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Biochimica Clinica: VOL.42 N.4

Scarica intero fascicolo
Appropriatezza degli esami di screening oncologici: il caso del antigene prostatico specifico

Al congresso di “Whatchamacallit”, il moderatore terminò la presentazione e Tom Dick, professore ordinario di tutte le chirurgie possibili e immaginabili nella più blasonata università europea salì sul podio. Con forza espositiva senza pari e con una chiarezza di termini da rendere semplice anche il più complicato e astruso degli argomenti al più inetto degli esseri umani spiegò, in poche e taglienti diapositive, come il 70% degli interventi che tutti i chirurghi fanno quotidianamente in ogni regione e ospedale d’Italia, d’Europa, per non dire del mondo, fossero inutili; mostrò quanti esami istologici e autoptici gridavano all’umanità l’inappropriatezza degli interventi condotti e delle scelte operative, e quante cistifellee, tonsille, linfonodi, appendici, noduli avrebbero potuto rimanere al loro posto senza alcun nocumento al paziente, anzi, e con grande risparmio di risorse per il sistema sanitario. 

TAG: EBM   PSA   Appropriateness  
Biochimica Clinica 2018; 42(4) 281-282
DOI: 10.19186/BC_2018.052
Pubblicato online il: 14.09.2018
Editoriale - Editorial
 
Il documento dell’Organizzazione Mondiale della Sanità sulla diagnostica in vitro: una riflessione critica è necessaria

Nello scorso mese di maggio, l’Organizzazione Mondiale della Sanità (OMS) ha reso disponibile un documento denominato “Model List of Essential in Vitro Diagnostics” che costituisce un catalogo degli esami di laboratorio che dovrebbero essere universalmente disponibili per la diagnosi e la cura delle più comuni condizioni cliniche. La pubblicazione di questo documento deve senza dubbio essere salutata come un importante contributo al processo che impegna i governi alla costruzione del repertorio degli esami di laboratorio di base (essenziali), che dovrebbero essere disponibili in ogni tipologia di servizio sanitario e affianca il “WHO Model List of Essential Medicines” che è il corrispondente catalogo dedicato ai farmaci. Il documento ha il pregio di riconoscere alla diagnostica di laboratorio un ruolo essenziale per le tre priorità strategiche del WHO: migliorare la copertura sanitaria universale, affrontare le emergenze sanitare e promuovere popolazioni più sane. Una attenta lettura del documento rivela tuttavia alcune criticità che ci sembra necessario portare alla attenzione dei laboratoristi Italiani, dopo essere stato oggetto di riflessioni analoghe a livello internazionale.

TAG: WHO; Clinical Laboratory Services; Standard  
Biochimica Clinica 2018; 42(4) 283-284
DOI: 10.19186/BC_2018.064
Pubblicato online il: 02.10.2018
Editoriale - Editorial
 
Il ruolo di tecniche di sequenziamento genico ad elevata produttività per la diagnosi molecolare dei tumori ereditari della mammella
Role of next generation sequencing technologies for the molecular diagnosis of hereditary breast cancers.

Breast cancer (BC) is still the most common tumor in women worldwide. Up to 20-25% of all BCs are of hereditaryfamilial nature and can be related to germline predisposing-mutations of which the most relevant are present in the high penetrance-genes BRCA1 and BRCA2. These mutations escalate the lifetime risk of BCs and also of other cancers. Thus, their early identification in tumor-prone family members is important to improve the clinical management of patients and their families. In addition, despite their high penetrance, only a small fraction of patients carry BRCA1 or BRCA2 mutations. This suggests that familial BCs may be related to germline mutations in other high-, moderate- and low-penetrance cancer genes. Consequently, the request for laboratory methods able to detect cancer-related pathogenic mutations in a short time and with high accuracy and sensitivity is raised. Recent technological advances in next generation sequencing (NGS) methods development are showing their potential also in this field. Indeed, NGS-based approaches are now currently used for BRCA genes analysis superseding conventional approaches. Moreover, the possibility to simultaneously sequence a panel of target genes is effective to further investigate patients with a personal and/or family history suggestive for an inherited BCs but with no mutations after BRCA molecular test. Implementation of this second-level molecular screening in routine diagnostic workflow will increase the diagnostic sensitivity and improve the management of both patients and their families. In addition, these methodologies could lead to the identification of other BC-related genes, thereby increasing knowledge about hereditary BCs molecular bases.

Biochimica Clinica 2018; 42(4) 285-293
DOI: 10.19186/BC_2018.059
Pubblicato online il: 09.10.2018
Rassegne - Reviews
 
Un nuovo ruolo del CYP2R1nella sclerosi multipla
A new role of CYP2R1 in multiple sclerosis

Multiple sclerosis (MS) is a neurodegenerative autoimmune disease resulting from a complex interaction of genetic and environmental factors. Among these, vitamin D and genetic variants associated with vitamin D metabolism have gained great attention. The aim of our study was to assess two single nucleotide polymorphisms (SNPs) in CYP2R1 in relation to serum 25-OH-vitamin D3 levels in MS patients and healthy controls. 25-OH-vitamin D3 serum concentrations and genotyping of CYP2R1-SNPs gene were analysed both in MS patients and in healthy controls. In particular, rs10741657 and rs10766197 of CYP2R1 gene were assessed by real-time allelic discrimination Taq-Man assay (Applied Biosystems, Forster City, USA); 25-OH-vitamin D3 serum concentration was measured by a high-performance liquid chromatography (HPLC) method. Statistical analysis was performed by a SPSS software (version 13.0). The analysis of the obtained results showed lower 25-OH-vitamin D3 concentrations in MS patients than in controls. When comparing genotype distribution and allele frequencies of the two selected SNPs between cases and controls, significant differences were observed only for CYP2R1 rs10766197. Minor allele of CYP2R1 rs10766197 (A) was significantly represented in MS patients, demonstrating an association of allele A to MS. Analysis of the CYP2R1 rs10766197 distribution in MS patients showed that patients carrying the genotype AA had a trend of lower levels of 25-OH-vitamin D3 in comparison to those with genotype GG or GA, although not statistically significant. Moreover, after stratifying MS patients according to gender, we found that the minor allele A of rs10766197 in homozygosis was associated with disease progression, assessed by Expanded Disability Status Scale and Multiple Sclerosis Severity Score scores, only in men. Our study demonstrates a role of CYP2R1 in both risk and progression of MS, with sex-related differences

TAG: Disease Progression   Calcifediol   gender related differences  
Biochimica Clinica 2018; 42(4) 294-299
DOI: 10.19186/BC_2018.060
Pubblicato online il: 11.10.2018
Contributi Scientifici - Scientific Paper
 
Sicurezza del paziente e rischio clinico nel processo ematologico di laboratorio
Patient safety and clinical risk in the clinical laboratory haematological process

 Patient safety, defined as the prevention of harm to patients, is the ultimate goal for medical laboratories. Risk management principles should therefore be considered an integral part of laboratory processes, especially of those activities directly impacting on patient care. This work aims to identify the most critical phases of haematological process and the risk reduction actions that improve patient safety. Risk analysis of the laboratory haematological process was carried out through Failure Mode, Effects and Analysis Criticality methodology. A form including the phases of the process, error modes and their possible effects, errors occurrence, detectability and severity scores and risk index (RI), has been prepared and sent to eight Italian laboratories. A multidisciplinary team performed the analysis in each laboratory, then two team leaders of the project comprehensively analysed the collected data. The process was divided in 8 phases (medical prescription, request acceptance, sample collection, transportation, reception and processing, results reporting and validation), 25 activities (17 pre-analytical, 4 intra-analytical, 4 post-analytical) and 43 failure modes. RI, calculated for each activity, ranged from 11 to 33. The most critical topics (RI >25) were: patient identification, peripheral blood smear review, interpretative comments and report validation. Staff training plays a central role in the entire laboratory haematological process and in the phases identified as critical. An effective management related to the attainment and maintenance of skills represents the best action in order to reduce risks of adverse events for patients. The promotion of procedures aimed to harmonize the interpretative comments and peripheral blood smear review is also pivotal

 

TAG: Patient Safety   Clinical Laboratory Services   Risk   
Biochimica Clinica 2018; 42(4) 300-312
DOI: 10.19186/BC_2018.061
Pubblicato online il: 11.10.2018
Contributi Scientifici - Scientific Paper
 
Disposizioni normative in Italia per la gestione dei Point of Care Testing: un’indagine SIBioC nelle regioni italiane
Regolatory rules for the Point of Care Testing in Italy: a survey of the Italian Society of Clinical Biochemistry

Regolatory rules for the Point of Care Testing in Italy: a survey of the Italian Society of Clinical Biochemistry. Point-of-care testing (POCT) is a form of laboratory testing aimed to perform the analysis where healthcare is provided, close to or near the site of the patient care. It is a very common mode of providing laboratory testing, but concerns over the quality and errors of POCT have emerged from various sources. Regulations in different Countries and POCT operational guidelines have been produced by many professional groups and stakeholders, with the scope of minimizing testing errors and to built an efficient process. Since a national regulatory rule is lacking in Italy, a survey on the available local regulations has been conducted by the study group on POCT of the Italian Society of Clinical Biochemistry and Clinical Molecular Biology in all the Italian Regions; the results are reported in the present paper. Local regional rules are rather divergent: some of them contain only essential indications while others are too detailed and difficult to apply. The lack of harmonization and regulation among Italian regions makes necessary the issuing of a national rule aimed to minimize the problems associated with POCT management to deliver to patients the best outcome

Biochimica Clinica 2018; 42(4) 313-317
DOI: 10.19186/BC_2018.057
Pubblicato online il: 25.09.2018
Contributi Scientifici - Scientific Paper
 
Qualità delle raccomandazioni o raccomandazioni di qualità? Il caso antigene prostatico specifico nello screening del carcinoma della prostata
Quality of recommendations or recommandations of quality? The case of PSA-based screening for prostate cancer
M. Plebani  | 

Quality of recommendations or recommandations of quality? The case of PSA-based screening for prostate cancer. The l’US Preventive Services Task Force (USPSTF) has recently revisited the evidence on PSA-based screening for prostate cancer recognizing the consistent 25% to 30% relative reduction in deaths from prostate cancer observed in two clinical trials. The most recent Task Force recommendation statement, supported by the evidence report and systematic review, has rightly changed the recommendation for prostate cancer screening - from a grade of D to a grade of C - stating that men aged 55 to 69 years should make an informed decision whether to undergo screening. This change was based on a better understanding of the evidence supporting early detection and recognition that active surveillance, rather than treatment, of low-risk cancers was becoming much more common. The USPSTF has provided a timely and careful approach to reassessment of the benefits and harms of PSA-based screening for prostate cancer. Patients, together with their physicians, should decide whether prostate cancer screening is right for the individual patient.

TAG: EBM   PSA   Appropriateness  
Biochimica Clinica 2018; 42(4) 318-320
DOI: 10.19186/BC_2018.053
Pubblicato online il: 14.09.2018
Opinioni - Opinions
 
Antigene prostatico specifico, screening del cancro della prostata, linee guida e il giudice saggio
PSA, prostate cancer screening, clinical practice guidelines and the “wise judge”
M. Gion  | 

PSA, prostate cancer screening, clinical practice guidelines and the “wise judge”. PSA appeared since its earliest clinical use to be a promising tool for the early detection of prostate cancer (PCa) and several studies investigated its effectiveness in the screening of asymptomatic men. Three large randomized controlled trials involving 654,293 men, performed over the last 25 years, have been completed and results are now available. Two trials showed that PSA screening lead to an estimate of approximately 1 prostate cancer death avoided every 1000 men screened. The third, more recent, trial did not show any significant effect on PCa mortality after a 10 year follow-up. PSA screening also led to a risk reduction of 3 metastatic cases per 1000 screened men, but these findings did not reflect in a reduction of PCa specific mortality. The three studies confirmed a very high rate (50%) of overdiagnosis of indolent cancers, that increased the frequency of biopsy related complications and side effects due to treatments (incontinence, impotence, bowel dysfunction). In summary, benefits of PSA based screening of PCa are still debated while harms are established. A systematic search for clinical practice guidelines (CPG) published over prior 5 years identified 12 pertinent documents. CPGs unanimously agreed in recommending against PSA-based mass screening for PCa as a public health policy. Conversely, positions of CPGs are mixed concerning PSA for opportunistic screening: some CPGs recommend against, others recommend that an individualized risk-adapted strategy for early detection should be offered to well informed men with good performance status and 10-15 years of life expectancy. The comparative synopsis of CPGs shows the variability of decision-making in relation to the clinical problem and/or the context and offers to the physician the opportunity to “wisely” discuss with the patients all the possible choices supported by evidence.

TAG: EBM   PSA   Appropriateness  
Biochimica Clinica 2018; 42(4) 321-326
DOI: 10.19186/BC_2018.054
Pubblicato online il: 14.09.2018
Opinioni - Opinions
 
Diagnostica di laboratorio del rischio nefrolitiasico
Laboratory diagnostics of the nephrolithasic risk.

Laboratory diagnostics of the nephrolithasic risk. The urinary metabolic study is carried out for the evaluation of patients at the first episode of lithiasis but mainly for the monitoring of patients on therapy in order to prevent lithiasis recurrences. Following the indication of the general practitioner or of the nephrologist, our laboratory performs the analysis of both daily and first morning urine to extrapolate the tendency (relative supra-saturation) to form the most common urinary calculi (calcium oxalate, mono calcium phosphate acid, uric acid). In this paper we review the role of the different ions and urinary components in favoring or inhibiting stone formation. Then, we present the whole workflow for the characterization of the tendency of kidney stones formation, from the instructions to the patient for the collection of urines to the interpretative report. Regarding the analytical issues, we briefly present the methods, not commercially available, developed in our center that can be adapted to common biochemical analyzers allowing a complete characterization of the lithiasic tendency without the use of more specialized instrumentation.

Biochimica Clinica 2018; 42(4) 327-334
DOI: 10.19186/BC_2018.056
Pubblicato online il: 24.09.2018
Opinioni - Opinions
 
Specifiche di qualità, terminologia e definizione dei metodi di misura delle troponine cardiache Ie T
Quality specifications, terminology and definition of the methods for the measurement of cardiac troponins

All guidelines recommend that cardiac troponin I (cTnI) and T (cTnT) should be considered the preferred biomarkers for the differential diagnosis of acute coronary syndrome (ACS), and also that the 99th upper reference population limit value for cardiac troponins should be measured with an imprecision ≤10 CV%. However, only after the year 2006, some cTn methods showed analytical performances in accordance with the quality specifications required by guidelines. The cTn methods with the best analytical performances (currently named “high-sensitivity” methods) should be preferred for the early diagnosis of ACS and also for risk stratification of cardiovascular disease both in general population and cardiac patients. The most recent international guidelines recommend that two basic criteria are needed to define the characteristics required for cTn immunoassays in order to be defined as “high-sensitivity” methods. The first criterion is that the total imprecision (CV) at the 99th percentile value should be ≤10%. The second criterion is that these methods should measure cTn concentrations at least in 50% (and ideally >95%) of both healthy adult men and women with value above the assay’s limit of detection. The aim of this SIBioC document is to discuss some critical aspects related to definition of “high-sensitivity” cTn methods, including: analytical performance, pathophysiological interpretations, and clinical relevance of “high-sensitivity” cTn assays with particular attention to routine practice of clinical laboratories in Italy, recommending the use of an accurate terminology to avoid the usage of potentially misleading terms.

Biochimica Clinica 2018; 42(4) 335-342
DOI: 10.19186/BC_2018.062
Pubblicato online il: 11.10.2018
Documenti SIBioC - SIBioC Documents
 
Medicina di laboratorio e Medicina d’urgenza: un connubio indissolubile
Laboratory Medicine and Emergency Medicine: an essential partnership

Laboratory Medicine and Emergency Medicine: an essential partnership. A better understanding of the pathophysiological bases of many pathologies, along with the considerable technological advances occurred over last few years, have allowed to broaden number and complexity of in vitro diagnostic tests. The emergency department is the clinical setting with the highest risk of forensic disputes, and this explains the inclination that many emergency physicians have towards defensive medicine. Disproportionate request of laboratory tests, with poor awareness on the impact of inappropriateness, is one of the leading negative aftermath of this attitude. The predictable consequences are economic, but also encompass the risk of generating direct damage to the patients, especially in the presence of false positive test results. Since diagnostic appropriateness represents an essential element for patient safety and for sustainability of the National Healthcare System, the Italian Society of Clinical Biochemistry and Clinical Molecular Biology (SIBioC) and the Academy of Emergency Medicine and Care (AcEMC) have organized a joint meeting entitled "Laboratory Medicine and Emergency Medicine: an essential partnership", of which this document is a summary. The issues that have been discussed represent major diagnostic dilemmas faced by emergency physicians, and for which the contribution of laboratory medicine may be decisive. These include acute systemic infections, acute abdominal pain, acute chest pain, head injury and acute bleeding. Since timely transmission of test results is an additional critical element for the clinical decision making in emergency settings, the document will also include considerations on sample transportation from the emergency room to the laboratory.

Biochimica Clinica 2018; 42(4) 335-342
DOI: 10.19186/BC_2018.050
Pubblicato online il: 04.09.2018
Documenti - Documents
 
I laboratori sono in grado di rispondere ai requisiti previsti dalla norma EN ISO 15189 per la Valutazione Esterna di Qualità? Studio esplorativo sui laboratori toscani per i più comuni misurandi di chimica clinica
A scooping study assessing the compliance of clinical laboratories in Tuscany to ISO /IEC 15189 2012 requirements for clinical chemistry EQAS results

Caro Editore, desideriamo proporre ai lettori di Biochimica Clinica alcuni spunti di riflessione sui requisiti previsti dalla norma EN ISO 15189:2012  “Medical laboratories-Requirements for quality and competence” (1), relativi alla partecipazione a programmi di VEQ come declinati da Accredia, l'ente unico nazionale di accreditamento designato dal governo italiano, con il Regolamento Tecnico (RT) 26 Prescrizioni per l'accreditamento con campo di accreditamento flessibile (2). La norma EN ISO 15189 specifica che, per la concessione o il mantenimento dell’accreditamento, i laboratori debbano presentare evidenza di aver conseguito risultati positivi durante la partecipazione agli esercizi VEQ. Il RT 26 richiede che il laboratorio, nel periodo precedente l’inoltro della richiesta di accreditamento, abbia ottenuto quattro risultati positivi consecutivi per ogni misurando di cui venga richiesto l’accreditamento in campo flessibile. Il documento RT 26 lascia tuttavia, di fatto, spazi per l’interpretazione sia al provider che al laboratorio.

Biochimica Clinica 2018; 42(4) 347-349
DOI: 10.19186/BC_2018.063
Pubblicato online il: 31.10.2018
Lettere all'editore - Letters to the editor
 
155° Course, International School of Medical Sciences Ettore Majorana Foundation and Centre for Scientific Culture
M. Ciaccio  | 

Si è tenuto nei giorni 29-31 Maggio 2018 il 155° Corso dal titolo The New Era of Laboratory Medicine: from diagnosis to clinical management nell’ambito delle attività annuali della International School of Medical Sciences dell’Ettore Majorana Foundation and Centre for Scientific Culture (EMFCSC) di Erice, diretta dal professor Antonino Zichichi. L’EMFCSC, fin dal 1962, anno della sua istituzione, richiama studiosi da tutto il mondo a presentare i risultati delle ricerche più all’avanguardia. Oggi la fondazione comprende più di 120 scuole che abbracciano quasi tutti i settori delle scienze di base ed applicate, dalla fisica, disciplina per cui la fondazione mantiene una forte vocazione, all’epidemiologia e medicina preventiva, farmacologia, neuroscienze, e molte altre. Il corso è il primo nell’ambito delle attività dell’International School of Medical Sciences, diretta dallo stesso Zichichi e dal professor Ignazio Carreca, a trattare temi propri della Medicina di Laboratorio e di grande rilevanza per la Società Italiana di Biochimica Clinica e Biologia Molecolare Clinica – Medicina di Laboratorio (SIBioC). I Direttori del corso, il professor Marcello Ciaccio ed il professor Francesco Salvatore, hanno ricoperto entrambi la carica di presidente SIBioC nei bienni, rispettivamente, 2016/2017 e 1985/1986 – 1987/1988 ed hanno contribuito con entusiasmo alla crescita della società. 

Biochimica Clinica 2018; 42(4) 350-351
DOI: 10.19186/BC_2018.055
Pubblicato online il: 31.10.2018
SIBioC news - SIBioC news
 
Tre neonati con sindrome di Down ed alterazioni ematologiche
Three neonates with Down syndrome and hematological abnormalities

Three neonates with Down syndrome and hematological abnormalities. We report three cases of neonates with Down syndrome. In the first newborn, the complete blood count (CBC) showed leukocytosis (30x109/L). The presence of rare blasts, with morphological characteristics attributable to megacaryocytic blasts, were appreciated at the review of peripheral blood. In the second case the patient was hospitalized for severe anemia and neutropenia. The visual inspection of the peripheral blood smear showed the presence of rare undifferentiated blasts. The third patient was a premature neonate, with fetal hydrops. The CBC showed 172x109/L leukocytes and anemia. The peripheral blood smear showed erythroblasts and dysplastic platelets, prevalence of blasts, some of them with cytoplasmic blebs. In the all cases the diagnosis was Transient Abnormal Myelopoiesis (TAM), rather frequent in patients with Down syndrome. It is a transient syndrome characterized by the presence of megacaryoblasts in peripheral blood and mutation of the GATA1 gene. The information obtained by the visual inspection of the peripheral smears, could be important for a correct diagnosis, especially when the CBC data are not particularly abnormal

Biochimica Clinica 2018; 42(4) e47-e49
DOI: 10.19186/BC_2018.058
Casi Clinici - Case Report
 
Sinergia tra esperienza dell’operatore e analizzatori del sedimento urinario nella diagnosi di infezione da Poliomavirus BK
Laboratory professional and urinary sediment analyzer for the diagnosis of Polyomavirus BK infection.

Laboratory professional and urinary sediment analyzer for the diagnosis of Polyomavirus BK infection. Polyomavirus BK (BKV)-infected cells, (the so called decoy cells) were observed in two solid organ (kidney and lung) transplant recipients. In both patients, serum creatinine and BKV viremia were increased. Pharmacological immunodepression, during the 3-6 month period after transplantation, increases the risk of this viral infection and the related BKV nephropathy. Sedimax (Menarini), the automatic urinary sediment analyzer equipped with instrumental filters to select specific cellular patterns, utilized in our laboratory for urine examination, recognized some elements with enlarged ground glass–like nucleus and flagged them as "non-squamous epithelial cells". By using a phase contrast microscopy, we re-analyzed these specific urinary samples and identified these elements as decoy cells. Serial urinary sediment analysis is strictly required both to search early infection signs and to switch the differential diagnosis from neoplastic to BKV-infected cells. These crucial findings, provided by the laboratory staff expertise, can accelerate clinical decisions improving thus the long term transplantation outcomes.

Biochimica Clinica 2018; 42(4) e50-e52
DOI: 10.19186/BC_2018.046
Pubblicato online il: 01.08.2018
Casi Clinici - Case Report
 
Il contributo della misura delle catene leggere libere plasmatiche alla diagnostica della malattia da deposito delle catene leggere
The contribution of the plasma free light chains determination to the diagnosis of the Light Chain Deposition Disease

The contribution of the plasma free light chains determination to the diagnosis of the Light Chain Deposition Disease. Light Chain Deposition Disease (LCDD) is a clinical condition characterized by renal deposition of monoclonal free light chains, produced by B-cells or plasma cell clone. In LCDD, non-organized monoclonal immunoglobulin deposits along the glomerular and tubular basement membranes are composed of monoclonal light chains (kappa isotype in 92% of cases). These deposits differ from amyloidosis deposits because they do not show the typical affinity for Congo Red and do not have a fibrillar organization. We described a 64 years male patient with hypertension, proteinuria and nephrotic syndrome. Plasma cell dyscrasias diagnostic work-up evidenced only an abnormal kappa/lambda ratio and increased plasma concentrations of kappa free light chains. Serum and urine immunofixation did not demonstrated the presence on monoclonal immunoglobulin. Kidney biopsy showed a membranoproliferative glomerulonephritis pattern and renal immunofluorescence demonstrated the parietal diffuse linear staining of kappa monoclonal light chain along basement membranes. Ultrastructural appearance confirms the diagnosis of LCDD.

Biochimica Clinica 2018; 42(4) e53-e55
DOI: 10.19186/BC_2018.045
Pubblicato online il: 01.08.2018
Casi Clinici - Case Report
 
Individuazione e identificazione di una nuova variante emoglobinica durante la quantificazione dell’emoglobina glicata
Incidental detection of a new hemoglobin beta variant performing HbA1c measurement

Incidental detection of a new hemoglobin beta variant performing HbA1c measurement. Hemoglobin α and β chain variants can be incidentally detected during the glycated hemoglobin (HbA1c) determination. A 58-year-old female was investigated for HbA1c with Tera 3 Capillarys system (CE, Sebia). Quantification of HbA1c was invalidated by the presence of a double peak in the HbA0 zone. Standard high performance liquid chromatography (HPLC), performed with VARIANT IITM Analyzer (Biorad), did not separate the variant from Hb A0. β-globin gene sequencing showed a heterozygous variation of nucleotide sequence HBB: c.376C>A; beta 125 (H3) Pro>Thr. The new variant, called Hb-Novara, was found also in the daughter of the proband, associated with an alpha-talassemic trait. The hemoglobin stability tests of both subjects were normal. A combination of different technologies (such as HPLC and CE) can be useful in the detection of new hemoglobin variants. Although Hb-Novara seems to be asymptomatic, it could produce relevant hematological phenotypes when associated with α or β chain defects

 

Biochimica Clinica 2018; 42(4) e56-e58
DOI: 10.19186/BC_2018.048
Pubblicato online il: 01.08.2018
Casi clinici - Case Report
 
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