Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c

ABSTRACT Background The current investigation aims to analyze the occurrence of thalassemia in patients who participated in hemoglobin A1c (HbA1c) testing in clinical laboratory showing high hemoglobin F (HbF) level (≥ 1.5%) or abnormal Hb peak and predict the main influence factors by using differe...

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Veröffentlicht in:Journal of clinical laboratory analysis 2024-10, Vol.38 (19-20), p.e25104-n/a
Hauptverfasser: Wan, Yafang, Zhang, Yu, Li, Tian, Chen, Shuyue, Niu, Changchun
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Zhang, Yu
Li, Tian
Chen, Shuyue
Niu, Changchun
description ABSTRACT Background The current investigation aims to analyze the occurrence of thalassemia in patients who participated in hemoglobin A1c (HbA1c) testing in clinical laboratory showing high hemoglobin F (HbF) level (≥ 1.5%) or abnormal Hb peak and predict the main influence factors by using different statistical models. Methods The current investigation is a single‐center retrospective cohort study. HbA1c concentration was detected by using TOSOH HLC‐723G8 glycated hemoglobin analyzer. SNaPshot SNP (Single Nucleotide Polymorphism) typing and AccuCopy technology were employed to detect mutations in thalassemia‐related pathogenic genes. Results A total of 126 patients endured high HbF levels or abnormal Hb peak during HbA1c detection, and 66.7% of subjects (n = 84) showed thalassemia mutations. Three heterozygosity mutations, including c.52A>T (p.K18*), c.‐78A>G, and c.126_129delCTTT(p.F42Lfs*19) present in HBB gene, were also identified. ‐‐SEA/αα mutation demonstrated the youngest ages (p 
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Methods The current investigation is a single‐center retrospective cohort study. HbA1c concentration was detected by using TOSOH HLC‐723G8 glycated hemoglobin analyzer. SNaPshot SNP (Single Nucleotide Polymorphism) typing and AccuCopy technology were employed to detect mutations in thalassemia‐related pathogenic genes. Results A total of 126 patients endured high HbF levels or abnormal Hb peak during HbA1c detection, and 66.7% of subjects (n = 84) showed thalassemia mutations. Three heterozygosity mutations, including c.52A>T (p.K18*), c.‐78A>G, and c.126_129delCTTT(p.F42Lfs*19) present in HBB gene, were also identified. ‐‐SEA/αα mutation demonstrated the youngest ages (p < 0.001). 17 M (p < 0.001) and 41/42 M (p < 0.01) mutations with β‐thalassemia showed higher HbF levels compared with patients without thalassemia mutations. Except for ‐α3.7, mutations in thalassemia showed lower levels of mean corpuscular hemoglobin (MCH) and mean corpuscular volume (MCV) compared with patients without thalassemia mutations. Patients with thalassemia mutations showed younger age (p < 0.001), lower Hb (p < 0.001), MCV and MCH levels (p < 0.001), higher red blood cell (RBC) count (p < 0.001), and platelet distribution width (PDW) level (p = 0.007) than patients without thalassemia mutations. Three statistical models indicate MCV is the most valuable independent factor for predicting thalassemia and ROC (receiver operating characteristic) curves analysis of AUC (Area Under the Curve) of 0.855 (95% CI [0.787–0.923], p < 0.001) with MCV. Conclusion High HbF level (≥ 1.5%) or abnormal Hb peak present in HbA1c testing indicated high incident rate of thalassemia. MCV is the most valuable independent predicting factor for subjects having thalassemia. Patients participated in hemoglobin A1c (HbA1c) testing in clinical laboratory showing high hemoglobin F (HbF) levels (≥ 1.5%) or abnormal Hb peak got mutations and showed younger age, lower Hb, MCV and MCH levels, higher RBC count, and PDW than patients without thalassemia mutations. The independent factor MCV demonstrated the most valuable diagnosis factor whether in three statistical models or in ROC curve analysis.]]></description><identifier>ISSN: 0887-8013</identifier><identifier>ISSN: 1098-2825</identifier><identifier>EISSN: 1098-2825</identifier><identifier>DOI: 10.1002/jcla.25104</identifier><identifier>PMID: 39317177</identifier><language>eng</language><publisher>United States: John Wiley &amp; Sons, Inc</publisher><subject>Anemia ; Anticoagulants ; Blood ; Blood diseases ; Chromatography ; Data analysis ; Erythrocytes ; Gene polymorphism ; Genes ; glycated hemoglobin ; HBB gene ; Hematology ; Hemoglobin ; hemoglobin F ; Heterozygosity ; Medical laboratories ; Mutation ; Phenotypes ; Regression analysis ; Single-nucleotide polymorphism ; Software ; Statistical models ; Thalassemia</subject><ispartof>Journal of clinical laboratory analysis, 2024-10, Vol.38 (19-20), p.e25104-n/a</ispartof><rights>2024 The Author(s). published by Wiley Periodicals LLC.</rights><rights>2024 The Author(s). Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.</rights><rights>2024. This work is published under http://creativecommons.org/licenses/by-nc-nd/4.0/ (the "License"). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c3384-8ed2637ffb7037edb933c2c2367920627a18cc4202395f7196cb33af2d5c0af03</cites><orcidid>0000-0001-7786-1341</orcidid></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520934/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC11520934/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,1411,11541,27901,27902,45550,45551,46027,46451,53766,53768</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39317177$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Wan, Yafang</creatorcontrib><creatorcontrib>Zhang, Yu</creatorcontrib><creatorcontrib>Li, Tian</creatorcontrib><creatorcontrib>Chen, Shuyue</creatorcontrib><creatorcontrib>Niu, Changchun</creatorcontrib><title>Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c</title><title>Journal of clinical laboratory analysis</title><addtitle>J Clin Lab Anal</addtitle><description><![CDATA[ABSTRACT Background The current investigation aims to analyze the occurrence of thalassemia in patients who participated in hemoglobin A1c (HbA1c) testing in clinical laboratory showing high hemoglobin F (HbF) level (≥ 1.5%) or abnormal Hb peak and predict the main influence factors by using different statistical models. Methods The current investigation is a single‐center retrospective cohort study. HbA1c concentration was detected by using TOSOH HLC‐723G8 glycated hemoglobin analyzer. SNaPshot SNP (Single Nucleotide Polymorphism) typing and AccuCopy technology were employed to detect mutations in thalassemia‐related pathogenic genes. Results A total of 126 patients endured high HbF levels or abnormal Hb peak during HbA1c detection, and 66.7% of subjects (n = 84) showed thalassemia mutations. Three heterozygosity mutations, including c.52A>T (p.K18*), c.‐78A>G, and c.126_129delCTTT(p.F42Lfs*19) present in HBB gene, were also identified. ‐‐SEA/αα mutation demonstrated the youngest ages (p < 0.001). 17 M (p < 0.001) and 41/42 M (p < 0.01) mutations with β‐thalassemia showed higher HbF levels compared with patients without thalassemia mutations. Except for ‐α3.7, mutations in thalassemia showed lower levels of mean corpuscular hemoglobin (MCH) and mean corpuscular volume (MCV) compared with patients without thalassemia mutations. Patients with thalassemia mutations showed younger age (p < 0.001), lower Hb (p < 0.001), MCV and MCH levels (p < 0.001), higher red blood cell (RBC) count (p < 0.001), and platelet distribution width (PDW) level (p = 0.007) than patients without thalassemia mutations. Three statistical models indicate MCV is the most valuable independent factor for predicting thalassemia and ROC (receiver operating characteristic) curves analysis of AUC (Area Under the Curve) of 0.855 (95% CI [0.787–0.923], p < 0.001) with MCV. Conclusion High HbF level (≥ 1.5%) or abnormal Hb peak present in HbA1c testing indicated high incident rate of thalassemia. MCV is the most valuable independent predicting factor for subjects having thalassemia. Patients participated in hemoglobin A1c (HbA1c) testing in clinical laboratory showing high hemoglobin F (HbF) levels (≥ 1.5%) or abnormal Hb peak got mutations and showed younger age, lower Hb, MCV and MCH levels, higher RBC count, and PDW than patients without thalassemia mutations. 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Methods The current investigation is a single‐center retrospective cohort study. HbA1c concentration was detected by using TOSOH HLC‐723G8 glycated hemoglobin analyzer. SNaPshot SNP (Single Nucleotide Polymorphism) typing and AccuCopy technology were employed to detect mutations in thalassemia‐related pathogenic genes. Results A total of 126 patients endured high HbF levels or abnormal Hb peak during HbA1c detection, and 66.7% of subjects (n = 84) showed thalassemia mutations. Three heterozygosity mutations, including c.52A>T (p.K18*), c.‐78A>G, and c.126_129delCTTT(p.F42Lfs*19) present in HBB gene, were also identified. ‐‐SEA/αα mutation demonstrated the youngest ages (p < 0.001). 17 M (p < 0.001) and 41/42 M (p < 0.01) mutations with β‐thalassemia showed higher HbF levels compared with patients without thalassemia mutations. Except for ‐α3.7, mutations in thalassemia showed lower levels of mean corpuscular hemoglobin (MCH) and mean corpuscular volume (MCV) compared with patients without thalassemia mutations. Patients with thalassemia mutations showed younger age (p < 0.001), lower Hb (p < 0.001), MCV and MCH levels (p < 0.001), higher red blood cell (RBC) count (p < 0.001), and platelet distribution width (PDW) level (p = 0.007) than patients without thalassemia mutations. Three statistical models indicate MCV is the most valuable independent factor for predicting thalassemia and ROC (receiver operating characteristic) curves analysis of AUC (Area Under the Curve) of 0.855 (95% CI [0.787–0.923], p < 0.001) with MCV. Conclusion High HbF level (≥ 1.5%) or abnormal Hb peak present in HbA1c testing indicated high incident rate of thalassemia. MCV is the most valuable independent predicting factor for subjects having thalassemia. Patients participated in hemoglobin A1c (HbA1c) testing in clinical laboratory showing high hemoglobin F (HbF) levels (≥ 1.5%) or abnormal Hb peak got mutations and showed younger age, lower Hb, MCV and MCH levels, higher RBC count, and PDW than patients without thalassemia mutations. The independent factor MCV demonstrated the most valuable diagnosis factor whether in three statistical models or in ROC curve analysis.]]></abstract><cop>United States</cop><pub>John Wiley &amp; Sons, Inc</pub><pmid>39317177</pmid><doi>10.1002/jcla.25104</doi><tpages>8</tpages><orcidid>https://orcid.org/0000-0001-7786-1341</orcidid><oa>free_for_read</oa></addata></record>
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subjects Anemia
Anticoagulants
Blood
Blood diseases
Chromatography
Data analysis
Erythrocytes
Gene polymorphism
Genes
glycated hemoglobin
HBB gene
Hematology
Hemoglobin
hemoglobin F
Heterozygosity
Medical laboratories
Mutation
Phenotypes
Regression analysis
Single-nucleotide polymorphism
Software
Statistical models
Thalassemia
title Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c
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