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Compound heterozygosity for a rare small deletion and a common point mutation in the beta-globin gene: report of two Chinese families

Compound heterozygosity for a rare small deletion and a common point mutation in the beta-globin gene: report of two Chinese families

International Journal of Laboratory Hematology 33(1): 79-84

Most cases of β-thalassemia are caused by point mutations in the β-globin gene. Only a minority of β-thalassemia mutations are small deletions in the exons of the β-globin gene. Here, we report two cases of β-thalassemia that were caused by compound heterozygosity for a rare small deletion and a common point mutation. Patient A carried a rare 14-bp deletion (CD89-93) mutation plus the common mutation -28(A>G). Patient B carried a rare 13-bp deletion (CD54-58) plus the common mutation IVS-2-654(C>T). Patient B is the second report of the CD54-58(-13 bp) deletion. However, our report differs from the previous report in two ways: we performed a family study based on multiple samples; and the carriers and patient showed an elevated level of HbF, which was not observed in the previous case.

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Accession: 052269081

Download citation: RISBibTeXText

PMID: 20649908

DOI: 10.1111/j.1751-553x.2010.01253.x

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