Molecular genetics & genomic medicine · 2026
A Novel Alpha1-Variant (HBA1:c.-35T>C) Complexed With the First Reported Hb M-Saskatoon in the Chinese Population.
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Yang Yujing, Zhao Yunhu, Luan Luan, Li Guanghua, Deng Qianyun, Ge Yanfen
Аннотация
BACKGROUND: Hemoglobinopathies are genetic disorders characterized by structural or quantitative hemoglobin abnormalities. We report the first documented case globally of a novel alpha1 (α1)-variant (HBA1:c.-35T>C) co-occurring with Hb M-Saskatoon (HBB:c.190C>T), the latter being identified for the first time in the Chinese population.
METHODS: Peripheral blood samples were obtained from a 3-year-old Chinese girl presenting with persistent cyanosis, including complete blood count, hemoglobin electrophoresis, and degenerative globin body testing. Hemoglobin variants detected were subsequently characterized through DNA sequencing.
RESULTS: The research subject was diagnosed with different types of abnormal Hb. Hematological analysis revealed normocytic normochromic erythrocytes with mild anemia (Hb 111 g/L, reference 112-149 g/L). Electrophoretic analysis detected abnormal hemoglobin fractions: abnormal Hb bands in zone I and s in the E zone near the position of Hb A2. Targeted sequencing demonstrated compound heterozygosity for α1-variant (HBA1:c.-35T>C) with Hb M-Saskatoon (HBB:c.190C>T).
CONCLUSION: We confirmed Hb M-Saskatoon (HBB:c.190C>T) co-occurring with a globally unreported α1-variant (HBA1:c.-35T>C) in a Chinese proband. This dual variant expands the global hemoglobinopathy registry and provides critical insights for diagnosing atypical cases, particularly in populations with understudied genetic diversity. This finding elucidates novel genotype-phenotype correlations in complex hemoglobinopathies and underscores the imperative of genetic testing for atypical presentations.
METHODS: Peripheral blood samples were obtained from a 3-year-old Chinese girl presenting with persistent cyanosis, including complete blood count, hemoglobin electrophoresis, and degenerative globin body testing. Hemoglobin variants detected were subsequently characterized through DNA sequencing.
RESULTS: The research subject was diagnosed with different types of abnormal Hb. Hematological analysis revealed normocytic normochromic erythrocytes with mild anemia (Hb 111 g/L, reference 112-149 g/L). Electrophoretic analysis detected abnormal hemoglobin fractions: abnormal Hb bands in zone I and s in the E zone near the position of Hb A2. Targeted sequencing demonstrated compound heterozygosity for α1-variant (HBA1:c.-35T>C) with Hb M-Saskatoon (HBB:c.190C>T).
CONCLUSION: We confirmed Hb M-Saskatoon (HBB:c.190C>T) co-occurring with a globally unreported α1-variant (HBA1:c.-35T>C) in a Chinese proband. This dual variant expands the global hemoglobinopathy registry and provides critical insights for diagnosing atypical cases, particularly in populations with understudied genetic diversity. This finding elucidates novel genotype-phenotype correlations in complex hemoglobinopathies and underscores the imperative of genetic testing for atypical presentations.