Summary
Larger deletions are a rare cause of β-thalassemia. We report a further instance of a deletion comprising about 300 bp in a female heterozygote. Exon 1, part of IVS-1 and the 5′ β-globin gene promoter region are lost.
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Aulchla-Scholz, C., Spiegelberg, R. & Horst, J. A β-thalassemia mutant caused by a 300-bp deletion in the human β-globin gene. Hum Genet 81, 298–299 (1989). https://doi.org/10.1007/BF00279010
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DOI: https://doi.org/10.1007/BF00279010