Screening tools for hereditary hemolytic anemia: new concepts and strategies

Fermo, Elisa; Vercellati, Cristina; Bianchi, Paola

doi:10.1080/17474086.2021.1886919

Cited by 11 publications

(10 citation statements)

References 76 publications

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“…A careful analysis of Group 2 put in light the limitations of laboratory work-up of CHAs. Only two among the undiagnosed families were found to have HS, suggesting that most of the HS patients can be correctly diagnosed during first and second level screening tools (Fermo et al, 2021). On the other hand, 10 out of the 19 families belonging to this group had an enzyme defect; in five of them enzymopathies were previously excluded because of normal enzyme activity, in the remaining cases the enzyme assays were not performed due to recent transfusions or unavailability of the appropriate sample.…”

Section: Discussionmentioning

confidence: 99%

“…The first diagnostic step relies on hematological tests (complete blood count, red cell indices, hemolysis markers), peripheral blood smear examination, osmotic fragility tests and eosin-5-maleimide (EMA) binding test. The second includes biochemical tests such as quantitative assay of RBC enzymes activity, sodium dodecyl sulphate-polyacrylamide gel electrophoresis (SDS-PAGE) for the diagnosis of membranopathies, and specialized investigations requiring instruments which are available only in reference Centers, as ektacytometry (King et al, 2015;Fermo et al, 2021). The molecular characterization of the affected genes by traditional Sanger sequencing was usually, up to some years ago, the last step allowing the definitive confirmation of the diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

et al. 2021

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Congenital hemolytic anemias (CHAs) are heterogeneous and rare disorders caused by alterations in structure, membrane transport, metabolism, or red blood cell production. The pathophysiology of these diseases, in particular the rarest, is often poorly understood, and easy-to-apply tools for diagnosis, clinical management, and patient stratification are still lacking. We report the 3-years monocentric experience with a 43 genes targeted Next Generation Sequencing (t-NGS) panel in diagnosis of CHAs; 122 patients from 105 unrelated families were investigated and the results compared with conventional laboratory pathway. Patients were divided in two groups: 1) cases diagnosed with hematologic investigations to be confirmed at molecular level, and 2) patients with unexplained anemia after extensive hematologic investigation. The overall sensitivity of t-NGS was 74 and 35% for families of groups 1 and 2, respectively. Inside this cohort of patients we identified 26 new pathogenic variants confirmed by functional evidence. The implementation of laboratory work-up with t-NGS increased the number of diagnoses in cases with unexplained anemia; cytoskeleton defects are well detected by conventional tools, deserving t-NGS to atypical cases; the diagnosis of Gardos channelopathy, some enzyme deficiencies, familial siterosterolemia, X-linked defects in females and other rare and ultra-rare diseases definitely benefits of t-NGS approaches.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

et al. 2021

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“…However, only the hematology analyzer produced by Beckman Coulter can report MSCV. [28][29][30] For the trait form of HS, Hb level and Ret (<3%) are normal; for mild HS, Hb level is 110-150 g/L and Ret is 3%-6%; for moderate HS, Hb level is 80-120 g/L and Ret >6%; and for severe HS, Hb level is 60-80 g/L, Ret is >10%. 1,9 We found that when MCHC >355 g/L is used as the threshold for diagnosing HS, the sensitivity and specificity are 41.07% and 94.47%, respectively; 31 when MCHC ≥334.9 g/L is used, the sensitivity and specificity are 82.1% and 94.5%, respectively.…”

Section: Hb and Hematocrit (Hct) Mchc Is Calculated As Hb Divided Bymentioning

confidence: 99%

The diagnostic protocol for hereditary spherocytosis‐2021 update

Liao

Lin

2021

Clinical Laboratory Analysis

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“…Automated hematology analysers provide whole blood counts with increasing reliability and accuracy ( 3 ). However, in daily laboratory practice, no analyser can determine properly RBC morphological abnormalities.…”

Section: Introductionmentioning

confidence: 99%

“…Whole reticulocyte fraction provides information on bone marrow recovery. However, few studies have evaluated these parameters in sickle cell disease and VOC development ( 3 , 4 , 6 ).…”

Section: Introductionmentioning

confidence: 99%

Assessment of Reticulocyte and Erythrocyte Parameters From Automated Blood Counts in Vaso-Occlusive Crisis on Sickle Cell Disease

et al. 2022

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Sickle cell disease is a complex genetic disease involving cell adhesion between red blood cells, white blood cells, platelets and endothelial cells, inducing painful vaso-occlusive crisis (VOC). We assessed reticulocyte and erythrocyte parameters in a cohort of confirmed SCD patients, and investigated whether a combination of these routine laboratory biomarkers of haemolysis could be used to predict VOC development. Reticulocyte and erythrocyte parameters were evaluated using the Sysmex XN-9000 analyser. A total of 98 patients with SCD were included, 72 in steady state and 26 in VOC. Among the 72 patients in steady state, 22 developed a VOC in the following year (median: 3 months [2–6]). The following parameters were increased in SCD patients with VOC development compared to SCD patients without VOC development in the following year: reticulocyte count (94.6 109/L [67.8–128] vs. 48.4 109/L [24.9–87.5]), immature reticulocyte count (259 109/L [181–334] vs. 152 109/L [129–208]) reticulocyte/immature reticulocyte fraction (IRF) ratio (6.63 109/(L*%) [4.67–9.56] vs. 4.94 109/(L*%) [3.96–6.61]), and medium fluorescence reticulocytes (MFR) (19.9% [17.4–20.7] vs. 17.1% [15.95–19.75]). The association of a reticulocyte count of >189.4 109/L and an MFR of >19.75% showed a sensitivity of 81.8% and a specificity of 88% to predict VOC development in the following year. Based on our findings, a combination of routine laboratory biomarkers, as reticulocyte count, immature reticulocyte count and fluorescent reticulocyte fraction at steady state, could be used to predict VOC development in SCD.

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Screening tools for hereditary hemolytic anemia: new concepts and strategies

Cited by 11 publications

References 76 publications

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study

The diagnostic protocol for hereditary spherocytosis‐2021 update

Assessment of Reticulocyte and Erythrocyte Parameters From Automated Blood Counts in Vaso-Occlusive Crisis on Sickle Cell Disease

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