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Journal articles on the topic 'Congenital dyserythropoietic anemia type II'

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Author: Grafiati

Published: 9 March 2023

Last updated: 10 March 2023

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1

Modi, Gaurang, Sandip Shah, Irappa Madabhavi, Harsha Panchal, Apurva Patel, Urmila Uparkar, Asha Anand, et al. "Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India." Case Reports in Hematology 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/792485.

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The most frequent form of congenital dyserythropoiesis (CDA) is congenital dyserythropoietic anemia II (CDA II). CDA II is a rare genetic anemia in humans, inherited in an autosomally recessive mode, characterized by hepatosplenomegaly normocytic anemia and hemolytic jaundice. Patients are usually transfusion-independent except in severe type. We are here reporting a case of severe transfusion-dependent type II congenital dyserythropoietic anemia in a 5-year-old patient who has undergone allogeneic hematopoietic stem cell transplantation (HSCT) at our bone marrow transplantation centre. Patient has had up until now more than 14 mL/kg/month of packed cell volume (PCV), which he required every 15 to 20 days to maintain his hemoglobin of 10 gm/dL and hematocrit of 30%. His pre-HSCT serum ferritin was 1500 ng/mL and he was on iron chelating therapy. Donor was HLA identical sibling (younger brother). The preparative regimen used was busulfan, cyclophosphamide, and antithymocyte globulin (Thymoglobulin). Cyclosporine and short-term methotrexate were used for graft versus host disease (GVHD) prophylaxis. Engraftment of donor cells was quick and the posttransplant course was uneventful. The patient is presently alive and doing well and he has been transfusion-independent for the past 33 months after HSCT.

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2

Fargion, Silvia, Luca Valenti, Anna Ludovica Fracanzani, Maurizio Sampietro, Maria Domenica Cappellini, Anna Scaccabarozzi, Davide Soligo, Chiara Mariani, and Gemino Fiorelli. "Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia." Blood 96, no. 10 (November 15, 2000): 3653–55. http://dx.doi.org/10.1182/blood.v96.10.3653.

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Abstract Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 diseases, both responsible for the iron overload. This report points out the need to consider congenital dyserythropoietic anemia in patients with hemochromatosis and unexplained macrocytosis and, conversely, to check for the presence of hereditary hemochromatosis in patients with congenital dyserythropoietic anemia and severe iron overload. To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia.

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3

Fargion, Silvia, Luca Valenti, Anna Ludovica Fracanzani, Maurizio Sampietro, Maria Domenica Cappellini, Anna Scaccabarozzi, Davide Soligo, Chiara Mariani, and Gemino Fiorelli. "Hereditary hemochromatosis in a patient with congenital dyserythropoietic anemia." Blood 96, no. 10 (November 15, 2000): 3653–55. http://dx.doi.org/10.1182/blood.v96.10.3653.h8003653_3653_3655.

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Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 diseases, both responsible for the iron overload. This report points out the need to consider congenital dyserythropoietic anemia in patients with hemochromatosis and unexplained macrocytosis and, conversely, to check for the presence of hereditary hemochromatosis in patients with congenital dyserythropoietic anemia and severe iron overload. To the authors' knowledge, this is the first report of homozygosity for the C282Y mutation of the HFE gene in a patient affected by congenital dyserythropoietic anemia.

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4

Iolascon, Achille, Domenico De Mattia, Silverio Perrotta, Massimo Carella, Paolo Gasparini, and Giorgio Lambertenghi Deliliers. "Genetic Heterogeneity of Congenital Dyserythropoietic Anemia Type II." Blood 92, no. 7 (October 1, 1998): 2593–94. http://dx.doi.org/10.1182/blood.v92.7.2593.

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5

Iolascon, A., S. Perrotta, V. Servedio, E. Miraglia del Giudice, R. Carbone, J. Delaunay, and P. Gasparini. "New Insights on Congenital Dyserythropoietic Anemia Type II." Pediatric Research 45 (May 1999): 759. http://dx.doi.org/10.1203/00006450-199905010-00126.

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6

Iolascon, A. "Natural history of congenital dyserythropoietic anemia type II." Blood 98, no. 4 (August 15, 2001): 1258–60. http://dx.doi.org/10.1182/blood.v98.4.1258.

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7

Marwaha, R. K., Deepak Bansal, Amita Trehan, and Gurjeewan Garewal. "INTERFERON THERAPY IN CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I/II." Pediatric Hematology and Oncology 22, no. 2 (January 2005): 133–38. http://dx.doi.org/10.1080/08880010590907221.

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8

Russo, Roberta, Immacolata Andolfo, Luigia De Falco, Francesco Manna, Antonella Gambale, Mariasole Bruno, Gianluca De Rosa, Domenico Girelli, Lucia De Franceschi, and Achille Iolascon. "Erfe-Encoding FAM132B in Congenital Dyserythropoietic Anemia Type II." Blood 126, no. 23 (December 3, 2015): 535. http://dx.doi.org/10.1182/blood.v126.23.535.535.

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Abstract Recessive mutations in SEC23B gene cause congenital dyserythropoietic anemia type II (CDAII), a rare hereditary disorder hallmarked by ineffective erythropoiesis, iron overload, and reduced expression of hepatic hormone hepcidin (Iolascon, 2013). The most recently described hepcidin regulator is the erythroblast-derived hormone erythroferrone (ERFE), a member of TNF-α superfamily that specifically inhibits hepcidin production in experimental models (Kautz, 2014). However, the function of ERFE in humans remains to be investigated. To determine whether dysregulation of ERFE expression is associated with ineffective erythropoiesis and iron-loading in CDAII, we studied the ERFE-encoding FAM132B gene expression in 48 SEC23B-related CDAII patients and 29 age and gender matched healthy controls (HCs). Twelve new cases and four novel SEC23B mutations were described. Samples were obtained after informed consent, according to the Declaration of Helsinki. Genomic DNA, mutational screening, RNA isolation, cDNA preparation, and qRT-PCR were performed as previously described (Russo, 2013). All patients were young adults (17.0±2.5 years at diagnosis), with increased serum ferritin (395.4±67.6 ng/mL) and transferrin saturation (71.9±5.4 %). We observed a statistically significant overexpression of FAM132B gene in peripheral blood mononuclear cells from CDAII patients (9.09±0.08) compared to HCs (8.32±0.12, p<0.0001). A similar trend was obtained when evaluating FAM132B expression in reticulocytes from a subset of patients and HCs. Of note, a statistically significant correlation between peripheral blood and reticulocyte FAM132B expression from the same patients was observed (Spearman ρ= 0.78, p=0.02). Although the role of ERFE in peripheral blood is still unknown, our observations suggested that the evaluation of FAM132B mRNA in peripheral blood is a reliable and easy-to-measure marker of ERFE levels. When we divided CDAII patients into two sub-groups accordingly to FAM132B gene expression, we observed a statistically significant reduction in hemoglobin (Hb) level in the high-FAM132B subset (8.6±0.4 g/dL) respect to low-FAM132B one (10.1±0.5 g/dL, p=0.02). Of note, the expression level of FAM132B did not correlate with the transfusion regimen. The higher amount of ERFE reflects the increased iron demand for Hb production as well as the expanding abnormal erythropoiesis, as attested by the increased RDW and sTfR (although not significant) in high-FAM132B patients. This in turn leads to reduced hepcidin in high-FAM132B group (4.2±1.8 nM) compared to low-FAM132B one (5.9±1.8 nM, p=0.05), resulting in augmented iron delivery to the erythron. Although the iron balance data do not differ significantly between the two groups, a tendency to decreased hepcidin/ferritin ratio and increased transferrin saturation was observed in high-FAM132B patients. Thus, FAM132B overexpression seems to contribute to the inappropriate suppression of hepcidin with subsequent hemosiderosis observed in CDAII. Consistent with our previous studies, we observed a reduced SEC23B expression in our patients compared to HC. Indeed, FAM132B and SEC23B gene expression exhibited an inverse correlation (Spearman ρ=-0.36, p=0.01). We confirmed the ex vivo data about inverse correlation between FAM132B and SEC23B expression observed in our patients by establishing K562 SEC23B-silenced cells. To knockdown SEC23B gene expression in K562 cells two different pGIPZ Lentiviral shRNAmir for SEC23B (shSEC23B-70/-74) were used. We observed a higher expression of FAM132B at 5 days of erythroid differentiation in K562 SEC23B-silenced cell compared to not-silenced ones. Conversely, SEC23B expression was lower in both shSEC23B compared to sh-CTR at 2 and 5 days of differentiation. Although the mechanisms of hemin-induced differentiation are quite different from EPO-induced ones, we can hypothesize that FAM132B over-expression is related to the maturative arrest and the subsequent increased number of erythroid precursors. This study provides the first analysis on ERFE regulation in humans. Our data suggest that ERFE over-expression in CDAII patients is the result of both physiological and pathological mechanisms leading to hepcidin suppression in condition of dyserythropoiesis. Nevertheless, it seems that ERFE cannot be the main erythroid regulator of hepcidin suppression, at least in CDAII patients. Disclosures No relevant conflicts of interest to declare.

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9

Köklü, Seyfettin, Derun Ertuğrul, Ahmet Mesut Onat, Sema Karakuş, İbrahim C. Haznedaroğlu, Yahya Büyükaşık, Nilgün Sayınalp, Osman Özcebe, and Semra V. Dündar. "Piebaldism associated with congenital dyserythropoietic anemia type II (HEMPAS)." American Journal of Hematology 69, no. 3 (February 20, 2002): 210–13. http://dx.doi.org/10.1002/ajh.10055.

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10

Iolascon, Achille, Emanuele Miraglia del Giudice, Silverio Perrotta, Matteo Granatiero, Leopoldo Zelante, and Paolo Gasparini. "Exclusion of Three Candidate Genes as Determinants of Congenital Dyserythropoietic Anemia Type II (CDA-II)." Blood 90, no. 10 (November 15, 1997): 4197–200. http://dx.doi.org/10.1182/blood.v90.10.4197.

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Abstract Congenital dyserythropoietic anemia type II (CDA-II) is the most common form of inherited dyserythropoiesis. Previous studies have shown that the anion transporter (band 3) is narrower and it migrates faster on sodium dodecyl sulfate-polyacrylamide gel electrophoresis (SDS-PAGE); this aspect was related to insufficient glycosylation. Biochemical data support the hypothesis that this disease is due to a deficiency of N-acetylglucosaminyltransferase II (GnT II) or α-Mannosidase II (α-Man II), which represent the key to glycosylation. In addition, a third candidate gene is α-Man IIx, which shows a strong homology with α-Man II. The knowledge of the chromosomal localization of these putative genes allowed us to perform a linkage study using three sets of microsatellite markers flanking the candidate genes. Six families with two or more affected children were enrolled in this study. The data obtained exclude linkage to all three candidate genes. In consideration of the biochemical data (reduction of enzymatic activity) of the same enzymes, our results suggest the hypothesis that a defect in an unknown transcriptional factor is involved in CDA-II.

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11

Chrobák, Ladislav, and Jindřiška Matysová. "Excess of Pappenheimer Bodies (Siderocytes) in Two Splenectomized Siblings with Congenital Dyserythropoietic Anemia – Type II (CDA-II) and Iron Overload." Acta Medica (Hradec Kralove, Czech Republic) 47, no. 3 (2004): 187–88. http://dx.doi.org/10.14712/18059694.2018.89.

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In two splenectomized siblings with congenital dyserythropoietic anemia type –II (CDA-II) and iron overload excess of Pappenheimer bodies reaching 46.4 % and 15.9 % respectively was found. Cause, significance and differential diagnosis of this finding were discussed.

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12

Lanzara, Carmela, Romina Ficarella, Angela Totaro, Xin Chen, Roberta Roberto, Silverio Perrotta, Carla Lasalandra, Paolo Gasparini, Achille Iolascon, and Massimo Carella. "Congenital dyserythropoietic anemia type II: exclusion of seven candidate genes." Blood Cells, Molecules, and Diseases 30, no. 1 (January 2003): 22–29. http://dx.doi.org/10.1016/s1079-9796(03)00009-3.

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13

Song, Joo Y., Anjali Pawar, and Christin Collins. "A novel variant mutation for congenital dyserythropoietic anemia, type II." Blood Cells, Molecules, and Diseases 53, no. 4 (December 2014): 272–73. http://dx.doi.org/10.1016/j.bcmd.2014.04.003.

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14

Tandon, Bevan, LoAnn C. Peterson, Stephanie Norwood, Anaadriana Zakarija, and Yi-Hua Chen. "Congenital dyserythropoietic anemia type II (CDA II) diagnosed in an adult patient." Journal of Hematopathology 3, no. 4 (November 19, 2010): 149–53. http://dx.doi.org/10.1007/s12308-010-0073-5.

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15

Heimpel, Hermann, Volker Anselstetter, Ladislav Chrobak, Jonas Denecke, Beate Einsiedler, Kerstin Gallmeier, Antje Griesshammer, et al. "Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation." Blood 102, no. 13 (December 15, 2003): 4576–81. http://dx.doi.org/10.1182/blood-2003-02-0613.

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AbstractCongenital dyserythropoietic anemia type II (CDA II) is the most frequent type of congenital dyserythropoietic anemia. More than 200 cases have been described, but with the exception of a report by the International CDA II Registry, these reports include only small numbers of cases and no data on the lifetime evolution of the disease. Since 1967, we were able to follow 48 cases of CDA II from 43 families for up to 35 years. All patients exhibit chronic anemia of variable severity requiring regular red cell transfusions only in a minority of children; 60% developed gallstones before the age of 30 years, and 16 patients had cholecystectomy between 8 and 34 years of age. Iron overload was a frequent complication. In 16 cases, iron depletion started between 7 and 36 years. Three patients died from secondary hemochromatosis. Splenectomy, performed in 22 cases, led to moderate increases in hemoglobin values and eliminated the need for transfusions but did not prevent further iron loading. The current recommendation is to consider splenectomy if the anemia compromises patients' performance, and to manage iron overload according to the guidelines derived from patients with thalassemia. (Blood. 2003;102:4576-4581)

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16

Heimpel, H., H. Wilts, W. D. Hirschmann, W. K. Hofmann, R. D. Siciliano, B. Steinke, and J. G. Wechsler. "Aplastic Crisis as a Complication of Congenital Dyserythropoietic Anemia Type II." Acta Haematologica 117, no. 2 (November 24, 2006): 115–18. http://dx.doi.org/10.1159/000097360.

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17

Iolascon, A., S. Perrotta, and E. Miraglia Del Giudice. "CLINICAL AND MOLECULAR ASPECTS OF CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II 27." Pediatric Research 41, no. 5 (May 1997): 740. http://dx.doi.org/10.1203/00006450-199705000-00046.

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18

Iolascon, A., J. Delaunay, S. Wickramaisinghe, H. Heimpel, S. Perrotta, E. Miraglia Del Giudice, and R. Carbone. "UPDATE ON THE EUROPEAN CONSORTIUM FOR CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II." Pediatric Research 45, no. 6 (June 1999): 943. http://dx.doi.org/10.1203/00006450-199906000-00273.

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19

TAMURA, Hirokazu, Go MATSUMOTO, Yukihiro ITAKURA, Hiroaki TERAI, Kenji IKEBUCHI, Tetsuya MITARAI, and Kazuo ISODA. "A Case of Congenital Dyserythropoietic Anemia Type II Associated with Hemochromatosis." Internal Medicine 31, no. 3 (1992): 380–84. http://dx.doi.org/10.2169/internalmedicine.31.380.

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20

Denecke, Jonas, and Thorsten Marquardt. "Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): Where are we now?" Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1792, no. 9 (September 2009): 915–20. http://dx.doi.org/10.1016/j.bbadis.2008.12.005.

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21

Koduri, Prasad Rao, and Swarnalatha Gowrishankar. "Congenital dyserythropoietic anemia type II with a positive sucrose hemolysis test." American Journal of Hematology 71, no. 1 (September 2002): 64–66. http://dx.doi.org/10.1002/ajh.10179.

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22

Abali, Hüseyin, Ibrahim C. Haznedaroglu, Nilgün Sayinalp, Ali Kosar, Yahya Büyükasik, Düzgün Özatli, and Figen Batman. "Congenital Dyserythropoietic Anemia Type II in a Woman Presenting with Jaundice, Anemia, and Splenomegaly." Hematology 4, no. 4 (January 1999): 357–61. http://dx.doi.org/10.1080/10245332.1999.11746459.

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23

Lugassy, Gilles, Joseph Michaeli, Noam Harats, Eugene Libson, and Eliezer A. Rachmilewitz. "Paravertebral extramedullary hematopoiesis associated with improvement of anemia in congenital dyserythropoietic anemia type II." American Journal of Hematology 22, no. 3 (July 1986): 295–300. http://dx.doi.org/10.1002/ajh.2830220310.

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24

Dessy-Rodriguez, Mercedes, Sara Fañanas-Baquero, Veronica Venturi, Salvador Payan, Cristian Tornador, Gonzalo Hernández, Paola Bianchi, et al. "Lentiviral Gene Therapy for the Correction of Congenital Dyserythropoietic Anemia Type II." Blood 138, Supplement 1 (November 5, 2021): 1994. http://dx.doi.org/10.1182/blood-2021-152332.

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Abstract Congenital dyserythropoietic anemias (CDAs) are a group of inherited anemias that affect the development of the erythroid lineage. CDA type II is the most common one: it accounts for around 60% of all cases, and more than 600 cases have been reported so far. CDA II is caused by biallelic mutations in the SEC23B gene and is characterized by ineffective erythropoiesis with morphologic abnormalities of erythroblasts, hemolysis, and secondary iron overload, which is the most frequent complication. Patients usually suffer from variable degrees of jaundice, splenomegaly, and absolute reticulocyte count inadequate depending on the degree of anemia. Hydrops fetalis, aplastic crisis and gallstones are other associated clinical signs. CDA II bone marrow is characterized by the presence of more than 10% mature binucleated erythroblasts. Another distinctive feature of CDA II erythrocytes is hypoglycosylation of membrane proteins. The management of CDA II is generally limited to blood transfusion and iron chelation. Splenectomy has proved to reduce the number of transfusions in CDA II patients. However, allogenic hematopoietic stem cell transplant (HSCT) represents the only curative option for this disease. Autologous HSCT of genetically corrected cells will mean a definitive treatment for CDA II, overcoming the limitations of allogeneic HSCT, such as limited availability of HLA-matched donors, infections linked to immunosuppression or development of graft versus host disease. This strategy has been used to treat many inherited hematological diseases, including red blood cell diseases such as β-thalassemia, sickle cell disease or pyruvate kinase deficiency. Therefore, we have addressed a similar strategy to be applied to CDAII patients. Two different lentiviral vectors carrying either wild type or codon optimized versions of SEC23B cDNA (wtSEC23B LV or coSEC23B LV, respectively) under the control of human phosphoglycerate kinase promoter (PGK) have been developed. Taking advantage of a CDA II model, in which SEC23B knock-out was done in human hematopoietic progenitors through gene editing, we have determined the most effective SEC23B LV version and the most suitable multiplicity of infection (MOI) to compensate protein deficiency. SEC23B knock out human hematopoietic progenitors (CD34 + cells; 80% frame shift mutations; SEC23BKO) showed a sharp reduction in SEC23B protein level. Those SEC23BKO hematopoietic progenitors were transduced with both lentiviral vectors at MOIs ranged from 3 to 25. We observed that SEC23B protein reached physiological or even supraphysiological levels. In addition, the reduction in the number of erythroid colony forming units (CFUs) identified in SEC23BKO CD34 + cells, was partially restored in the LV transduced SEC23BKO progenitors. Significantly, we observed a clear correlation between the used MOI and the vector copy number (VCN) in the CFUs derived from transduced SEC23BKO CD34 + cells. Furthermore, SEC23BKO hematopoietic progenitors were subjected to an in vitro erythroid differentiation protocol. A sharp decrease in the cell growth throughout erythroid differentiation was observed in SEC23BKO condition. However, the transduction with any of SEC23B LVs at MOIs above 10 was able to recover cell expansion to values equal to wild type cells. Interestingly, total level of protein glycosylation during erythroid differentiation was enhanced after SEC23B LV transduction. Glycosylation level in wtSEC23B LV transduced SEC23BKO cells was most similar to the level in wild type cells. Then, we transduced peripheral blood-derived hematopoietic progenitors (PB-CD34 + cells) from a CDA II patient with wtSEC23B LV at MOI 25 and differentiated in vitro to erythroid cells. A complete restauration of SEC23B protein expression and a cell growth increase of wtSEC23B transduced CDAII was observed with vector copy numbers of 0.3 after 14 days under erythroid conditions. More importantly, we could find a decrease in the percentage of bi-/multinucleated erythroid cells generated in vitro after wtSEC23B LV transduction. In summary, SEC23B LV compensate the SEC23B deficiency in SEC23BKO and in CDAII hematopoietic progenitor cells, paving the way for gene therapy of autologous hematopoietic stem and progenitor cell as an alternative and feasible treatment for CDA II. Disclosures Bianchi: Agios pharmaceutics: Consultancy, Membership on an entity's Board of Directors or advisory committees. Sanchez: Bloodgenetics: Other: Co-Founder and promoter; UIC: Current Employment. Ramirez: VIVEBiotech: Current Employment. Segovia: Rocket Pharmaceuticals, Inc.: Consultancy, Research Funding. Quintana Bustamante: Rocket Pharmaceuticals, Inc.: Current equity holder in publicly-traded company.

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25

Bianchi, Paola, Elisa Fermo, Jennifer C. Eng, Jacob C. Ulirsch, Cristina Vercellati, Paola Braidotti, Gordon Hildick-Smith, et al. "Biallelic Mutations in PARP4 Are Linked to a Variant Form of Congenital Dyserythropoietic Anemia." Blood 126, no. 23 (December 3, 2015): 272. http://dx.doi.org/10.1182/blood.v126.23.272.272.

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Abstract Congenital dyserythropoietic anemia (CDA) type II is the most frequent type of congenital dyserythropoietic anemia; it is transmitted in an autosomal recessive fashion and is characterized by ineffective erythropoiesis, peripheral hemolysis, bi-multinuclearity in the erythroblasts, and hypoglycosylation of red blood cell (RBC) membrane proteins such as band 3. The disease is generally caused by biallelic mutations in the SEC23B gene. However, there are a small portion of patients with clinical and hematologic features of CDA II that are negative for mutations in SEC23B, suggesting that alternative etiologies for such disturbed erythropoiesis exist. We identified two siblings of Italian origin who had dyserythropoiesis with a chronic macrocytic anemia. Their parents were healthy with normal hematologic parameters. No history of consanguinity for at least three generations was noted. The affected siblings had anisopoikylocytosis on peripheral blood smear with stomatocytes (8-9%), spherocytes (4-5%), rare ovalocytes, and dacryocytes. RBCs osmotic fragility was increased but the red cells had normal eosin-5-maleimide (EMA)-binding. Serum ferritin and transferrin saturation were increased in only one sibling. Bone marrow morphology revealed erythroid hyperplasia (myeloid: erythroid ratio = 0.6) with binuclearity and megaloblastic changes, as well as occasional cytoplasmic bridging between cells at different stage of maturation; electron microscopy of bone marrow erythroblasts showed multiple membranes that ran parallel to the plasma membrane or that were grouped in stacked segments, possibly attributable to residual endoplasmic reticulum (ER) cisternae. SDS-PAGE analysis of RBC ghosts from both siblings demonstrated hypoglycosylation of band 3 and GLUT1, as well as residual residual Protein Disulphide Isomerase (PDI) positive ER remnants, as observed in classical CDA II cases. However, in contrast to CDAII, the Ham's test performed with 15 normal serum samples was negative, and no mutations were detected in the SEC23B gene. To uncover the underlying etiologies, whole-exome sequencing was conducted on all available family members. After filtering for common variants, only a single gene had biallelic mutations in the affected siblings, which were transmitted from the unaffected heterozygous parents. The identified mutations resided in the PARP4 gene, which encodes a poly-ADP ribose polymerase enzyme, and were predicted to be deleterious. We demonstrate that knockdown of PARP4 using shRNA in primary human erythroid progenitors results in impaired erythroid differentiation and increased apoptosis. In addition, morpholino-mediated knockdown of the PARP4 orthologue in the zebrafish resulted in dyserythropoiesis and anemia in developing embryos. Sequencing of PARP4 in additional rare cases of CDA II without an identified molecular basis will help to uncover the frequency and spectrum of PARP4 mutations leading to dyserythropoiesis. The finding of a new gene implicated in a similar type of CDA with features such as redundant ER membranes offers the potential for more mechanistic dissection of the role of both SEC23B and PARP4 in erythroid development and suggests that new insight can be gained into the underlying pathophysiology of both normal and disordered erythropoiesis through the study of such rare cases. Disclosures No relevant conflicts of interest to declare.

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26

Cazzola, M., and R. Invernizzi. "Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship." Haematologica 95, no. 5 (May 1, 2010): 693–95. http://dx.doi.org/10.3324/haematol.2009.021683.

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27

Bianchi, Paola, Elisa Fermo, Cristina Vercellati, Carla Boschetti, Wilma Barcellini, Alessandra Iurlo, Anna Paola Marcello, Pier Giorgio Righetti, and Alberto Zanella. "Congenital dyserythropoietic anemia type II (CDAII) is caused by mutations in theSEC23Bgene." Human Mutation 30, no. 9 (September 2009): 1292–98. http://dx.doi.org/10.1002/humu.21077.

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28

Ucci, G., A. Riccardi, P. D�rmer, M. Cazzola, and M. Danova. "Proliferation kinetics of bone marrow cells in congenital dyserythropoietic anemia type II." Blut 50, no. 4 (April 1985): 219–24. http://dx.doi.org/10.1007/bf00320298.

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29

Kostaridou, Stavroula, Sophia Polychronopoulou, Evangelos Premetis, Ioannis Papassotiriou, Alexandra Stamoulakatou, and Stavros Haidas. "Ineffective erythropoiesis underlies the clinical heterogeneity of congenital dyserythropoietic anemia type II (CDA II)." Pediatrics International 46, no. 3 (June 2004): 274–79. http://dx.doi.org/10.1111/j.1442-200x.2004.01892.x.

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30

Invernizzi, Rosangela. "Images from the Haematologica Atlas of Hematologic Cytology: congenital dyserythropoietic anemia type II." Haematologica 107, no. 8 (August 1, 2022): 1736. http://dx.doi.org/10.3324/haematol.2022.281481.

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31

Singleton, B., D. Bansal, N. Varma, R. Das, S. Naseem, U. N. Saikia, P. Malhotra, et al. "Homozygosity mapping reveals founderSEC23B-Y462C mutations in Indian congenital dyserythropoietic anemia type II." Clinical Genetics 88, no. 2 (November 22, 2014): 195–97. http://dx.doi.org/10.1111/cge.12527.

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32

Gangarossa, Simone, Vincenzo Romano, Emanuele Miraglia del Giudice, Siherio Perrotta, Achille Iolascon, and Gino Schiliro. "Congenital Dyserythropoietic Anemia Type II Associated with G6PD Seattle in a Sicilian Child." Acta Haematologica 93, no. 1 (1995): 36–39. http://dx.doi.org/10.1159/000204087.

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33

Punzo, Francesca, Aida M. Bertoli-Avella, Saverio Scianguetta, Fulvio Della Ragione, Maddalena Casale, Luisa Ronzoni, Maria D. Cappellini, Gianluca Forni, Ben A. Oostra, and Silverio Perrotta. "Congenital Dyserythropoietic Anemia Type II: molecular analysis and expression of the SEC23B Gene." Orphanet Journal of Rare Diseases 6, no. 1 (2011): 89. http://dx.doi.org/10.1186/1750-1172-6-89.

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34

Bouhours, J. F., D. Bouhours, and J. Delaunay. "Abnormal fatty acid composition of erythrocyte glycosphingolipids in congenital dyserythropoietic anemia type II." Journal of Lipid Research 26, no. 4 (April 1985): 435–41. http://dx.doi.org/10.1016/s0022-2275(20)34357-1.

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35

Dessy-Rodriguez, Mercedes, Sara Fañanas-Baquero, Veronica Venturi, Salvador Payán-Pernía, Cristian Tornador, Gonzalo Hernandez, Mayka Sanchez, José C. Segovia, and Oscar Quintana Bustamante. "Modelling Congenital Dyserythropoietic Anemia Type II through Gene Editing in Hematopoietic Stem and Progenitor Cells." Blood 136, Supplement 1 (November 5, 2020): 27. http://dx.doi.org/10.1182/blood-2020-139207.

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Congenital dyserythropoietic anemias (CDAs) are a group of inherited anemias that affect the development of the erythoid lineage. They are characterized by ineffective erythropoiesis with distinct morphologic abnormalities of erythroblasts, a degree of hemolysis, and secondary hemochromatosis. Patients usually present with congenital anemia, jaundice, splenomegaly, and an absolute reticulocyte count inadequate for the degree of anemia. CDA type II (CDAII) is the most frequent type. CDAII patients show anemia of variable degrees, and 20% are transfusion dependent. The most specific finding of CDAII marrow is the presence of more than 10% mature binucleated erythroblasts with two nuclei at the same erythroid maturation stage. Treatment of CDAII patients may involve blood transfusions, iron chelation therapy and splenectomy. The only described definitive therapy is allogeneic bone marrow transplantation, which implies additional side effects for these patients. Therefore, new therapeutic approaches are needed. CDA II is caused by mutations in the SEC23B gene. SEC23B is part of coat protein complex II (COPII). COPII is involved in protein processing and Golgi-reticulum trafficking. However, how mutations in SEC23B cause CDA II is not known yet. Therefore, studying the role of SEC23B in the erythropoiesis will help to elucidate the underlying mechanism of CDA II and to develop new therapeutic approaches for the disease. We have developed a CDA II model in human cells through the introduction of genomic mutations in the gene using the CRISPR/Cas9 gene editing system. Different single guides RNAs (sgRNA) targeting the start of the coding sequence of human SEC23B gene were designed and tested in human erythroleukemia K562 cell line and in healthy human cord blood hematopoietic stem and progenitors (hCB-CD34+). The gene editing outcome at SEC23B gene was assessed at: i) genomic level through Sanger sequencing, Inference of CRISPR Edits (ICE) and Next-Generation Sequencing (NGS). ii) Protein level through Western-blot analysis. iii) Functional level through morphological analysis and erythroid differentiation either in vitro or in vivo in human hematopoietic chimeras in NOD.Cg-KitW-41JTyr+PrkdcscidIl2rgtm1Wjl/ThomJ (NBSGW) mice. K562 cells were nucleofected with three different sgRNAs, as ribonucleoprotein (RNP), independently or in combination. Afterwards, seventy five K562 clones were established from the cells nucleofected with the most efficient sgRNA or with the combination of the three sgRNAs. Forty per cent of them showed a high efficiency of knock-out (higher than 50% of alleles). Eight SEC23BKO clones were selected for further analysis. All of those eight clones showed a reduction in SEC23B protein and six of them had a lower proliferation than control cells and morphological abnormalities, such as presence of bi/multinucleated cells. Moreover, when CB-CD34+ cells were nucleofected with the most efficient sgRNA or with the combination of the three sgRNAs, up to 80% of knock-out efficiency and close to 90% reduction of SEC23B protein were obtained. Interestingly, when those gene edited hematopoietic progenitors were differentiated in vitro to erythroid cells, their terminal differentiation was hampered, with a reduce percentage of enucleated cells and the presence of high number of bi/multinucleated cells. Similarly, the in vivo erythroid differentiation of these gene edited progenitors two months after HSPC transplant into NBSGW mice showed again an impairment of terminal erythroid differentiation with an increment in the percentage of erythroid bi/multinucleated cells without altering other human hematopoietic lineages. In summary, CRISPR/Cas9 system has been used to model CDA II in a human cell line and in human hematopoietic progenitors through the knock-out of SEC23B gene. Our system reproduced the most relevant feature characteristic of CDA II pathology. This gene editing based CDA II model will allow the study of how mutations in SEC23B cause CDA II and the development of new therapeutic strategies to cure this disease. Disclosures Tornador: Bloodgenetics: Current Employment. Sanchez:Bloodgenetics: Current Employment. Segovia:Rocket Pharmaceuticals, Inc.: Consultancy, Current equity holder in publicly-traded company, Other: Consultant for Rocket Pharmaceuticals, Inc. and has licensed medicinal products and receives research funding and equity from the Company., Patents & Royalties, Research Funding.

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36

Perrotta, Silverio, Emanuele Miraglia del Giudice, Ruggiero Carbone, Veronica Servedio, Federico Schettini, Bruno Nobili, and Achille Iolascon. "Gilbert’s syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II)." Journal of Pediatrics 136, no. 4 (April 2000): 556–59. http://dx.doi.org/10.1016/s0022-3476(00)90026-x.

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37

Unal, Sule, Roberta Russo, Fatma Gumruk, Baris Kuskonmaz, Mualla Cetin, Tulin Sayli, Betul Tavil, Concetta Langella, Achille Iolascon, and Duygu Uckan Cetinkaya. "Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II." Pediatric Transplantation 18, no. 4 (April 12, 2014): E130—E133. http://dx.doi.org/10.1111/petr.12254.

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38

Bordi, Bruno, Maria Rosaria D'Amico, Roberto Guariglia, Gaetana Capobianco, Emilio Bordi, and Angelo Tirelli. "A Case of Congenital Dyserythropoietic Anemia Type II, Gilbert's Syndrome and Malleolar Trophic Ulcers." Hematology 7, no. 3 (January 2002): 197–99. http://dx.doi.org/10.1080/1024533021000008146.

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39

Schwarz, Klaus, Achille Iolascon, Fatima Verissimo, Nikolaus S. Trede, Wyatt Horsley, Wen Chen, Barry H. Paw, et al. "Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II." Nature Genetics 41, no. 8 (June 28, 2009): 936–40. http://dx.doi.org/10.1038/ng.405.

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40

Russo, Roberta, Immacolata Andolfo, Francesco Manna, Gianluca De Rosa, Luigia De Falco, Antonella Gambale, Mariasole Bruno, et al. "Increased levels of ERFE-encoding FAM132B in patients with congenital dyserythropoietic anemia type II." Blood 128, no. 14 (October 6, 2016): 1899–902. http://dx.doi.org/10.1182/blood-2016-06-724328.

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41

Singh, Khaidem Ibochouba, Jigme Tenzing Shartsho, Waikhom Ruhini Kumar Singh, Raj Kumari Tamphasana Devi, and Ahongshangbam Meina Singh. "Congenital dyserythropoietic anemia type II — a case report of two siblings in a family." Indian Journal of Hematology and Blood Transfusion 23, no. 3-4 (December 2007): 116–18. http://dx.doi.org/10.1007/s12288-008-0011-1.

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42

Chrobák, Ladislav. "Successful Treatment of Iron Overload with Phlebotomies in Two Siblings with Congenital Dyserythropoietic Anemia – Type II (CDA-II)." Acta Medica (Hradec Kralove, Czech Republic) 49, no. 3 (2006): 193–95. http://dx.doi.org/10.14712/18059694.2017.131.

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Successful treatment of iron overload by phlebotomies has been reported in two splenectomized siblings with congenital dyserythropoietic anemia – type II (CDA-II). In both patients 400 ml of blood were withdrawn every month. During three years 12 200 ml of blood were removed. The serum ferritin levels decreased from 1450.4 μg/L and 1131.7 μg/L to 447 μg/L and 457 μg/l, respectively. The transferrin saturation dropped from 0.99 at the start of the therapy to 0.64 and 0.86, respectively. The values of Hb, Hct, erythrocyte counts and MCV did not change as well as did not change reticulocyte counts, reticulocyte index, and RDW. Both patients tolerated repeated phlebotomies well. The decrease of bilirubin and normal values of haptoglobin might be the concequence of diminished destruction of erythrocytes and their precursors. Our observation confirms that phlebotomies can be used with success in CDA patients with mild anemia as treatment modality of iron overload.

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43

Zdebska, E., M. Adamczyk-Popławska, and J. Kościelak. "Glycophorin A in two patients with congenital dyserythropoietic anemia type I and type II is partly unglycosylated." Acta Biochimica Polonica 47, no. 3 (September 30, 2000): 773–79. http://dx.doi.org/10.18388/abp.2000_3995.

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Glycophorins A from erythrocyte membranes of two patients with congenital dyserythropoietic anemia type I and type II (CDA type I and II) were analyzed for carbohydrate molar composition employing a modification of the recently published method that allowed simultaneous determination of carbohydrates and protein in electrophoretic bands of glycoproteins separated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (Zdebska & Kościelak, 1999, Anal Biochem., 275, 171-179). The modification involved a preliminary extraction of erythrocyte membranes with aqueous phenol, subsequent electrophoresis and analysis of the extracted glycophorins rather than electrophoresis and analysis of the glycophorin from intact erythrocyte membranes. The results showed a large deficit of N-acetylgalactosamine, galactose, and sialic acid residues in glycophorin A from patients with CDA type I and type II amounting to about 45% and 55%, respectively. The results strongly suggest that glycophorin A in these patients is partly unglycosylated with respect to O-linked glycans. In addition, glycophorin A from erythrocytes of a patient with CDA II but not CDA I exhibited a significant deficit of mannose and N-acetylglucosamine suggesting that its N-glycosylation site was also partly unglycosylated.

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44

Ozcan, Alper, Turkan Patiroglu, Hamit Acer, Hakan Gumus, Serkan Senol, Musa Karakukcu, Mehmet A. Ozdemir, and Ekrem Unal. "Fibromuscular Dysplasia Complicated With Cerebral Stroke in a Child With Congenital Dyserythropoietic Anemia Type II." Journal of Pediatric Hematology/Oncology 38, no. 8 (November 2016): e333-e335. http://dx.doi.org/10.1097/mph.0000000000000676.

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45

Satchwell, T. J., S. Pellegrin, P. Bianchi, B. R. Hawley, A. Gampel, K. E. Mordue, A. Budnik, et al. "Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stages of erythropoiesis." Haematologica 98, no. 11 (August 9, 2013): 1788–96. http://dx.doi.org/10.3324/haematol.2013.085522.

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46

Greiner, Timothy C., C. Patrick Burns, Fred R. Dick, Kathleen M. Henry, and Ijaz Mahmood. "Congenital Dyserythropoietic Anemia Type II Diagnosed in a 69-Year-Old Patient with Iron Overload." American Journal of Clinical Pathology 98, no. 5 (November 1, 1992): 522–25. http://dx.doi.org/10.1093/ajcp/98.5.522.

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47

Kedar, Prabhakar, Vaishali Parmar, Rati Devendra, Vinod Gupta, Prashant Warang, and Manisha Madkaikar. "Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations." Annals of Hematology 96, no. 12 (September 7, 2017): 2135–39. http://dx.doi.org/10.1007/s00277-017-3116-5.

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48

Russo, Roberta, Concetta Langella, Maria Rosaria Esposito, Antonella Gambale, Francesco Vitiello, Fara Vallefuoco, Torben Ek, Elizabeth Yang, and Achille Iolascon. "Hypomorphic mutations of SEC23B gene account for mild phenotypes of congenital dyserythropoietic anemia type II." Blood Cells, Molecules, and Diseases 51, no. 1 (June 2013): 17–21. http://dx.doi.org/10.1016/j.bcmd.2013.02.003.

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49

Remacha, Angel F., Isabel Badell, Núria Pujol-Moix, Juan Parra, Eduardo Muñiz-Diaz, Gemma Ginovart, M. Pilar Sardà, Angel Hernández, Elisenda Moliner, and Montserrat Torrent. "Hydrops fetalis–associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation." Blood 100, no. 1 (July 1, 2002): 356–58. http://dx.doi.org/10.1182/blood-2001-12-0351.

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Abstract Hydrops fetalis is rarely caused by congenital dyserythropoietic anemia (CDA). We report a patient with hydrops fetalis as a result of severe anemia. This patient needed intrauterine transfusions from 21 weeks of gestation until birth. The hematologic study showed an atypical CDA (hydrops fetalis–associated CDA) characterized by features resembling CDA type II, but negative acidified serum lysis test (HEMPAS negative). The patient was regularly transfused for a year, after which an allogeneic bone marrow transplantation (BMT) from an HLA-identical sibling was successfully carried out. His actual hemoglobin is 127 g/L, and he has not received transfusions for more than a year. In conclusion, intrauterine transfusions and BMT could cure an otherwise lethal atypical CDA.

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50

Zaninoni, Anna, Roberta Russo, Roberta Marra, Elisa Fermo, Immacolata Andolfo, Anna Paola Marcello, Dario Consonni, et al. "Evaluation of the Main Regulators of Systemic Iron Homeostasis in Pyruvate Kinase Deficiency." Blood 138, Supplement 1 (November 5, 2021): 1993. http://dx.doi.org/10.1182/blood-2021-151635.

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Abstract Iron loading anemias are characterized by ineffective erythropoiesis and iron overload. This group of anemias includes thalassemia syndromes, congenital dyserythropoietic anemias (CDA), and some forms of congenital hemolytic anemias. Among them pyruvate kinase deficiency (PKD) has been shown to develop iron overload also in absence of transfusions suggesting dyserythropoietic features. Moreover, severe forms can be misdiagnosed as CDA due to bone marrow abnormalities and ineffective erythropoiesis further supporting this evidences. The hormone erythroferrone (hERFE) is produced by erythroblasts in response to erythropoietin (EPO), and acts by suppressing hepcidin, thereby increasing iron absorption and mobilisation for erythropoiesis demand. The ERFE-hepcidin axis seems to play a crucial role in the pathogenesis of these disorders; an increased erythroferrone release by immature erythroid cells results in hepcidin suppression and secondary iron overload that could finally results in ineffective erythropoiesis and anemia. To investigate the pathophysiological basis of iron overload in PKD, we analysed the levels of hERFE, EPO, hepcidin, and soluble transferrin receptor (sTFR) in a large group of 41 PKD patients equally distributed by gender, age and severity. The results were analysed in comparison with two groups of patients affected by hemolytic anemia with overt dyserythropoiesis (42 patients with CDA type II) and with congenital hemolytic anemia due to RBC membrane defects (51 patients with hereditary spherocytosis [HS]), respectively. Demographic, hematologic, and biochemical features of the three groups of patients are reported in the table. Among the PKD patients, 18/41 were <18 yrs, median Hb level at the time of the study was 9.05g/dL (range 5.5-14.5), 12 underwent splenectomy, 28 ever received at least three transfusions their life, 14 of them transfusion dependent (>6 tx/yrs). Mean ferritin levels at the time of the study were 546 ng/ml (range 59-4990), 15/41 patients requiring chelation therapy for iron overload developed also in absence of transfusions. As expected, CDAII patients showed decreased hepcidin levels (3.74 ng/mL; n.v. 17.25, P<0.001) associated with increased erythropoietin (62.7 IU/L, n.v. 6.5, P=0.01) and hERFE (24.8 ng/mL, n.v. 1, P<0.0001). On the contrary, HS showed increased hepcidin, with less marked increased of ERFE (9.9 ng/mL, P=0.02) and EPO (36.4IU/L, P=0.005). In PKD patients we observed decreased hepcidin levels (7.15 ng/mL, P=0.03)), increased hERFE (18ng/mL, P<0.0001) and EPO (75.6 IU/L, P=0.009). Instead, sTFR was equally increased in the three groups of patients (Figure). Interestingly, by comparing the three groups of patients, PKD showed dyserythropoietic features as evidenced by the observation of intermediate values between HS and CDAII of hepcidin (P=0.007 PKD v CDAII and P=0.0002 PKD vs HS), hEFRE, and sTFR. This study provides the first analysis of the main regulators of systemic iron homeostasis in PK deficiency compared either with the model of a structural RBC defect (HS) or with the typical model of dyserythropoietic anemia with ineffective erythropoiesis, such as CDAII. These data provide evidence of the dyserythropoietic features of PK deficiency, underlining the need of accurate diagnosis and paving the way of novel therapeutic approaches in PK deficiency. Zaninoni A. and Russo R. equally contributed to the study Figure 1 Figure 1. Disclosures Fattizzo: Kira: Speakers Bureau; Alexion: Speakers Bureau; Novartis: Speakers Bureau; Momenta: Honoraria, Speakers Bureau; Annexon: Consultancy; Apellis: Speakers Bureau; Amgen: Honoraria, Speakers Bureau. Barcellini: Incyte: Membership on an entity's Board of Directors or advisory committees; Novartis: Honoraria; Bioverativ: Membership on an entity's Board of Directors or advisory committees; Agios: Honoraria, Research Funding; Alexion Pharmaceuticals: Honoraria. Iolascon: Bluebird Bio: Other: Advisory Board; Celgene: Other: Advisory Board. Bianchi: Agios pharmaceutics: Consultancy, Membership on an entity's Board of Directors or advisory committees.

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