Research & Literature

Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease.

Gorman GS, Elson JL, Newman J, et al.

Neuromuscular disorders : NMD 2015; (25(7)):563-6.

Acute Liver Failure in a Pediatric Patient with Congenital Dysery-Thropoietic Anemia Type I Treated with Deferasirox.

Ling G, Pinsk V, Golan-Tripto I, Ling E

Hematology reports 2015; (7(3)):5987 doi:10.4081/hr.2015.5987.

Diagnosis and management of congenital dyserythropoietic anemias.

Gambale A, Iolascon A, Andolfo I, Russo R

Expert review of hematology 2016; (9(3)):283-96 doi:10.1586/17474086.2016.1131608.

Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I.

Shalev H, Al-Athamen K, Levi I, et al.

European journal of haematology 2017; (98(1)):13-18 doi:10.1111/ejh.12778.

New Codanin-1 Gene Mutations in a Italian Patient with Congenital Dyserythropoietic Anemia Type I and Heterozygous Beta-Thalassemia.

D'Alcamo E, Agrigento V, Pitrolo L, et al.

Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion 2016; (32(Suppl 1)):278-81 doi:10.1007/s12288-015-0633-z.

Morphological features of congenital dyserythropoietic anemia type I: The role of electron microscopy in diagnosis.

Resnitzky P, Shaft D, Shalev H, et al.

European journal of haematology 2017; (99(4)):366-371 doi:10.1111/ejh.12931.

Successful management of transfusion-dependent congenital dyserythropoietic anemia type 1b with interferon alfa-2a.

Rathe M, Møller MB, Greisen PW, Fisker N

Pediatric blood & cancer 2018; (65(3)) doi:10.1002/pbc.26866.

An ICET- A survey on Hypoparathyroidism in Patients with Thalassaemia Major and Intermedia: A preliminary report.

De Sanctis V, Soliman AT, Canatan D, et al.

Acta bio-medica : Atenei Parmensis 2018; (88(4)):435-444 doi:10.23750/abm.v88i4.6837.

Multi-gene panel testing improves diagnosis and management of patients with hereditary anemias.

Russo R, Andolfo I, Manna F, et al.

American journal of hematology 2018; (93(5)):672-682 doi:10.1002/ajh.25058.

Fetal presentation of congenital dyserythropoietic anemia type 1 with novel compound heterozygous CDAN1 mutations.

Meznarich JA, Draper L, Christensen RD, et al.

Blood cells, molecules & diseases 2018; (71()):63-66 doi:10.1016/j.bcmd.2018.03.002.

Fetal-onset Congenital Dyserythropoietic Anemia Type 1 due to a Novel Mutation With Severe Iron Overload and Severe Cholestatic Liver Disease.

Chin HL, Lee LY, Koh PL

Journal of pediatric hematology/oncology 2019; (41(1)):e51-e53 doi:10.1097/MPH.0000000000001151.

Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.

Shefer Averbuch N, Steinberg-Shemer O, Dgany O, et al.

European journal of haematology 2018; (101(3)):297-304 doi:10.1111/ejh.13097.

Whole-exome analysis to detect congenital hemolytic anemia mimicking congenital dyserythropoietic anemia.

Hamada M, Doisaki S, Okuno Y, et al.

International journal of hematology 2018; (108(3)):306-311 doi:10.1007/s12185-018-2482-7.

The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

Roy NBA, Babbs C

British journal of haematology 2019; (185(3)):436-449 doi:10.1111/bjh.15817.

Neonatal cholestasis and hepatosplenomegaly caused by congenital dyserythropoietic anemia type 1: A case report.

Jaramillo C, Ermarth AK, Putnam AR, Deneau M

World journal of hepatology 2019; (11(5)):477-482 doi:10.4254/wjh.v11.i5.477.

Characterization of Two Cases of Congenital Dyserythropoietic Anemia Type I Shed Light on the Uncharacterized C15orf41 Protein.

Russo R, Marra R, Andolfo I, et al.

Frontiers in physiology 2019; (10()):621 doi:10.3389/fphys.2019.00621.

Hematopoietic Stem Cell Transplantation in Congenital Dyserythropetic Anemia Type II: A Case Report and Review of the Literature.

Uygun V, Russo R, Karasu G, et al.

Journal of pediatric hematology/oncology 2020; (42(6)):e507-e510 doi:10.1097/MPH.0000000000001612.

Congenital dyserythropoiesis anemia type Ia with a novel CDAN1 mutation diagnosed by whole exome sequencing.

Lin PC, Cheng CN, Huang HY, et al.

Molecular genetics & genomic medicine 2020; (8(5)):e1220 doi:10.1002/mgg3.1220.

Treatment of transfusion-dependent congenital dyserythropoietic anemia Type I patients with pegylated interferon alpha-2a.

Abu-Quider A, Asleh M, Shalev H, et al.

European journal of haematology 2020; (105(2)):216-222 doi:10.1111/ejh.13428.

Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1).

Abramovich-Yoffe H, Shalev A, Barrett O, et al.

International journal of cardiology 2020; (317()):96-102 doi:10.1016/j.ijcard.2020.05.092.

Chronic fatigue in myelodysplastic syndromes: Looking beyond anemia.

Brownstein CG, Daguenet E, Guyotat D, Millet GY

Critical reviews in oncology/hematology 2020; (154()):103067 doi:10.1016/j.critrevonc.2020.103067.

Validation of the Severity of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome by Other Measures than History: Activity Bracelet, Cardiopulmonary Exercise Testing and a Validated Activity Questionnaire: SF-36.

van Campen CLMC, Rowe PC, Visser FC

Healthcare (Basel, Switzerland) 2020; (8(3)) doi:10.3390/healthcare8030273.

Hepatic and cardiac iron load as determined by MRI T2* in patients with congenital dyserythropoietic anemia type I.

Asleh M, Levitas A, Daniel S, et al.

Annals of hematology 2020; (99(11)):2507-2512 doi:10.1007/s00277-020-04263-4.

Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

Niss O, Lorsbach RB, Berger M, et al.

Blood cells, molecules & diseases 2021; (87()):102534 doi:10.1016/j.bcmd.2020.102534.

Severe Presentation of Congenital Hemolytic Anemias in the Neonatal Age: Diagnostic and Therapeutic Issues.

Cortesi V, Manzoni F, Raffaeli G, et al.

Diagnostics (Basel, Switzerland) 2021; (11(9)) doi:10.3390/diagnostics11091549.

[Whole exome sequencing analysis of compound heterozygous variants of CDAN1 gene in a Chinese family with non-immune hydrops fetalis].

Wang Y, Li Q, Sun X, et al.

Nan fang yi ke da xue xue bao = Journal of Southern Medical University 2021; (41(12)):1899-1903 doi:10.12122/j.issn.1673-4254.2021.12.21.

Hematopoietic Cell Transplantation for Congenital Dyserythropoietic Anemia: A Report from the Pediatric Transplant and Cellular Therapy Consortium.

Rangarajan HG, Stanek JR, Abdel-Azim H, et al.

Transplantation and cellular therapy 2022; (28(6)):329.e1-329.e9 doi:10.1016/j.jtct.2022.03.007.

[Differential diagnosis of inherited bone marrow failure syndromes in erythrocyte disorders].

Hama A

[Rinsho ketsueki] The Japanese journal of clinical hematology 2022; (63(6)):590-599 doi:10.11406/rinketsu.63.590.

New Entity-Thalassemic Endocrine Disease: Major Beta-Thalassemia and Endocrine Involvement.

Carsote M, Vasiliu C, Trandafir AI, et al.

Diagnostics (Basel, Switzerland) 2022; (12(8)) doi:10.3390/diagnostics12081921.

Metabolic Bone Disease in Children With Transfusion-Dependent Thalassemia.

Handattu K, Aroor S, Kini P, et al.

Indian pediatrics 2022; (59(12)):920-923.

Activity monitoring and patient-reported outcome measures in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome patients.

Rekeland IG, Sørland K, Bruland O, et al.

PloS one 2022; (17(9)):e0274472 doi:10.1371/journal.pone.0274472.

Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I.

Yozgat AK, Erdem AY, Kaçar D, et al.

The Turkish journal of pediatrics 2022; (64(5)):951-955.

[Diagnosis and treatment of iron overload].

Ruivard M, Lobbes H

La Revue de medecine interne 2023; (44(12)):656-661 doi:10.1016/j.revmed.2023.07.002.

Congenital Dyserythropoietic Anemia Type I: A Rare Case Report.

Nagar V, Patil NJ

Cureus 2023; (15(11)):e48594 doi:10.7759/cureus.48594.

Unveiling the genetic landscape of suspected congenital dyserythropoietic anemia type I: A retrospective cohort study of 36 patients.

Marra R, Nostroso A, Rosato BE, et al.

American journal of hematology 2024; (99(8)):1511-1522 doi:10.1002/ajh.27350.

Congenital Dyserythropoietic Anemia Type II With Myelofibrosis in an Adult Patient: A Report of a Rare Case With a Brief Review.

Shemawat S, Bansal S, Mathur A, et al.

Cureus 2024; (16(4)):e58515 doi:10.7759/cureus.58515.

Mechanism of ASF1 engagement by CDAN1.

Sedor SF, Shao S

Nature communications 2025; (16(1)):2599 doi:10.1038/s41467-025-57950-z.

Severe Neonatal Anemia with Multi-Organ Failure, Extreme Placentomegaly, and Placental Megaloblastic Erythroblastosis as Features in Identifying Congenital Dyserythropoietic Anemia Type 1: A Case Report.

Roose O, Gengler C, Stoykova S, et al.

Neonatology 2025; (122(5)):557-560 doi:10.1159/000546794.

Increased Prevalence of Thromboembolic Events in Patients with Congenital Dyserythropoietic Anemia Type I.

Asleh M, Khalaila A, Eshel Y, et al.

Acta haematologica 2026; (149(3)):345-354 doi:10.1159/000547577.

Using Patient Feedback to Improve Treatment Outcomes for Patients with Congenital Dyserythropoietic Anaemia Type I Receiving Interferon Therapy.

Frey K, Brolih S, Scott C, et al.

Journal of clinical medicine 2026; (15(2)) doi:10.3390/jcm15020901.

Anemia-associated mutations disrupt the CDIN1-Codanin1 complex in inherited congenital dyserythropoietic anemia I (CDA-I) disease.

Stojaspal M, Brom T, Nečasová I, et al.

The FEBS journal 2026; (293(14)):4288-4305 doi:10.1111/febs.70421.

Association Between Iron Overload and Glucose Metabolism in Children and Youth with Transfusion-Dependent Beta Thalassemia: The Role of Chelation Therapy.

İncefidan İ, Kazancı EG, Güven D, Kara Ö

Mediterranean journal of hematology and infectious diseases 2026; (18(1)):e2026017 doi:10.4084/MJHID.2026.017.

CDIN1-Codanin-1 complex defective in congenital dyserythropoietic anaemia type I is an RNA nuclease.

Brolih S, Ali HS, Scott C, et al.

Nature communications 2026; (17(1)).

A novel homozygous C15ORF41 variant (c.251T > A; p.Val84Glu) causing congenital dyserythropoietic anemia type Ib in an Indian patient: molecular and structural evidence.

Kamble P, Dongerdiye R, More T, et al.

Molecular biology reports 2026; (53(1)).

Double Heterozygous CDAN1 Variants of Uncertain Significance Associated With a Phenotype Consistent With Congenital Dyserythropoietic Anemia Type 1.

Zablonski KG, Lachant NA, Perkins A, Archibald WJ

Case reports in hematology 2026; (2026()):8073716 doi:10.1155/crh/8073716.

Endocrine Complications in Patients with Congenital Dyserythropoietic Anemia: A Single-Center Cohort Study.

Gursoy G, Ünlütürk U, Karabulut E, Unal S

Hemoglobin 2026; 1-9 doi:10.1080/03630269.2026.2729185.