ArticleFrontiers in genetics2025
The rare hemoglobin variants Hb O-Arab and Hb D-Punjab identified in population-based genetic screening throughout Guangxi, China.
Article in Frontiers in genetics, 2025. 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
Background: Hemoglobinopathies are a group of autosomal recessive disorders characterized by a high degree of clinical and genetic heterogeneity. Comprehensive genetic screening for hemoglobin variants is crucial for prevention and treatment of these conditions. Single-molecule real-time (SMRT) sequencing enables efficient and reliable analysis of common and complex or rare hemoglobin variants. Methods: We launched a population-based genetic screening program for hemoglobinopathies in Guangxi, China, using SMRT. The Results: A total of 11,019 participants throughout Guangxi were recruited via the screening program. In two unrelated families, the variants, Hb O-Arab and Hb D-Punjab at the same genetic locus, were identified with an extremely low frequency of 0.0045% [1/(11,019*2), respectively] in the population. Structural prediction showed Hb O-Arab exerted a relatively significant impact on the hemoglobin structure, whereas the influence of Hb D-Punjab was minimal. This was consistent with findings from the literature review and the two recruited families, which confirmed that individuals with Hb O-Arab presented relatively obvious manifestations compared to those with Hb D-Punjab. Conclusion: Two rare variants, Hb O-Arab and Hb D-Punjab, were identified in Guangxi, China using SMRT. The first report of Hb O-Arab enriches the spectrum of hemoglobin variants in the Chinese population. Analyzing the frequency, origin and genotype-phenotype correlation of these variants could pave the way for clinical management and genetic counseling for hemoglobinopathies.
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