A Novel β-Globin Variant, Hb Raklev [β 75(E19) HBB:c.227T> A (Leu→Gln)]

Article Genetics & Heredity

Adapting the ACMG/AMP variant classification framework: A perspective from the ClinGen Hemoglobinopathy Variant Curation Expert Panel

Petros Kountouris et al.

Summary: This article discusses the experience of the ClinGen Variant Curation Expert Panel in adapting ACMG/AMP criteria for classifying variants in three globin genes related to recessively inherited hemoglobinopathies, using five evidence categories as examples to demonstrate the process of specification and rationale underlying the classification.

HUMAN MUTATION (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Hb Kalundborg [β79(EF3)Asp→Glu; HBB: c.240C>a], a Possible Low-affinity Hemoglobin Variant Detected during Hb A1c Measurement

Emil B. Ahmad-Nielsen et al.

Summary: A novel hemoglobin variant, named Hb Kalundborg, was discovered to interfere with the measurement of glycosylated hemoglobin, potentially causing falsely high concentrations and clinical implications.

HEMOGLOBIN (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Clinically relevant updates of the HbVar database of human hemoglobin variants and thalassemia mutations

Belinda Giardine et al.

Summary: HbVar is a widely used locus-specific database that provides information on genomic variants related to hemoglobin variants and thalassemia. The database has been updated with clinically relevant information, improved querying options, user-friendly interface, and expanded data content for increased utility in clinical settings.

NUCLEIC ACIDS RESEARCH (2021)

Add to Collection

Article Physiology