Pub Date : 2025-05-18DOI: 10.1016/j.bcmd.2025.102935
Emmanuel Längst , Michel Prudent
Transfusion is a life-saving practice that requires regular blood donation from healthy volunteers. Red blood cells (RBCs) are isolated from blood donation and stored as RBC concentrates (RCCs) at 4 °C for 42 to 49 days depending on storage solution. RBCs have been intensively studied in this context since World War II and a plethora of data has been obtained from identification and quantification of small molecules to cell function. It has become evident that the RBC properties can be affected by different parameters such as the manufacturing process and donor characteristics. These factors among others may exert a significant influence on transfusion efficacy and clinical outcomes.
After a first part summarizing the impact of the transfusion chain on RBCs and the clinical outcomes (from donors to patients), this review will present different strategies from simple to complex models and from in vitro experiments to clinical trials to fully characterize the properties of RBCs. Furthermore, in silico modeling will be discussed. Beyond pre-analytical conditions, the experimental design might influence the findings. It is therefore essential to expose the RBCs to conditions adapted to the tested hypothesis to understand RBC behavior to optimize the transfusion outcome.
{"title":"Methodological strategies to study and elucidate RBC properties and their potential clinical impact on transfused patients","authors":"Emmanuel Längst , Michel Prudent","doi":"10.1016/j.bcmd.2025.102935","DOIUrl":"10.1016/j.bcmd.2025.102935","url":null,"abstract":"<div><div>Transfusion is a life-saving practice that requires regular blood donation from healthy volunteers. Red blood cells (RBCs) are isolated from blood donation and stored as RBC concentrates (RCCs) at 4 °C for 42 to 49 days depending on storage solution. RBCs have been intensively studied in this context since World War II and a plethora of data has been obtained from identification and quantification of small molecules to cell function. It has become evident that the RBC properties can be affected by different parameters such as the manufacturing process and donor characteristics. These factors among others may exert a significant influence on transfusion efficacy and clinical outcomes.</div><div>After a first part summarizing the impact of the transfusion chain on RBCs and the clinical outcomes (from donors to patients), this review will present different strategies from simple to complex models and from <em>in vitro</em> experiments to clinical trials to fully characterize the properties of RBCs. Furthermore, <em>in silico</em> modeling will be discussed. Beyond pre-analytical conditions, the experimental design might influence the findings. It is therefore essential to expose the RBCs to conditions adapted to the tested hypothesis to understand RBC behavior to optimize the transfusion outcome.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102935"},"PeriodicalIF":2.1,"publicationDate":"2025-05-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144170588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-05-16DOI: 10.1016/j.bcmd.2025.102934
Guzmán López de Hontanar Torres , Montserrat López Rubio , Rafael del Orbe Barreto , Joan-Lluis Vives Corrons , Elena Krishnevskaya , Pedro Antonio Rodríguez Barquero , José María Aspa Cilleruelo , Lucía Castilla García
{"title":"Use of ektacytometry in patients with PIEZO1 variants of unknown significance","authors":"Guzmán López de Hontanar Torres , Montserrat López Rubio , Rafael del Orbe Barreto , Joan-Lluis Vives Corrons , Elena Krishnevskaya , Pedro Antonio Rodríguez Barquero , José María Aspa Cilleruelo , Lucía Castilla García","doi":"10.1016/j.bcmd.2025.102934","DOIUrl":"10.1016/j.bcmd.2025.102934","url":null,"abstract":"","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102934"},"PeriodicalIF":2.1,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144089592","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"An analysis of bone marrow burden scores in a retrospective analysis of adult patients with type 1 Gaucher disease","authors":"Marie-Claude Miron , Dominick Amato , Rakesh Mohankumar , Orla Drumm , Graeme Nimmo","doi":"10.1016/j.bcmd.2025.102933","DOIUrl":"10.1016/j.bcmd.2025.102933","url":null,"abstract":"","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102933"},"PeriodicalIF":2.1,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144083919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Shwachman-Diamond syndrome (SDS) is a rare bone marrow failure disorder presenting with early onset cytopenia, chronic diarrhea, and failure to thrive with biallelic pathogenic variants in the SBDS (SDS1; 260400) gene. Recently, biallelic variants in DNAJC21 (BMFS3; 617052) and ELF1 genes have also been shown to be related to SDS-like phenotype. Additionally, a monoallelic variant of the SBDS gene has been linked to the development of idiopathic aplastic anemia (IAA). We screened 405 marrow failure cases and noted 10 different SDS gene variants in 3 % (11/405) cases, of which 2 (20 %) were novel; DNAJC21 variant c.98-2delA and SBDS variant c.359T>C. In this report, we highlight the detailed phenotype and genotype of these cases and emphasize cryptic and atypical presentations.
{"title":"Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations","authors":"Swetha Palla , Prateek Bhatia , Sudhanshi Raina , Sreejesh Sreedharanunni , Alka Khadwal , Arihant Jain , Pankaj Malhotra , Minu Singh , Amita Trehan","doi":"10.1016/j.bcmd.2025.102924","DOIUrl":"10.1016/j.bcmd.2025.102924","url":null,"abstract":"<div><div>Shwachman-Diamond syndrome (SDS) is a rare bone marrow failure disorder presenting with early onset cytopenia, chronic diarrhea, and failure to thrive with biallelic pathogenic variants in the <em>SBDS</em> (SDS1; 260400) gene. Recently, biallelic variants in <em>DNAJC21</em> (BMFS3; 617052) and <em>ELF1</em> genes have also been shown to be related to SDS-like phenotype. Additionally, a monoallelic variant of the <em>SBDS</em> gene has been linked to the development of idiopathic aplastic anemia (IAA). We screened 405 marrow failure cases and noted 10 different SDS gene variants in 3 % (11/405) cases, of which 2 (20 %) were novel; <em>DNAJC21</em> variant c.98-2delA and <em>SBDS</em> variant c.359T>C. In this report, we highlight the detailed phenotype and genotype of these cases and emphasize cryptic and atypical presentations.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"113 ","pages":"Article 102924"},"PeriodicalIF":2.1,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143800033","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
We retrospectively reviewed the clinical records of 228 HbS/β+-thal patients. The different genotypes were distributed into three groups according to their mean residual HbA levels: <10 % (group 1; n = 22), between 10 and 20 % (group 2; n = 175) and > 20 % (group 3; n = 31). Routine red blood cells and hemoglobin parameters were compared between the three groups. Sixteen different sickle β+-thal genotypes were identified but only four of them were associated with a residual HbA level below 10 %. Patients of this group exhibited a more severe anemia (Hb < 10 g/dL; reticulocytes >200 G/L) compared to the two other groups. However, no difference could be observed on those parameters between patients of group 2 and 3, as well as for the main RBC parameters. According to our study, >80 % of the sickle β+-thalassemia patients in France have a residual HbA level beyond 10 % and a mild to moderate anemia. Only four β+-thal variations (all affecting the splicing process) would lead to a potentially severe SCD syndrome in association with HbS (HbA < 10 %) but this result should be confirmed in a prospective clinical study.
{"title":"Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France","authors":"Cecilia Baltus , Stéphane Moutereau , Nathalie Couque , Bichr Allaf , Muriel Giansily-Blaizot , Julian Boutin , Ketty Lee , Emmanuelle Bernit , Estelle Cadet , Victor Bobee , Véronique Picard , Serge Pissard , Frédéric Galactéros , Céline Renoux , Philippe Connes , Patricia Aguilar-Martinez , Corinne Pondarre , Philippe Joly","doi":"10.1016/j.bcmd.2025.102923","DOIUrl":"10.1016/j.bcmd.2025.102923","url":null,"abstract":"<div><div>We retrospectively reviewed the clinical records of 228 HbS/β<sup>+</sup>-thal patients. The different genotypes were distributed into three groups according to their mean residual HbA levels: <10 % (group 1; n = 22), between 10 and 20 % (group 2; n = 175) and > 20 % (group 3; n = 31). Routine red blood cells and hemoglobin parameters were compared between the three groups. Sixteen different sickle β<sup>+</sup>-thal genotypes were identified but only four of them were associated with a residual HbA level below 10 %. Patients of this group exhibited a more severe anemia (Hb < 10 g/dL; reticulocytes >200 G/L) compared to the two other groups. However, no difference could be observed on those parameters between patients of group 2 and 3, as well as for the main RBC parameters. According to our study, >80 % of the sickle β<sup>+</sup>-thalassemia patients in France have a residual HbA level beyond 10 % and a mild to moderate anemia. Only four β<sup>+</sup>-thal variations (all affecting the splicing process) would lead to a potentially severe SCD syndrome in association with HbS (HbA < 10 %) but <em>t</em>his result should be confirmed in a prospective clinical study.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102923"},"PeriodicalIF":2.1,"publicationDate":"2025-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143747488","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Danazol is frequently used in treating patients with acquired aplastic anaemia (AA) in resource-constraint settings. We aimed to evaluate the cardiometabolic side effects of Danazol in patients with AA.
Methods
This prospective study included newly-diagnosed AA patients ≥13 years of age who were eligible for Danazol monotherapy (10 mg/kg/day, capped at 600 mg/day). Lipid profile and two-dimensional echocardiogram were obtained at the baseline and after 6 months of Danazol treatment. Transfusion of blood products and liver function test-based dose adjustments were done as indicated. Pre- and post-treatment parameters were compared using SPSS software version 25.
Results
36 patients (median age, 28.5 years) were enrolled. HDL cholesterol decreased by 30 % (p ≤0.001), and LDL cholesterol increased by 11 % (p = 0.002) at the end of 6 months. At the end of 6 months, there was a significant increase in the left ventricular (LV) ejection fraction (p = 0.001), LV mass (p ≤0.001), peak A-velocity (p = 0.01), isovolumetric relaxation time (p = 0.032), and a significant decrease in peak E-velocity (p ≤0.00) and Tei index (p = 0.031). Right ventricular E/A ratio also decreased significantly (p < 0.001).
Conclusions
Danazol treatment causes profound dyslipidaemia and potential cardiac dysfunction in patients with AA.
{"title":"Danazol causes significant changes in the cardiometabolic profile of patients with acquired aplastic anaemia","authors":"Hitesh Gurjar , Ankur Jain , Sujata Wangkheimayum , Subhash Varma , Rajesh Vijayvergiya , Pankaj Malhotra","doi":"10.1016/j.bcmd.2025.102921","DOIUrl":"10.1016/j.bcmd.2025.102921","url":null,"abstract":"<div><h3>Background</h3><div>Danazol is frequently used in treating patients with acquired aplastic anaemia (AA) in resource-constraint settings. We aimed to evaluate the cardiometabolic side effects of Danazol in patients with AA.</div></div><div><h3>Methods</h3><div>This prospective study included newly-diagnosed AA patients ≥13 years of age who were eligible for Danazol monotherapy (10 mg/kg/day, capped at 600 mg/day). Lipid profile and two-dimensional echocardiogram were obtained at the baseline and after 6 months of Danazol treatment. Transfusion of blood products and liver function test-based dose adjustments were done as indicated. Pre- and post-treatment parameters were compared using SPSS software version 25.</div></div><div><h3>Results</h3><div>36 patients (median age, 28.5 years) were enrolled. HDL cholesterol decreased by 30 % (p ≤0.001), and LDL cholesterol increased by 11 % (p = 0.002) at the end of 6 months. At the end of 6 months, there was a significant increase in the left ventricular (LV) ejection fraction (p = 0.001), LV mass (p ≤0.001), peak A-velocity (p = 0.01), isovolumetric relaxation time (p = 0.032), and a significant decrease in peak E-velocity (p ≤0.00) and Tei index (p = 0.031). Right ventricular E/A ratio also decreased significantly (p < 0.001).</div></div><div><h3>Conclusions</h3><div>Danazol treatment causes profound dyslipidaemia and potential cardiac dysfunction in patients with AA.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102921"},"PeriodicalIF":2.1,"publicationDate":"2025-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143747489","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-03-22DOI: 10.1016/j.bcmd.2025.102922
Josimare Aparecida Otoni Spira , Mery Natali Silva Abreu , Antônio Carlos Martins Guedes , Eline Lima Borges
Aim
To identify factors associated with the occurrence of leg ulcers in people with sickle cell disease.
Methods
Unpaired case-control study, conducted in 11 specialized services, between August 2019 and April 2020. The convenience sample consisted of 262 people over 18 years of age, diagnosed with sickle cell disease, with 190 controls and 72 cases. To evaluate the possible factors associated with the occurrence of ulcers, both univariate and multivariate binary logistic regression models were used.
Findings
The factors associated with the occurrence of leg ulcers were previously healed ulcers (odds ratio 48.48), presence of edema in the lower limbs (5.75), use of antibiotics in the last six months (3.08), daily rest (4.59), and use of compression stockings (6.24). Overweight (0.16), physical leisure (0.33), and domestic (0.37) activities were associated with a lower chance of occurrence of ulcers.
Conclusion
Identifying the factors that increase the likelihood of leg ulcers occurring in people with sickle cell disease adds to our knowledge of the subject, especially by determining factors that mitigate the occurrence of ulcers and that go beyond clinical variables.
{"title":"Factors associated with the occurrence of leg ulcers in people with sickle cell disease: A case-control study","authors":"Josimare Aparecida Otoni Spira , Mery Natali Silva Abreu , Antônio Carlos Martins Guedes , Eline Lima Borges","doi":"10.1016/j.bcmd.2025.102922","DOIUrl":"10.1016/j.bcmd.2025.102922","url":null,"abstract":"<div><h3>Aim</h3><div>To identify factors associated with the occurrence of leg ulcers in people with sickle cell disease.</div></div><div><h3>Methods</h3><div>Unpaired case-control study, conducted in 11 specialized services, between August 2019 and April 2020. The convenience sample consisted of 262 people over 18 years of age, diagnosed with sickle cell disease, with 190 controls and 72 cases. To evaluate the possible factors associated with the occurrence of ulcers, both univariate and multivariate binary logistic regression models were used.</div></div><div><h3>Findings</h3><div>The factors associated with the occurrence of leg ulcers were previously healed ulcers (odds ratio 48.48), presence of edema in the lower limbs (5.75), use of antibiotics in the last six months (3.08), daily rest (4.59), and use of compression stockings (6.24). Overweight (0.16), physical leisure (0.33), and domestic (0.37) activities were associated with a lower chance of occurrence of ulcers.</div></div><div><h3>Conclusion</h3><div>Identifying the factors that increase the likelihood of leg ulcers occurring in people with sickle cell disease adds to our knowledge of the subject, especially by determining factors that mitigate the occurrence of ulcers and that go beyond clinical variables.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102922"},"PeriodicalIF":2.1,"publicationDate":"2025-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143681931","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-25DOI: 10.1016/j.bcmd.2025.102912
Kyeongmin Kim , Hyerin Lee , Soyul Ahn , Yun Hak Kim , Chang-Kyu Oh
Diamond-Blackfan Anemia (DBA) is a rare congenital disorder characterized by macrocytic anemia, physical abnormalities, and growth delays. Although RPS19 mutations have been more extensively studied in DBA compared to other ribosomal protein genes, the pathological mechanisms of genes such as RPS17 remain largely unexplored. This study aimed to investigate the role of RPS17 haploinsufficiency in DBA, focusing on its downstream effects on erythropoiesis and the involvement of SLC4A1, a critical erythrocyte membrane protein essential for red blood cell stability. Transcriptomic analysis of publicly available RNA sequencing data from DBA patients revealed significant downregulation of SLC4A1 in RPS17-mutated cases. To validate these findings, we generated a zebrafish model of DBA by knocking down rps17 using morpholino injections. Zebrafish embryos with rps17 knockdown exhibited reduced erythropoiesis, impaired hemoglobin synthesis, consistent with DBA. Further analysis confirmed decreased slc4a1a expression in rps17-morphants. Independent knockdown of slc4a1a in zebrafish resulted in similar erythropoietic defects, highlighting its critical role in red blood cell membrane integrity and function. This study identifies slc4a1 as a key downstream target of RPS17 haploinsufficiency and provides novel insights into the molecular mechanisms of DBA. By establishing zebrafish as an effective in vivo model, this research offers potential therapeutic targets for treating DBA and related erythropoietic disorders.
{"title":"Unveiling the role of RPS17 and SLC4A1 in diamond-Blackfan Anemia: A zebrafish-based study","authors":"Kyeongmin Kim , Hyerin Lee , Soyul Ahn , Yun Hak Kim , Chang-Kyu Oh","doi":"10.1016/j.bcmd.2025.102912","DOIUrl":"10.1016/j.bcmd.2025.102912","url":null,"abstract":"<div><div>Diamond-Blackfan Anemia (DBA) is a rare congenital disorder characterized by macrocytic anemia, physical abnormalities, and growth delays. Although RPS19 mutations have been more extensively studied in DBA compared to other ribosomal protein genes, the pathological mechanisms of genes such as RPS17 remain largely unexplored. This study aimed to investigate the role of RPS17 haploinsufficiency in DBA, focusing on its downstream effects on erythropoiesis and the involvement of SLC4A1, a critical erythrocyte membrane protein essential for red blood cell stability. Transcriptomic analysis of publicly available RNA sequencing data from DBA patients revealed significant downregulation of SLC4A1 in RPS17-mutated cases. To validate these findings, we generated a zebrafish model of DBA by knocking down <em>rps17</em> using morpholino injections. Zebrafish embryos with <em>rps17</em> knockdown exhibited reduced erythropoiesis, impaired hemoglobin synthesis, consistent with DBA. Further analysis confirmed decreased <em>slc4a1a</em> expression in rps17-morphants. Independent knockdown of <em>slc4a1a</em> in zebrafish resulted in similar erythropoietic defects, highlighting its critical role in red blood cell membrane integrity and function. This study identifies slc4a1 as a key downstream target of RPS17 haploinsufficiency and provides novel insights into the molecular mechanisms of DBA. By establishing zebrafish as an effective in vivo model, this research offers potential therapeutic targets for treating DBA and related erythropoietic disorders.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"112 ","pages":"Article 102912"},"PeriodicalIF":2.1,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143487929","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2025-02-07DOI: 10.1016/j.bcmd.2025.102910
Richard A. King , Rami Khoriaty
Under steady state conditions, humans must produce ∼2 million red blood cells per second to sustain normal red blood cell counts and hemoglobin levels. Ineffective erythropoiesis, also termed dyserythropoiesis, is a process by which erythroid precursors die or fail to efficiently differentiate in the bone marrow. Ineffective erythropoiesis is characterized by expanded bone marrow erythropoiesis and increased erythroferrone production by bone marrow erythroblasts, with the latter resulting in reduced hepcidin production and increased iron absorption. Ineffective erythropoiesis may result from acquired and congenital conditions. Inherited causes of ineffective erythropoiesis include β-thalassemia, sideroblastic anemias, pyruvate kinase deficiency, and congenital dyserythropoietic anemias. This manuscript reviews the definition and evidence for ineffective erythropoiesis and describes the most common hereditary disorders of dyserythropoiesis.
{"title":"Hereditary disorders of ineffective erythropoiesis","authors":"Richard A. King , Rami Khoriaty","doi":"10.1016/j.bcmd.2025.102910","DOIUrl":"10.1016/j.bcmd.2025.102910","url":null,"abstract":"<div><div>Under steady state conditions, humans must produce ∼2 million red blood cells per second to sustain normal red blood cell counts and hemoglobin levels. Ineffective erythropoiesis, also termed dyserythropoiesis, is a process by which erythroid precursors die or fail to efficiently differentiate in the bone marrow. Ineffective erythropoiesis is characterized by expanded bone marrow erythropoiesis and increased erythroferrone production by bone marrow erythroblasts, with the latter resulting in reduced hepcidin production and increased iron absorption. Ineffective erythropoiesis may result from acquired and congenital conditions. Inherited causes of ineffective erythropoiesis include β-thalassemia, sideroblastic anemias, pyruvate kinase deficiency, and congenital dyserythropoietic anemias. This manuscript reviews the definition and evidence for ineffective erythropoiesis and describes the most common hereditary disorders of dyserythropoiesis.</div></div>","PeriodicalId":8972,"journal":{"name":"Blood Cells Molecules and Diseases","volume":"111 ","pages":"Article 102910"},"PeriodicalIF":2.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143388100","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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