Abstract
The 1.357 kb beta-globin gene deletion was identified in a Chinese family by multiplex ligation-dependent probe amplification (MLPA) followed by gap-polymerase chain reaction (gap-PCR) and sequencing. Interestingly, this form of the deletion was linked to a -(G)gamma-(AG)gamma-(A)gamma triplication. The proband, a compound heterozygote for this linked mutant gene and a beta-globin gene [-28 (A>G)] mutation, had a phenotype of beta-thalassemia intermedia (beta-TI). She was not transfusion dependent and had the following parameters: a Hb level of 5.3 g/dL, 72.8% Hb F and 55.1% (G)gamma chain in Hb F. Four members of the family, who were carriers of this linked mutant gene, had a hematological phenotype of beta(0)-thalassemia (beta(0)-thal) with high Hb F and low (G)gamma chain values. RNA analyses showed decreased levels of beta-globin mRNA and increased levels of gamma-globin mRNA in heterozygotes. Haplotype analyses indicated that the unusual form of the beta-globin gene deletion and gamma-globin gene triplication in cis were linked to halotype [+ - - - - - -].
References
Apr 1, 1992·Molecular and Cellular Biology·J A LloydJ B Lingrel
May 1, 1986·British Journal of Haematology·G D EfremovI Bakioglu
Apr 1, 1980·British Journal of Haematology·B P AlterT H Huisman
Sep 1, 1993·British Journal of Haematology·A J DimovskiG D Efremov
Jul 21, 1998·Annals of the New York Academy of Sciences·B G Forget
Sep 16, 1998·Human Genetics·X Q Zhang, J W Zhang
Mar 23, 1999·British Journal of Haematology·V ChanT K Chan
Sep 30, 2000·Blood Reviews·P J Ho, S L Thein
Aug 13, 2002·Journal of Korean Medical Science·Young-Joon LeeHan-Ik Cho
Jun 15, 1957·Klinische Wochenschrift·E KLEIHAUERK BETKE
Apr 29, 2004·Journal of Clinical Pathology·X M XuM Zhong
Feb 26, 2005·Experimental Hematology·George Stamatoyannopoulos
Aug 30, 2005·Journal of Clinical Pathology·Q-H MoX-M Xu
Apr 2, 2008·IUBMB Life·Laura Manca, Bruno Masala
Oct 22, 2008·Hemoglobin·Chien-Hao HuangTsang-Ming Ko
Dec 1, 2009·Journal of Clinical Pathology·C C SoL C Chan
Citations
Jul 17, 2015·International Journal of Laboratory Hematology·W-J CaiD-Z Li
Apr 5, 2019·International Journal of Laboratory Hematology·Fei ZhuXuan Shang
Oct 28, 2020·Scientific Reports·Siqi HuMingyong Luo