A significant proportion of children of African descent with HbSβ⁰ thalassaemia are inaccurately diagnosed based on phenotypic analyses alone

Br J Haematol. 2019 Apr;185(1):153-156. doi: 10.1111/bjh.15400. Epub 2018 May 24.

Authors

Melissa E Day¹, Mark Rodeghier², Jennifer Driggers³, Christopher J Bean³, Emmanuel J Volanakis¹, Michael R DeBaun¹

Affiliations

¹ Vanderbilt-Meharry Center of Excellence in Sickle Cell Disease, Vanderbilt University Medical Center, Nashville, TN, USA.
² Rodeghier Consultants, Chicago, IL, USA.
³ Division of Blood Disorders, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, GA, USA.

PMID: 29797315
DOI: 10.1111/bjh.15400

No abstract available

Keywords: alpha-thalassaemia; diagnosis; sickle cell anaemia; sickle cell disease.

Publication types

Letter

MeSH terms

Africa / ethnology
Anemia, Sickle Cell / diagnosis*
Anemia, Sickle Cell / ethnology
Anemia, Sickle Cell / genetics
Child
Diagnostic Errors*
False Positive Reactions
Heterozygote
Humans
Phenotype
Sequence Deletion
Sickle Cell Trait / diagnosis
Sickle Cell Trait / ethnology
Sickle Cell Trait / genetics
alpha-Globins / genetics
beta-Thalassemia / diagnosis*
beta-Thalassemia / ethnology
beta-Thalassemia / genetics

Substances

alpha-Globins