Öz
In this case report, discrepancies in HbA1c measurements were observed in a 54-year-old female patient with Type 2 diabetes due to the presence of a hemoglobin (Hb) variant, most likely HbJ. HbA1c levels were measured as 10.5% using capillary electrophoresis (CE), 8.92% using ion-exchange HPLC, and 10.4% using immunoassay. The lower HbA1c value obtained with the ion-exchange HPLC method suggested interference from the Hb variant (most likely HbJ detected in the Z13 region). Hb variants can lead to inaccurate HbA1c results, which may influence clinical decisions, particularly in diabetes management. This case highlights that capillary electrophoresis can be a reliable method even in the presence of Hb variants, but results from different methods should be interpreted with caution. Due to the patient’s poor glycemic control, the treatment plan was revised, and the patient was recommended for follow-up to monitor the clinical implications of the Hb variant. In conclusion, considering Hb variants in the interpretation of HbA1c results is critical to prevent misdiagnosis and inappropriate treatment.
Anahtar Kelimeler
Hb J high-performance liquid chromatography HbA1c capillary electrophoresis immunoassay
Kaynakça
- 1. Brunel V, Lahary A, Chagraoui A, Thuillez C. Haemoglobin J-Baltimore can be detected by HbA1c electropherogram but with underestimated HbA1c value. Biochem Med. 2016;26:240-2.
- 2. Deopa B, Chordiya K, Parakh M, Dara P. Rare association of hemoglobin variant Hb J (α mutation) with haemophilia A: case report. Int J Contemp Pediatr. 2017;4:2226.
- 3. Zhao Z, Basilio J, Hanson S, Little RR, Sumner AE, Sacks DB. Evaluation of hemoglobin A1c measurement by Capillarys 2 electrophoresis for detection of abnormal glucose tolerance in African immigrants to the United States. Clin Chim Acta. 2015;446:54-60.
- 4. Chen Z, Shao L, Jiang M, Ba X, Ma B, Zhou T. Interpretation of HbA1c lies at the intersection of analytical methodology, clinical biochemistry and hematology. Exp Ther Med. 2023;13:25:186.
- 5. Baglioni C, Weatherall DJ. Abnormal human hemoglobins. IX. Chemistry of haemoglobin J-Baltimore. Biochim Biophys Acta. 1963;78:637-43.
- 6. Gupta M, Thalquotra M, Rao P. P3 Fraction: Effect on HbA1c Values by HPLC. J Clin Diagn Res. 2016;10(9):BC12-14.
- 7. Little RR, Rohlfing CL, Wiedmeyer HM, Myers GL, Sacks DB, Goldstein DE. The national glycohemoglobin standardization program: a five-year progress report. Clin Chem. 2001;47:1985–92.
- 8. Hoelzel W, Weykamp C, Jeppsson JO, Miedema K, Barr JR, Goodall I, et al. IFCC reference system for measurement of hemoglobin A1c in human blood and the national standardization schemes in the United States, Japan, and Sweden: a method-comparison study. Clin Chem. 2004;50:166–74.
- 9. Barakat O, Krishnan ST, Dhatariya K. Falsely low HbA1c value due to a rare variant of hemoglobin J-Baltimore. Prim Care Diabetes. 2008;2(3):155-7.
- 10. Nanda S, Sharma SG, Bhatt SP, Pamula J, Arastu MI. Conundrum of elevated HbA1C and hypoglycemia-a rare cause. Am J Med Sci. 2008;335:382-6.
- 11. Blanco JA, Gutiérrez AB, Martín-Nieto A, González-Martínez S, Delgado-Álvarez E, Menéndez-Torre E. Effect of hemoglobin J variant on HbA1c values as measured by HPLC (high-performance liquid chromatography). Presented at Society for Endocrinology BES 2018, Barcelona, Spain. Endocr Abstr. 2018;56:PL321.
- 12. Song Y, Xu A, Wang M, Shi J, Fu W, Ji L, et al. Evaluation of effects from hemoglobin variants on HbA1c measurements by different methods. Clin Chem Lab Med. 2024;62: 2082-90.
Öz
Bu vaka raporunda, Tip 2 diyabetli 54 yaşında bir kadın hastada, büyük olasılıkla HbJ olan bir hemoglobin (Hb) varyantının varlığı nedeniyle HbA1c ölçümlerinde tutarsızlıklar gözlemlendi. HbA1c düzeyleri kapiler elektroforez (CE) kullanılarak %10,5, iyon değişimli HPLC kullanılarak %8,92 ve immünoassay kullanılarak %10,4 olarak ölçüldü. İyon değişimli HPLC yöntemi ile elde edilen daha düşük HbA1c değeri, Hb varyantından (büyük olasılıkla Z13 bölgesinde tespit edilen HbJ) kaynaklanan bir etkileşimi düşündürmektedir. Hb varyantları, özellikle diyabet yönetiminde klinik kararları etkileyebilecek yanlış HbA1c sonuçlarına yol açabilir. Bu vaka, kapiler elektroforezin Hb varyantlarının varlığında bile güvenilir bir yöntem olabileceğini, ancak farklı yöntemlerin sonuçlarının dikkatli bir şekilde yorumlanması gerektiğini vurgulamaktadır. Hastanın zayıf glisemik kontrolü nedeniyle tedavi planı revize edildi ve hastaya Hb varyantının klinik etkilerini izlemek için takip önerildi. Sonuç olarak, HbA1c sonuçlarının yorumlanmasında Hb varyantlarının dikkate alınması yanlış tanı ve uygunsuz tedaviyi önlemek için kritik öneme sahiptir.
Anahtar Kelimeler
Hb J yüksek performanslı sıvı kromatografisi HbA1c kapiler elektroforez immünoassay
Kaynakça
- 1. Brunel V, Lahary A, Chagraoui A, Thuillez C. Haemoglobin J-Baltimore can be detected by HbA1c electropherogram but with underestimated HbA1c value. Biochem Med. 2016;26:240-2.
- 2. Deopa B, Chordiya K, Parakh M, Dara P. Rare association of hemoglobin variant Hb J (α mutation) with haemophilia A: case report. Int J Contemp Pediatr. 2017;4:2226.
- 3. Zhao Z, Basilio J, Hanson S, Little RR, Sumner AE, Sacks DB. Evaluation of hemoglobin A1c measurement by Capillarys 2 electrophoresis for detection of abnormal glucose tolerance in African immigrants to the United States. Clin Chim Acta. 2015;446:54-60.
- 4. Chen Z, Shao L, Jiang M, Ba X, Ma B, Zhou T. Interpretation of HbA1c lies at the intersection of analytical methodology, clinical biochemistry and hematology. Exp Ther Med. 2023;13:25:186.
- 5. Baglioni C, Weatherall DJ. Abnormal human hemoglobins. IX. Chemistry of haemoglobin J-Baltimore. Biochim Biophys Acta. 1963;78:637-43.
- 6. Gupta M, Thalquotra M, Rao P. P3 Fraction: Effect on HbA1c Values by HPLC. J Clin Diagn Res. 2016;10(9):BC12-14.
- 7. Little RR, Rohlfing CL, Wiedmeyer HM, Myers GL, Sacks DB, Goldstein DE. The national glycohemoglobin standardization program: a five-year progress report. Clin Chem. 2001;47:1985–92.
- 8. Hoelzel W, Weykamp C, Jeppsson JO, Miedema K, Barr JR, Goodall I, et al. IFCC reference system for measurement of hemoglobin A1c in human blood and the national standardization schemes in the United States, Japan, and Sweden: a method-comparison study. Clin Chem. 2004;50:166–74.
- 9. Barakat O, Krishnan ST, Dhatariya K. Falsely low HbA1c value due to a rare variant of hemoglobin J-Baltimore. Prim Care Diabetes. 2008;2(3):155-7.
- 10. Nanda S, Sharma SG, Bhatt SP, Pamula J, Arastu MI. Conundrum of elevated HbA1C and hypoglycemia-a rare cause. Am J Med Sci. 2008;335:382-6.
- 11. Blanco JA, Gutiérrez AB, Martín-Nieto A, González-Martínez S, Delgado-Álvarez E, Menéndez-Torre E. Effect of hemoglobin J variant on HbA1c values as measured by HPLC (high-performance liquid chromatography). Presented at Society for Endocrinology BES 2018, Barcelona, Spain. Endocr Abstr. 2018;56:PL321.
- 12. Song Y, Xu A, Wang M, Shi J, Fu W, Ji L, et al. Evaluation of effects from hemoglobin variants on HbA1c measurements by different methods. Clin Chem Lab Med. 2024;62: 2082-90.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Konular | Endokrinoloji, Tıbbi Biyokimya - Karbonhidratlar |
| Bölüm | Olgu Sunumu |
| Yazarlar | |
| Gönderilme Tarihi | 16 Mayıs 2025 |
| Kabul Tarihi | 25 Temmuz 2025 |
| Yayımlanma Tarihi | 15 Aralık 2025 |
| DOI | https://doi.org/10.16919/bozoktip.1700588 |
| IZ | https://izlik.org/JA64CW77PJ |
| Yayımlandığı Sayı | Yıl 2025 Cilt: 15 Sayı: 4 |