Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.
Georgina MartinRuna M GrimholtDoan LeAnne G BechensteenOlav KlingenbergBente FjeldThomas FourieRenee PerrierMelanie ProvenShirley J HendersonNoémi B A RoyPublished in: Hemoglobin (2021)
We describe two unrelated patients, both heterozygous for an unstable hemoglobin (Hb) variant named Hb Calgary (HBB: c.194G>T) that causes severe hemolytic anemia and dyserythorpoietic, resulting in transfusion dependence and iron overload. The molecular pathogenesis is a missense variation on the β-globin gene, presumed to lead to an unstable Hb. The phenotype of Hb Calgary is particularly severe presenting as transfusion-dependent anemia in early infancy, precluding phenotypic diagnosis and highlighting the importance of early genetic testing in order to make an accurate diagnosis.
Keyphrases
- chronic kidney disease
- end stage renal disease
- early onset
- iron deficiency
- cardiac surgery
- sickle cell disease
- newly diagnosed
- ejection fraction
- prognostic factors
- gene expression
- intellectual disability
- genome wide
- high resolution
- drug induced
- acute kidney injury
- dna methylation
- transcription factor
- mass spectrometry
- genome wide identification