IthaID: 4101

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Comments: The heterozygous tandem duplication region of approximately 165 kb was initially detected by lpWGS (Chr16: 109865–274556, GRch37/hg19). MLPA was performed to validate the novel CNV and a duplication across 28 probes targeting the α-globin gene cluster (16p13.3: 103540-196320) was confirmed. It includes the entire α-globin gene cluster and adjacent genes including NPRL3, HBZ, HBM, HBA2, HBA1, HBQ1 and LUC7L. The number of α globin genes is increased from four to six. The duplication was found together with a β0 allele HBB:c.52A>T [IthaID: 77], in a 6-year-old boy, with moderate anemia, and a β-thalassemia intermedia clinical diagnosis. His father was a heterozygous carrier for this duplication, with normal clinical phenotype, while his mother was heterozygous for HBB:c.52A>T and the common α0 allele –SEA [IthaID:309] presented with mild microcytosis and hypochromia.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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Heterozygous records (preview in IthaPhen)

1. He X, Tian P, Zhong L, Peng S, Chen S, Pan L, Du Y, Zhang R, A Novel 165 Kb Duplication Involving the α-Globin Gene Cluster Is Identified by Low-Pass Whole Genome Sequencing in a Chinese Thalassemia Intermedia Patient., Hemoglobin, 2024 PubMed