ArticleHuman genetics2026
Profiling structural variations of the α-globin gene cluster by the single molecule real-time sequencing: remarkable diversity of the spectrum with rare and novel variants identified in a large Chinese cohort.
Article in Human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors.
Funding
Abstract
α-thalassemia is an inherited monogenic disorder that exhibits a notably high prevalence in the Guangxi region of China. Subjects in this study were recruited from the Second Affiliated Hospital of Guangxi Medical University between October 2021 and December 2024. Hematological phenotypes were evaluated, followed by structural variations profiling using SMRT sequencing. Novel structural variants were validated using multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing, while hematological phenotypic analysis was performed on the corresponding pedigrees. In this cohort of 1,430 subjects, 381 subjects (26.64%, 381/1430) exhibited structural variations in the α-globin gene cluster. Of the 381 subjects with α-globin structural variants, 355 were heterozygotes, 23 were compound heterozygotes, and 3 were homozygotes, collectively accounting for 407 alleles. SMRT analysis identified fourteen distinct structural variants, with the --SEA deletion representing the predominant variant at a frequency of 60.44% (246/407), followed by the -α3.7 (23.34%, 95/407) and -α4.2 (10.07%, 41/407) deletions. Furthermore, eleven rare variants were detected at an aggregate frequency of 6.14% (25/407), including --THAI, -α2.4, -α21.9, --11.1, HKαα, --120 (chr16:85493–205576 del), --35.2 (chr16:150825–186025 del), αααanti3.7, αααanti4.2, αααα3.7, and (αα)Fusion. Notably, two novel α0-thalassemia deletions (--120 and --35.2) associated with microcytic hypochromic anemia were identified, representing previously unreported rare deletions. The structural variation of the α-globin gene cluster is remarkably diverse. The novel variants identified in this study expand the variant spectrum in thalassemia. These findings provide support for thalassemia genetic counseling, diagnosis, and disease management. SMRT sequencing demonstrates superior capability in variant detection and significant potential for clinical diagnostic applications.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.