Article
Medical Laboratory Technology
Shinsuke Inoue, Shiho Tsuruda, Arisa Tsuruta, Mariko Kishikawa, Kota Yamazaki, Kazuo Ibaraki, Yasuhiro Yamashiro, Masafumi Koga
Summary: This is a case report of a male patient in his thirties who presented to our hospital for a secondary examination after a high HbA1c level was found in a 2020 medical check-up. Multiple tests revealed a novel d-chain hemoglobin variant in the patient, named "Hb A2-Karatsu".
CLINICA CHIMICA ACTA
(2022)
Article
Medical Laboratory Technology
Ying-Ying Li, Hong-Jian Xie, Ling Yang, Jia Mai
Summary: This article reports a case of a Chinese pregnant woman with inconsistent HbA1c and glucose measurement results. Gene sequencing identified a rare mutation that caused falsely low HbA1c. The study suggests that hemoglobin variants may affect the accuracy of HbA1c measurement.
CLINICAL LABORATORY
(2023)
Article
Medicine, General & Internal
Xue Ao, Nagapratap Ganta, Suhrim Choe, Prachi Patel, James Turro, Pramil Cheriyath
Summary: Hemoglobin A1c (HbA1c) can be unreliable in certain conditions, and it is important for clinicians to be aware of these underlying causes. This case report highlights a falsely elevated HbA1c due to a rare variant of hemoglobin called hemoglobin Wayne.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Article
Medical Laboratory Technology
Stephanie Badiou, Anne-Marie Dupuy, Severine Cunat, Agnes Delay, Stephanie Alcaraz, Patricia Aguilar-Martinez, Jean -Paul Cristol, Florence Galtier
Summary: This report highlights the interference of Hb G-Copenhagen on HbA1c testing depending on the analyzer used. It serves as a reminder that an Hb variant can cause a discordance between HbA1c and glycemia.
CLINICA CHIMICA ACTA
(2022)
Review
Hematology
Linet Njue, Cesare Medri, Peter Keller, Miriam Diepold, Behrouz Mansouri Taleghani, Alicia Rovo
Summary: Hb Mizuho is a rare unstable hemoglobin that often causes severe hemolytic anemia requiring transfusions. Research suggests that splenectomy may lead to complete resolution of transfusion dependence in patients, while iron overload is mainly attributed to transfusions. Diagnosis can be challenging, but molecular techniques play a crucial role in accurate diagnosis.
ANNALS OF HEMATOLOGY
(2021)
Article
Multidisciplinary Sciences
Ankia Coetzee, David Hall, Mari van de Vyver, Magda Conradie
Summary: South African women of childbearing age are disproportionately affected by obesity and at significant risk of Type 2 diabetes mellitus (T2DM). Unless pregnant, they do not readily undergo screening for T2DM. Glucose evaluation using HbA1c is essential for early detection and management of women with T2DM.
Article
Obstetrics & Gynecology
Ayamo Oben, Victoria Jauk, Ashley Battarbee, Sherri Longo, Jeff Szychowski, Alan Tita, Lorie Harper
Summary: The study aimed to assess the association of hemoglobin A1c (HbA1c) with adverse perinatal outcomes in obese women with gestational diabetes mellitus. Results showed that a single HbA1c measurement was not significantly associated with adverse perinatal outcomes, but an increase or stability of HbA1c between 14 to 20 weeks and 24 to 28 weeks was linked to an increased risk of preterm delivery.
AMERICAN JOURNAL OF PERINATOLOGY
(2022)
Article
Hematology
Zixin Chen, Limei Shao, Mingfeng Jiang, Run Ma, Hongfen Ping, Zuo Wang, Xuejiao Ba, Bingjie Ma, Tao Zhou
Summary: This study reports a compound heterozygote for β(0)-thal and Hb J-Lome and evaluates its effect on HbA1c measurements. The results suggest that abnormal hemoglobin variations can cause abnormally low HbA1c levels or a discrepancy between blood glucose and HbA1c levels.
Article
Cardiac & Cardiovascular Systems
Stelios Karayiannides, Catarina Djupsjo, Jeanette Kuhl, Claes Hofman-Bang, Anna Norhammar, Martin J. Holzmann, Pia Lundman
Summary: In this study, it was found that around two thirds of AMI patients without a history of diabetes had disturbed glucose metabolism. The presence of prediabetes range HbA1c added predictive value for long-term outcomes, while OGTT was not predictive for combined events.
CARDIOVASCULAR DIABETOLOGY
(2021)
Article
Endocrinology & Metabolism
Junmei Wang, Li Zhang, Yu Bai, Xinli Wang, Weilin Wang, Jing Li, Saijun Zhou
Summary: This study aimed to investigate the influence of RBC lifespan variation on HbA1c values in T2DM patients. The findings showed that eHbA1c was significantly higher in patients with an RBC lifespan <90 days, and the proportion of eHbA1c >= 7% was also significantly higher in this group.
JOURNAL OF DIABETES
(2023)
Article
Endocrinology & Metabolism
Kei Yoshino, Yushi Hirota, Wataru Ogawa, Kenji Sugawara, Akira Kawaguchi, Hiroshi Yoshino, Midori Ishibashi, Gen Yoshino, Masafumi Koga
Summary: Variant hemoglobin, specifically Hb Chad, was identified in a case involving differences in HbA1c values. Sequencing analysis revealed a mutation in the alpha 2-globin gene, leading to discrepancies in HbA1c measurements by immunoassay and high-performance liquid chromatography (HPLC). This case emphasizes the importance of considering other glucose-related parameters when HbA1c abnormalities are suspected.
DIABETOLOGY INTERNATIONAL
(2022)
Article
Endocrinology & Metabolism
Wei Gao, Yanwen Jin, Minjin Wang, Yan Huang, Huairong Tang
Summary: This case report highlights the impact of rare beta-thalassemia on HbA1c values and chromatograms detected by HPLC. It emphasizes the importance of differential diagnosis in interpreting HbA1c results, especially in the presence of hemoglobinopathy.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Medical Laboratory Technology
Jordyn A. Moore, Bobby Li, Darrell Wang, Becca Chan, Richard I. King, Chris M. Florkowski
Summary: This study describes a novel beta-globin variant that interferes with HbA1c measurement by cation exchange HPLC. Discordant HbA1c results were obtained, with elevated HbA1c measured by cation exchange HPLC and a normal level by immunoassay. The presence of Hb Westport, a missense variant, was confirmed. Alternative methods for diabetes assessment should be considered in subjects with Hb Westport.
CLINICAL BIOCHEMISTRY
(2022)
Article
Biochemistry & Molecular Biology
Luigi Donato, Ebtesam Mohamed Abdalla, Concetta Scimone, Simona Alibrandi, Carmela Rinaldi, Karim Mahmoud Nabil, Rosalia D'Angelo, Antonina Sidoti
Summary: The study identified three missense variants in the PRPH2 gene and two promoter variants in the RHO and RLBP1 genes in two brothers with RPA. Haplotype analysis revealed a rare PRPH2 haplotype variant that may affect PRPH2 binding with outer segment proteins, leading to photoreceptor outer segment instability. Additionally, altered transcription factor binding sites due to RHO and RLBP1 promoter variants could result in downregulation of both genes and potentially affect the shared visual-related pathway involving PRPH2.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Endocrinology & Metabolism
Michael P. Mackley, Ari Morgenthau, Manal Elnenaei, Heather MacKenzie
Summary: Hemoglobin variants can affect the accuracy of HbA(1c) measurement in diabetes patients, and clinicians need to be aware of their potential impact.
JOURNAL OF THE ENDOCRINE SOCIETY
(2022)
