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

This study underscores the diagnostic challenges of Hb Tübingen, particularly its mimicry of Hb F, necessitating further molecular diagnostic approaches. The association with Moyamoya disease highlights unexplored interactions between chronic hypoxia and cerebrovascular remodeling. Our findings expand the genetic epidemiology of Hb Tübingen and emphasize integrated hematological and neurological evaluations in unexplained cyanosis.