Prevalence of Rare Hemoglobin Variants Identified During Measurements of Hb A1c by Capillary Electrophoresis

Strickland, Sydney Webb; Campbell, Sean T.; Little, Randie R.; Bruns, David E.; Bazydlo, Lindsay A.L.

doi:10.1373/clinchem.2017.276857

Cited by 8 publications

(3 citation statements)

References 5 publications

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“…Our findings confirm that the prevalence of clinically silent Hb-variants may be higher than expected so far [10]. HbA 1c is defined as the fraction of HbA carrying a covalently bound glucose molecule to the N-terminal valine of the β-chains.…”

supporting

confidence: 88%

Hemoglobin variants found in relation to HbA_1c testing: high occurrence of Hb Athens-Georgia in the Northern Jutland, Denmark

Nybo

Hansen

Petersen

et al. 2018

Clinical Chemistry and Laboratory Medicine (CCLM)

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supporting

confidence: 88%

Hemoglobin variants found in relation to HbA_1c testing: high occurrence of Hb Athens-Georgia in the Northern Jutland, Denmark

Nybo

Hansen

Petersen

et al. 2018

Clinical Chemistry and Laboratory Medicine (CCLM)

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“…It has been reported that a substantial number of clinically silent hemoglobinopathies are incidentally detected during HbA 1c measurement. 17 This is because HbA 1c testing employs HPLC or CE techniques, which are similar to those used in Hb analysis. In the present study, we have documented 36 HBD gene mutations while measuring HbA 1c through CE method.…”

Section: Discussionmentioning

confidence: 99%

“…It is noteworthy that a significant proportion of thalassemia minor carriers remain asymptomatic and may not be suspected of carrying hemoglobinopathies, which results in a low likelihood of detection. It has been reported that a substantial number of clinically silent hemoglobinopathies are incidentally detected during HbA 1c measurement 17 . This is because HbA 1c testing employs HPLC or CE techniques, which are similar to those used in Hb analysis.…”

Section: Discussionmentioning

confidence: 99%

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants

Xu,

Li,

et al. 2023

Int J Lab Hematology

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IntroductionMutations in the hemoglobin subunit delta (HBD) gene (MIM#142000) are associated with decreased levels of the Hemoglobin A2 (Hb A2) fraction. We aimed to examine the prevalence of HBD gene mutations and summarize their characteristics in the Chinese population.MethodsIndividuals who exhibited Hb A2 levels below 1.8%, with or without Hb A2 variant peaks, were chosen for further investigation. Hemoglobin analysis was conducted using capillary electrophoresis. Common α and β‐thalassemia in China were detected using gap‐PCR and reverse dot blot hybridization. The presence of HBD gene mutations was confirmed by DNA sequencing.ResultsA total of 188 patients were identified as carriers of the HBD gene mutation, with a prevalence of approximately 0.46%. We discovered 36 types of mutations, 30 of which resulted in δ‐globin variants, while the remaining 6 resulted in δ‐thalassemia. The most common mutation was HBD:c.‐127 T > C, accounting for 87.2% of δ‐thalassemia cases. In addition, we identified 11 novel HBD gene mutations and found 10 cases compounded with other common thalassemias.ConclusionWe observed a high prevalence of HBD gene mutations in southern China. Our findings provide a genetic basis for screening for δ‐thalassemia and enrich the spectrum of HBD gene mutations.

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Can HPLC be used as an ideal methodology instead of Hb Electrophoresis for the diagnosis of hemoglobinopathies in a routine clinical laboratory of under-resource country like Nepal? Is the change necessary?

Bhusal

Bhandari²,

Sah³

2022

Annals of Medicine &Amp; Surgery

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Prevalence of Rare Hemoglobin Variants Identified During Measurements of Hb A1c by Capillary Electrophoresis

Cited by 8 publications

References 5 publications

Hemoglobin variants found in relation to HbA_1c testing: high occurrence of Hb Athens-Georgia in the Northern Jutland, Denmark

Hemoglobin variants found in relation to HbA_1c testing: high occurrence of Hb Athens-Georgia in the Northern Jutland, Denmark

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants

Can HPLC be used as an ideal methodology instead of Hb Electrophoresis for the diagnosis of hemoglobinopathies in a routine clinical laboratory of under-resource country like Nepal? Is the change necessary?

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Prevalence of Rare Hemoglobin Variants Identified During Measurements of Hb A1c by Capillary Electrophoresis

Cited by 8 publications

References 5 publications

Hemoglobin variants found in relation to HbA1c testing: high occurrence of Hb Athens-Georgia in the Northern Jutland, Denmark

Hemoglobin variants found in relation to HbA1c testing: high occurrence of Hb Athens-Georgia in the Northern Jutland, Denmark

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants

Can HPLC be used as an ideal methodology instead of Hb Electrophoresis for the diagnosis of hemoglobinopathies in a routine clinical laboratory of under-resource country like Nepal? Is the change necessary?

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Hemoglobin variants found in relation to HbA_1c testing: high occurrence of Hb Athens-Georgia in the Northern Jutland, Denmark

Hemoglobin variants found in relation to HbA_1c testing: high occurrence of Hb Athens-Georgia in the Northern Jutland, Denmark