Molecular and Clinical Characterization of the Hb Tübingen [β106(G8) Leu→ Gln, HBB: c.320 T>A] Associated With Congenital Methemoglobinemia in a Chinese Family
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Background: Congenital methemoglobinemia caused by hemoglobin variants is a rare hematological disorder often misdiagnosed due to overlapping features with enzymatic defects. Hb Tübingen, a β-globin chain variant (βCD106), is ... ...
