ArticleJournal of clinical laboratory analysis2026
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.
Article in Journal of clinical laboratory analysis, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundCongenital 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 (β
methodsA 7-year-old Chinese boy with cyanosis and recurrent neurological symptoms was evaluated using hemoglobin electrophoresis, HPLC, methemoglobin quantification, genetic sequencing, and brain imaging.
resultsGenetic analysis identified the HBB: c.320 T>A mutation, confirmed by Sanger sequencing. Hemoglobin electrophoresis revealed a false elevation of Hb F (52.3%) due to co-migration of Hb Tübingen with Hb F, which was validated by HPLC showing normal γ-globin levels. Methemoglobinemia was elevated to 34.4%, accompanied by hemolytic markers (elevated LDH). Brain imaging confirmed Moyamoya disease, a rare cerebrovascular disorder, suggesting potential hypoxia-driven vascular pathology. Family screening revealed autosomal dominant inheritance, with the mutation traced to the patient's mother and maternal relatives.
conclusionsThis 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.
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