newborn screening identified a Chinese-Canadian infant who was positive for possible β-thalassemia (β-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for th...
期刊介绍:
Hemoglobin is a journal in the English language for the communication of research and information concerning hemoglobin in humans and other species. Hemoglobin publishes articles, reviews, points of view
The journal covers topics such as:
structure, function, genetics and evolution of hemoglobins
biochemical and biophysical properties of hemoglobin molecules
characterization of hemoglobin disorders (variants and thalassemias),
consequences and treatment of hemoglobin disorders
epidemiology and prevention of hemoglobin disorders (neo-natal and adult screening)
modulating factors
methodology used for diagnosis of hemoglobin disorders