1 Department of Hematology, Zigong First People's Hospital, Zigong, China.
2 Department of Hematology, The 923rd Hospital of the Joint Logistics Support Force of the People's Liberation Army, Nanning, China.
3 Department of Genetic and Metabolic Laboratory, Guangxi Zhuang Autonomous Region Women and Children Health Care Hospital, Nanning, China.
4 Department of Hematology, Guangan People's Hospital, Guangan, China
5 Department of Laboratory Medicine, The 923rd Hospital of the Joint Logistics Support Force of the People's Liberation Army, Nanning, China.
* These authors contributed equally to this work.
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Background: IVS-II-5 G>C (HBB: c.315+5 G>C)
is a rare β-thalassemia mutation. However, there is no clear evidence
regarding the effect of this defect or co-inheritance of other
β-thalassemia mutations on phenotypes.
Subjects and Methods
|Table 1. Hematological indices, molecular, and clinical findings in the patients with IVS-II-5 G>C and other β-thalassemia mutations.|
|Table 2. Hematological indices and molecular findings in the patients with heterozygous IVS-II-5 G>C mutation.|
|Figure 1. Comparisons of Hb, HbA2, HbF, MCV, MCH, and MCHC levels between IVS-II-654 C>T (n=20), -28 A>G (n=21), and IVS-II-5 G>C (n=19) carriers. Data are presented as mean ± standard deviation (SD). Reference range values are shown as a dotted line. Asterisks indicate statistically significant differences: *P < 0.05, **P < 0.01, ***P < 0.001.|