Article
Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.
Hemoglobin - 1 Jul 2021
Martin Georgina, Grimholt Runa M, Le Doan, Bechensteen Anne G, Klingenberg Olav, Fjeld Bente, Fourie Thomas, Perrier Renee, Proven Melanie, Henderson Shirley J, Roy Noémi B A
Abstract excerpt
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...
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