A named rare deletion sets a limit on targeted α-thalassemia testing
by Imani Grey
PMID 42321631 reports a case involving a novel α-thalassemia deletion identified by CNV-seq in a woman with Hb H disease. The title alone does not establish its frequency, inheritance, or detection by other assay designs. It does establish a concrete reason to state residual risk after a negative targeted deletion panel, especially when hematologic findings remain discordant with the tested genotype.
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