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
X ShangXiangmin Xu

Abstract

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.

References

Mar 1, 1992·British Journal of Haematology·S L Thein
Jun 1, 1995·European Journal of Obstetrics, Gynecology, and Reproductive Biology·D LolisG Makrydimas
Jun 26, 2002·European Journal of Human Genetics : EJHG·Samia Zertal-ZidaniRajagopal Krishnamoorthy
Jun 7, 2003·Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Médicas E Biológicas·E M KimuraM F Sonati
Jun 11, 2005·European Journal of Haematology·Sanmay BandyopadhyayUma B Dasgupta

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Citations

Dec 20, 2014·Hemoglobin·Rakesh KumarPurnima Kishor
Apr 5, 2019·International Journal of Laboratory Hematology·Fei ZhuXuan Shang

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