Heavy Chain Disease Can Be Detected by Capillary Zone Electrophoresis

Luraschi, Paola; Infusino, Ilenia; Zorzoli, Irene; Merlini, Giampaolo; and, Camilla Fundarò; Franzini, Carlo

doi:10.1373/clinchem.2004.043158

Cited by 15 publications

(5 citation statements)

References 18 publications

(5 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our patients, two methods, capillary zone electrophoresis and gel electrophoresis, identified a gamma heavy chain with no corresponding light chain. Results from this report and previous reports [ 11 ] suggest that capillary zone electrophoresis and immunotyping are able to detect and characterise γ -HCD in serum. γ -Heavy chain was identified in the urine of both patients, suggesting that the lower-molecular weight of the truncated heavy chain allowed renal clearance.…”

Section: Discussionsupporting

confidence: 69%

See 1 more Smart Citation

Two Cases of γ-Heavy Chain Disease and a Review of the Literature

Ramasamy

Rudzki

2018

Case Reports in Hematology

View full text Add to dashboard Cite

Gamma heavy chain disease (γ-HCD) is a rare lymphoproliferative disorder characterised by the production of a truncated immunoglobulin heavy chain. Fewer than 200 cases have been reported in the literature. In some cases, γ-HCD occurs with other lymphoid neoplasms. This study reports clinical, biochemical, haematological, and histological findings in two cases of γ-HCD. We describe newer biochemical diagnostic tools (HevyLite measurement, capillary electrophoresis, and immunotyping) that can aid in the characterisation of γ-HCD. The first case is an 88-year-old woman with γ-HCD. The second case is an 81-year-old woman who developed γ-HCD during treatment for Waldenstrom's macroglobulinemia. In the second patient, histopathology identified a separate clone responsible for the secretion of the gamma heavy chain. Studies on the clonal evolution of the disease may provide insight into therapeutic implications and the genomic complexity of the disease.

show abstract

Section: Discussionsupporting

confidence: 69%

“…Serum IgG subtypes showed an increase in IgG1 subclass in both patients. In a previous report, serum IgG measured by nephelometry on the Beckman Coulter Immage analyser was below the reference range in a patient with γ -HCD [ 11 ]. Total IgG and IgG1 subclasses measured using the binding site reagent were increased in our patients.…”

Section: Discussionmentioning

confidence: 99%

Two Cases of γ-Heavy Chain Disease and a Review of the Literature

Ramasamy

Rudzki

2018

Case Reports in Hematology

View full text Add to dashboard Cite

show abstract

“…Suboptimal detection performances are therefore possibly due to the particular migration pattern even though Luraschi et al . reported a case where gamma HCD was detected in the course of routine serum assay by CZE through a peak in the beta region (14). The confirmation and identification of the monoclonal protein was performed with means of serum immunofixation revealing the presence of a monoclonal gamma band with no corresponding light chain; a finding consistent with the diagnosis of gamma HCD.…”

Section: Discussionmentioning

confidence: 99%

Gamma heavy chain disease in a patient with rheumatoid arthritis – a laboratory evaluation

et al. 2012

View full text Add to dashboard Cite

Introduction: Heavy chain diseases (HCD) are neoplastic proliferations of B cells which secrete truncated immunoglobulin heavy chains without associated light chains. Being rare and probably underdiagnosed diseases the aim of this report is to show an additional case of gamma heavy chain disease in a 48 year old female patient with rheumatoid arthritis focusing on the laboratory presentation. Materials and methods: Laboratory work-up included agarose gel electrophoresis (AGE), capillary zone electrophoresis (CZE), immunofixation and nephelometrically determined immunoglobulin and immunoglobulin subclasses of the patient's serum. Urine samples were also subjected to immunofixation and to a SDS-PAGE with consecutive immunoblot. Results: Nephelometrically measured elevated IgG concentrations were noted in combination with a decreased gamma globulin region and an increased beta globulin region on AGE. A definite monoclonal spike was not identified on AGE but at least suspected on CZE; finally serum and urine immunofixation demonstrated a monoclonal gamma heavy chain devoid of any corresponding light chains confirming the diagnosis of HCD. Analysis of the gamma heavy chain (HC) with means of SDS-PAGE revealed proteins of 40 kD and 80 kD most likely presenting a truncated HC in its monomeric and dimeric form and possibly leading to the failure of IgG-subclass typing with the applied IgG subclass antisera. Conclusion: This case report illustrates a new case of gamma HCD demonstrating variable laboratory manifestations and therefore the need for heightened awareness concerning this disease when confronted with abnormal and discrepant protein profiles in routinely applied laboratory tests.

show abstract

“…In summary our analytical method based on the exclusion of two major Hpt phenotypes and never hitherto contemplated using CZE, represents a novel approach for obtaining additional diagnostic information from the serum protein electrophoresis that may be useful in screening patients for the identification of risks associated with Hpt 1–1 and 2–2 phenotypes. This information can be inserted in the laboratory reports as interpretative comments as suggested by recent articles 27, 28, without increasing technological costs.…”

Section: Discussionmentioning

confidence: 99%

Relationship between Hpt polymorphisms and serum protein electropherogram

et al. 2009

View full text Add to dashboard Cite

Serum protein electrophoresis is routinely used to identify pathologies involving dysproteinemia. The electropherogram mainly represents the most abundant serum proteins, one of which is the polymorphic haptoglobin (Hpt), characterized by a molecular heterogeneity with three major phenotypes (Hpt 1-1, 2-1, and 2-2). To improve the interpretation of electropherogram and possibly to extend its applicability, we aimed to explore the relationship between Hpt phenotypes (determined by immunoblotting) and protein profiles. Serum samples were separated by CZE with PROTEIN 6 and high-resolution methods. The PROTEIN 6 analysis showed significant associations between alpha2 zone profiles and Hpt phenotypes (chi-square=154.06, p<0.0001). The high-resolution method indicated significant differences between Hpt 2-2 and Hpt 1-1 peak mobilities, evidenced by receiver operating characteristic analysis, (area under the receiver operating characteristic curve=0.98, p<0.0001, standard error=0.01346, likelihood ratios=21.39), with 98.7% sensitivity, and 95.4% specificity. However, the structural heterogeneity of Hpt 2-1 made it difficult to relate with a particular profile. Thus, we developed an alternative approach that excluded the Hpt 1-1 or Hpt 2-2 phenotypes. This may prove to be a useful technique in clinical applications considering the involvement of Hpt 2-2 or Hpt 1-1 in various pathologies.

show abstract

Heavy Chain Disease Can Be Detected by Capillary Zone Electrophoresis

Cited by 15 publications

References 18 publications

Two Cases of γ-Heavy Chain Disease and a Review of the Literature

Two Cases of γ-Heavy Chain Disease and a Review of the Literature

Gamma heavy chain disease in a patient with rheumatoid arthritis – a laboratory evaluation

Relationship between Hpt polymorphisms and serum protein electropherogram

Contact Info

Product

Resources

About