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HbA2 :c.96-2A > G mutation: report of 7 cases in China.

Authors :
Yu XH
Ge YY
Ma XM
Zeng GK
Liao YW
Liu LL
Cao YB
Liang JL
Lai BR
Zeng YQ
Huang YC
Yang LY
Source :
Hematology (Amsterdam, Netherlands) [Hematology] 2024 Dec; Vol. 29 (1), pp. 2426829. Date of Electronic Publication: 2024 Nov 12.
Publication Year :
2024

Abstract

Objective: To analyze the hematological phenotype and genotype of HbA2 : c.96-2A > G carriers.<br />Methods: The blood routine parameters and hemoglobin electrophoresis of rare cases were analyzed and identified by PCR combined with reverse dot blot (RBD-PCR), GAP-PCR and DNA sequencing.<br />Results: Among the 7 patients, one adult patient had normal hemoglobin levels, with slightly decreased mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH). Hb Bart's band was found in 6 neonates by hemoglobin electrophoresis, of which the content of Hb Bart's band in 1 neonate was 15.80%, and the content of Hb Bart's band in the other 5 neonates was 0.30%-0.90%. The results of genetic analysis showed that all the 7 patients had HbA2 : c.96-2A > G (IVS-I-116A > G) mutation, in which 1 case was compounded with - <superscript>SEA</superscript> deletion.<br />Conclusion: HbA2 : c.96-2A > G mutation carriers exhibit the phenotype of α-thalassemia, and when the HbA2 :c.96-2A > G mutation is combined with - <superscript>SEA</superscript> deletion, an intermediate phenotype of anemia is produced.

Details

Language :
English
ISSN :
1607-8454
Volume :
29
Issue :
1
Database :
MEDLINE
Journal :
Hematology (Amsterdam, Netherlands)
Publication Type :
Academic Journal
Accession number :
39530711
Full Text :
https://doi.org/10.1080/16078454.2024.2426829