<scp>ICSH</scp> guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders

King, May‐Jean; Garçon, Loïc; Hoyer, James D.; Iolascon, Achille; Picard, Véronique; Stewart, Gordon W.; Bianchi, Paola; Lee, S.-H.; Zanella, Alberto

doi:10.1111/ijlh.12335

Cited by 139 publications

(153 citation statements)

References 118 publications

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“…The median age of diagnosis in this series is 16 years, probably because CDAII is often misdiagnosed with other congenital anaemias, particularly hereditary spherocytosis (King et al, 2015). However, when the analysis is performed as a function of the patients' date of birth, the age of diagnosis drastically drops to 1Á6 years (range 0-8) for subjects born in the last two decades, presumably due to the availability of sensitive and specific laboratory markers (hypoglycosylation of band 3 and presence of endoplasmic reticulum remnants in plasma membrane) (Alloisio et al, 1996), and the identification of the causative gene (Bianchi et al, 2009;Schwarz et al, 2009).…”

Section: Discussionmentioning

confidence: 94%

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype‐phenotype correlations

et al. 2016

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Congenital dyserythropoietic anaemia type II (CDAII) is a rare autosomal recessive disease characterized by ineffective erythropoiesis, haemolysis, erythroblast morphological abnormalities, hypoglycosylation of some red blood cell membrane proteins, particularly band 3, and mutations in the SEC23B gene. We report the analysis of 101 patients from 91 families with a median follow-up of 23 years (range 0-65); 68 patients are newly reported. Clinical and haematological parameters were separately analysed in early infancy and thereafter, when feasible. Molecular analysis of the SEC23B gene confirmed the high heterogeneity of the defect, leading to the identification of 54 different mutations, 24 of which are newly described. To evaluate the genotype-phenotype correlation, patients were grouped according to their genotype (two missense mutations vs. one missense/one drastic mutation) and assigned to two different severity gradings based on laboratory data and on therapeutic needs; by this approach only a weak genotype-phenotype correlation was observed in the analysed groups.

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Section: Discussionmentioning

confidence: 94%

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype‐phenotype correlations

et al. 2016

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“…The osmotic fragility test has been considered the gold standard screening test for HS but provides false-negative findings in about 25% of patients [24]. Eosin-5'-maleimide measurement and SDS-polyacrylamide gel electrophoresis of erythrocyte membrane proteins are also useful for screening HS, but standardization of these methods is currently lacking [2526]. None of the HS screening tests can detect all patients because the clinical phenotypes are widely variable, ranging from asymptomatic to severely affected [27].…”

Section: Rbc Membranopathymentioning

confidence: 99%

“…NGS panels consisting of common disease-causing genes have been developed and applied to routine molecular diagnosis for undiagnosed IHA patients and their families [1599]. In particular, patients with the co-presence of membranopathy, enzymopathy, and/or hemoglobinopathy [25100] can be effectively diagnosed using this new technology. Causal gene identification can be deduced through an efficient and reliable strategy to impute and analyze NGS data [101] (Fig.…”

Section: Next-generation Sequencing For the Genetic Diagnosis Of Ihamentioning

confidence: 99%

Diagnostic approaches for inherited hemolytic anemia in the genetic era

2017

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Inherited hemolytic anemias (IHAs) are genetic diseases that present with anemia due to the increased destruction of circulating abnormal RBCs. The RBC abnormalities are classified into the three major disorders of membranopathies, hemoglobinopathies, and enzymopathies. Traditional diagnosis of IHA has been performed via a step-wise process combining clinical and laboratory findings. Nowadays, the etiology of IHA accounts for germline mutations of the responsible genes coding for the structural components of RBCs. Recent advances in molecular technologies, including next-generation sequencing, inspire us to apply these technologies as a first-line approach for the identification of potential mutations and to determine the novel causative genes in patients with IHAs. We herein review the concept and strategy for the genetic diagnosis of IHAs and provide an overview of the preparations for clinical applications of the new molecular technologies.

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“…170 Due to the concerted efforts of several EU groups, a new edition of diagnostic guidelines for hereditary spherocytosis is about to be published. 171 However, no specific guidelines are currently available for the rarer HAs.…”

Section: European Research Contributionsmentioning

confidence: 99%

The European Hematology Association Roadmap for European Hematology Research: a consensus document

et al. 2016

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T he European Hematology Association (EHA) Roadmap for European Hematology Research highlights major achievements in diagnosis and treatment of blood disorders and identifies the greatest unmet clinical and scientific needs in those areas to enable better funded, more focused European hematology research. Initiated by the EHA, around 300 experts contributed to the consensus document, which will help European policy makers, research funders, research organizations, researchers, and patient groups make better informed decisions on hematology research. It also aims to raise public awareness of the burden of blood disorders on European society, which purely in economic terms is estimated at €23 billion per year, a level of cost that is not matched in current European hematology research funding. In recent decades, hematology research has improved our fundamental understanding of the biology of blood disorders, and has improved diagnostics and treatments, sometimes in revolutionary ways. This progress highlights the potential of focused basic research programs such as this EHA Roadmap. The EHA Roadmap identifies nine 'sections' in hematology: normal hematopoiesis, malignant lymphoid and myeloid diseases, anemias and related diseases, platelet disorders, blood coagulation and hemostatic disorders, transfusion medicine, infections in hematology, and hematopoietic stem cell transplantation. These sections span 60 smaller groups of diseases or disorders. The EHA Roadmap identifies priorities and needs across the field of hematology, including those to develop targeted therapies based on genomic profiling and chemical biology, to eradicate minimal residual malignant disease, and to develop cellular immunotherapies, combination treatments, gene therapies, hematopoietic stem cell treatments, and treatments that are better tolerated by elderly patients.

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ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders

Cited by 139 publications

References 118 publications

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype‐phenotype correlations

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype‐phenotype correlations

Diagnostic approaches for inherited hemolytic anemia in the genetic era

The European Hematology Association Roadmap for European Hematology Research: a consensus document

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