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.

Abstract excerpt

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 characterized by increased autoxidation, heat instability, and cyanosis. METHODS: A 7-year-old Chinese boy with cyanosis and recurrent neurological symptoms was evaluated using hemoglobin...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child
• Share to East Asian People