The genotype and phenotype analysis in 3 cases with the rare genotype of HBB:c.316-146T > G

Autor:	Yan-Bin Cao, Yi-Yuan Ge, Long-Xu Xie, Guang-Kuan Zeng, Bai-Ru Lai, Xiao-Hua Yu, Jian-Lian Liang, Li-Ye Yang
Jazyk:	angličtina
Rok vydání:	2024
Předmět:	Β-thalassemia HBB:c.316-146T > G IVS-II-705(T > G) rare mutation clinical feature Diseases of the blood and blood-forming organs RC633-647.5
Zdroj:	Hematology, Vol 29, Iss 1 (2024)
Druh dokumentu:	article
ISSN:	16078454 1607-8454
DOI:	10.1080/16078454.2024.2433188
Popis:	Objectives To explore the genotypic and phenotypic characteristics of HBB: c.316-146T > G carriers in China.Methods The blood routine parameters and hemoglobin electrophoresis data of carriers were analyzed using PCR combined with reverse dot blot (RDB), gap-PCR, and DNA sequencing.Results The blood routine parameters of all these three cases were MCV G, the other one was heterozygous mutation of HBB:c.316-146T > G combined with –SEA deletion.Conclusion The hematological phenotype of HBB:c.316-146T > G mutation carriers is similar to that of common β+ heterozygous mutations, presenting with hypochromic, microcytic red cell indices. If the hematological phenotype does not match the results of genetic testing, further detection techniques such as Sanger sequencing, MLPA, next-generation sequencing (NGS), etc. are required to avoid missing rare or novel mutation types.
Databáze:	Directory of Open Access Journals
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