Identification of a rare compound heterozygous hemoglobin variant ß0-thal [ß17(A14) Lys>Stop, HBB: c.52A>T] and Hb J-Lome [ß59(E3) Lys>Asn, HBB: c.180G>C].
Hematology
; 27(1): 946-950, 2022 Dec.
Article
in En
| MEDLINE
| ID: mdl-36004523
ABSTRACT
BACKGROUND:
HbA1c is the validated biomarker for glycemic management in diabetic individuals. Here, we report a compound heterozygote for ß0-thal and Hb J-Lomeand evaluate its effect on HbA1c measurements.METHODS:
A 51-year-old female was suspected of harboring a hemoglobin variant following no value of HbA1c levelby Arkray HA-8180â V (48s HbA1c mode), abnormal hematological data, and abnormalhemoglobin analysison capillary electrophoresis (Capillarys 2 Flex Piercing, Hb program). Sanger sequencing of the α and ß genes was subsequently performed on the proband.HbA1c was reanalyzed using D10 (Bio-Rad), Capillarys 2 Flex Piercing (Sebia), and Roche Cobas c501 (Roche Diagnostics).RESULTS:
Sanger sequencing identified a compound heterozygote for ß0-thal [ß17(A14) Lys > Stop, HBB c.52A > T] and Hb J-Lome [ß59(E3) Lys > Asn, HBB c.180G > C].HbA1c values â£â£determinedby D10, Capillarys 2 Flex Piercing (HbA1c program), and Roche Cobas c501were 2.3%, no HbA1c value, and 5.1 (32â mmol/mol), respectively. During pedigree analysis, the son of the proband was found to have normal blood glucose (5.55â mmol/L), decreased HbA1c (3.6%, 16â mmol/mol)by Arkray HA-8180â V (48s HbA1c mode), an abnormal band on the electrophoretogram of Capillarys2 (Hb program), and the Hb J-Lome mutation in the ß globin gene.Subsequently, HbA1c values â£â£determinedby D10, Capillarys 2 Flex Piercing (HbA1c program), and Roche Cobas c501 were4.0% (20â mmol/mol), no HbA1c value, and 5.0 (31â mmol/mol), respectively.CONCLUSION:
Atypically low HbA1c levels or a discrepancy between blood glucose and HbA1c levels should raise concerns about hemoglobin variations.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Blood Glucose
/
Hemoglobins, Abnormal
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Female
/
Humans
/
Middle aged
Language:
En
Journal:
Hematology
Journal subject:
HEMATOLOGIA
Year:
2022
Document type:
Article