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The genotype and phenotype analysis in 3 cases with the rare genotype of HBB:c.316-146T > G.
- Source :
-
Hematology (Amsterdam, Netherlands) [Hematology] 2024 Dec; Vol. 29 (1), pp. 2433188. Date of Electronic Publication: 2024 Nov 25. - Publication Year :
- 2024
-
Abstract
- Objectives: To explore the genotypic and phenotypic characteristics of HBB : c.316-146T > G carriers in China.<br />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.<br />Results: The blood routine parameters of all these three cases were MCV < 82fl and MCH < 27pg, and hemoglobin electrophoresis showed HbA <subscript>2</subscript> ≥ 4.60%. Genetic testing results: two cases were heterozygous mutations of HBB :c.316-146T > G, the other one was heterozygous mutation of HBB :c.316-146T > G combined with - <superscript>SEA</superscript> deletion.<br />Conclusion: The hematological phenotype of HBB :c.316-146T > G mutation carriers is similar to that of common β <superscript>+</superscript> 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.
Details
- Language :
- English
- ISSN :
- 1607-8454
- Volume :
- 29
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Hematology (Amsterdam, Netherlands)
- Publication Type :
- Academic Journal
- Accession number :
- 39585810
- Full Text :
- https://doi.org/10.1080/16078454.2024.2433188