The Unexpected Detection of a Novel Mutation in a Patient with Hb G-Taipei During Glycated Hemoglobin Test.
Clin Lab
; 69(5)2023 May 01.
Article
in En
| MEDLINE
| ID: mdl-37145078
ABSTRACT
BACKGROUND:
There are occasional unexpected detections in HbA1c tests. Here, we described a novel ß-globin gene mutation and its hematological phenotype.METHODS:
The proband is a 60-year-old woman who was admitted to the hospital for two weeks due to chest pain. Complete blood count, fasting blood glucose, and glycated hemoglobin tests were performed before admission. High-performance liquid chromatography (HPLC) and capillary electrophoresis (CE) were used to detect HbA1c. The hemoglobin variant was verified by Sanger sequencing.RESULTS:
An abnormal peak was observed on HPLC and CE, but the value of HbA1c was normal. Sanger sequencing revealed a GAA>GGA mutation at codon 22 (corresponding to Hb G-Taipei) and a deletion (-GCAATA) at position 659_664 of the second intron of the ß-globin gene. The proband and her son, who inherited this new mutation, have no hematological phenotype changes.CONCLUSIONS:
This is the first report of this mutation, named IVS II-659_664 (-GCAATA). It has a normal phenotype and does not cause thalassemia. IVS II-659_664 (-GCAATA) compounded Hb G-Taipei did not affect the detection of HbA1c.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hemoglobins, Abnormal
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
Language:
En
Journal:
Clin Lab
Journal subject:
TECNICAS E PROCEDIMENTOS DE LABORATORIO
Year:
2023
Document type:
Article