Article
Molecular Characterization and Hematological Aspects of Hb E-Myanmar [β26(B8)Glu→Lys and β65(E9)Lys→Asn, HBB: c.[79G>A;198G>C]): A Novel β-Thalassemic Hemoglobin Variant.
Hemoglobin - 1 Nov 2020
Satthakarn Surada, Boonmee Sasis, Panyasai Sitthichai
Abstract excerpt
Hb E [β26(B8)Glu→Lys, GAG>AAG, HBB: c.79G>A] is an inherited thalassemic β-globin variant that favors the Hb E-β-thalassemia (β-thal) syndrome when interacting with the β-thal gene. However, hemoglobin (Hb) variants carrying Hb E in combination with another variant on the same β gene are rare. We recently studied a 29-year-old pregnant woman, initially diagnosed as a β-thal carrier. Hemoglobin and DNA analysis...
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