Research & Literature

KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome.

Magor GW, Tallack MR, Gillinder KR, et al.

Blood 2015; (125(15)):2405-17 doi:10.1182/blood-2014-08-590968.

Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations.

Waye JS, Eng B

International journal of laboratory hematology 2015; (37 Suppl 1()):78-84 doi:10.1111/ijlh.12356.

A pediatrician's practical guide to diagnosing and treating hereditary spherocytosis in neonates.

Christensen RD, Yaish HM, Gallagher PG

Pediatrics 2015; (135(6)):1107-14 doi:10.1542/peds.2014-3516.

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.

Can mutations in the gene encoding transcription factor EKLF (Erythroid Krüppel-Like Factor) protect us against infectious and parasitic diseases?

Mikołajczyk K, Kaczmarek R, Czerwiński M

Postepy higieny i medycyny doswiadczalnej (Online) 2016; (70(0)):1068-1086 doi:10.5604/17322693.1221384.

Proton pump inhibitors use suppresses iron absorption in congenital dyserythropoietic anemia.

Shalev H, Quider AA, Harosh MB, Kapelushnik J

Pediatric hematology and oncology 2016; (33(7-8)):457-461 doi:10.1080/08880018.2016.1247392.

[Acute splenic sequestration in children with sickle cell disease--an overview].

Larsson F, Åhlin A, Marshall Heyman M, Abrahamsson J

Lakartidningen 2016; (113()).

An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations.

Lee HH, Mak AS, Kou KO, et al.

Hemoglobin 2016; (40(6)):431-434 doi:10.1080/03630269.2016.1267017.

Recommendations regarding splenectomy in hereditary hemolytic anemias.

Iolascon A, Andolfo I, Barcellini W, et al.

Haematologica 2017; (102(8)):1304-1313 doi:10.3324/haematol.2016.161166.

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.

Human Parvovirus B19 in Children with Sickle Cell Disease; Poking the Spleen.

Saad AA, Beshlawi I, Al-Rawas AH, et al.

Oman medical journal 2017; (32(5)):425-428 doi:10.5001/omj.2017.79.

A Case of Congenital Dyserythropoeitic Anemia Type IV Caused by E325K Mutation in Erythroid Transcription Factor KLF1.

Ortolano R, Forouhar M, Warwick A, Harper D

Journal of pediatric hematology/oncology 2018; (40(6)):e389-e391 doi:10.1097/MPH.0000000000001042.

KLF1 E325K-associated Congenital Dyserythropoietic Anemia Type IV: Insights Into the Variable Clinical Severity.

Ravindranath Y, Johnson RM, Goyette G, et al.

Journal of pediatric hematology/oncology 2018; (40(6)):e405-e409 doi:10.1097/MPH.0000000000001056.

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.

Ceftriaxone-induced drug reaction mimicking acute splenic sequestration crisis in a child with hemoglobin SC disease.

Van Buren NL, Gorlin JB, Reed RC, et al.

Transfusion 2018; (58(4)):879-883 doi:10.1111/trf.14536.

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.

Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.

Aydin Koker S, Karapinar TH, Oymak Y, et al.

Journal of pediatric hematology/oncology 2018; (40(7)):e421-e423 doi:10.1097/MPH.0000000000001207.

Clinical and genetic features of congenital dyserythropoietic anemia (CDA).

Moreno-Carralero MI, Horta-Herrera S, Morado-Arias M, et al.

European journal of haematology 2018; (101(3)):368-378 doi:10.1111/ejh.13112.

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.

Genetic disarray follows mutant KLF1-E325K expression in a congenital dyserythropoietic anemia patient.

Varricchio L, Planutis A, Manwani D, et al.

Haematologica 2019; (104(12)):2372-2380 doi:10.3324/haematol.2018.209858.

KLF1 mutation E325K induces cell cycle arrest in erythroid cells differentiated from congenital dyserythropoietic anemia patient-specific induced pluripotent stem cells.

Kohara H, Utsugisawa T, Sakamoto C, et al.

Experimental hematology 2019; (73()):25-37.e8 doi:10.1016/j.exphem.2019.03.001.

A Differential Approach to an Uncommon Case of Acute Anemia in a Child With Sickle Cell Disease.

Srinivasan A, Gourishankar A

Global pediatric health 2019; (6()):2333794X19848674 doi:10.1177/2333794X19848674.

Corrupted DNA-binding specificity and ectopic transcription underpin dominant neomorphic mutations in KLF/SP transcription factors.

Ilsley MD, Huang S, Magor GW, et al.

BMC genomics 2019; (20(1)):417 doi:10.1186/s12864-019-5805-z.

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.

Hepcidin and Anemia: A Tight Relationship.

Pagani A, Nai A, Silvestri L, Camaschella C

Frontiers in physiology 2019; (10()):1294 doi:10.3389/fphys.2019.01294.

A Krüppel-like factor 1 (KLF1) Mutation Associated with Severe Congenital Dyserythropoietic Anemia Alters Its DNA-Binding Specificity.

Kulczynska K, Bieker JJ, Siatecka M

Molecular and cellular biology 2020; (40(5)) doi:10.1128/MCB.00444-19.

A family affair-Severe fetal and neonatal hemolytic anemia due to novel alpha-spectrin mutations in two siblings.

Donepudi R, Westerfield L, Stonecipher A, et al.

American journal of medical genetics. Part A 2020; (182(3)):561-564 doi:10.1002/ajmg.a.61455.

A Very Rare Congenital Dyserythropoietic Anemia Variant-Type IV in a Patient With a Novel Mutation in the KLF1 Gene: A Case Report and Review of the Literature.

Belgemen-Ozer T, Gorukmez O

Journal of pediatric hematology/oncology 2020; (42(6)):e536-e540 doi:10.1097/MPH.0000000000001727.

Hemoglobin switching in mice carrying the Klf1 variant.

Korporaal A, Gillemans N, Heshusius S, et al.

Haematologica 2021; (106(2)):464-473 doi:10.3324/haematol.2019.239830.

[Hereditary hemolytic anemia in newborns: clinical significance of genetic diagnosis].

Ohga S, Ishimura M, Eguchi K, et al.

[Rinsho ketsueki] The Japanese journal of clinical hematology 2020; (61(5)):484-490 doi:10.11406/rinketsu.61.484.

Congenital dyserythropoietic anemias.

Iolascon A, Andolfo I, Russo R

Blood 2020; (136(11)):1274-1283 doi:10.1182/blood.2019000948.

Low frequency of parental mosaicism in de novo COL4A5 mutations in X-linked Alport syndrome.

Helle OMB, Pedersen TH, Ousager LB, et al.

Molecular genetics & genomic medicine 2020; (8(10)):e1452 doi:10.1002/mgg3.1452.

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.

Severe anemia caused by dominant mutations in Krüppel-like factor 1 (KLF1).

Kulczynska-Figurny K, Bieker JJ, Siatecka M

Mutation research. Reviews in mutation research 2020; (786()):108336 doi:10.1016/j.mrrev.2020.108336.

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.

Ineffective erythropoiesis and its treatment.

Cazzola M

Blood 2022; (139(16)):2460-2470 doi:10.1182/blood.2021011045.

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.

Parvovirus b19 infection in children with sickle cell disease, watch out for splenomegaly! A case report.

de la Hoz JA, Otones LL, Sáenz MH, Martín MJR

African health sciences 2022; (22(1)):598-601 doi:10.4314/ahs.v22i1.69.

[Congenital hemolytic anemias due to erythrocyte membrane and enzyme defects].

Génevaux F, Bertsch A, Wiederer L, Eber S

Deutsche medizinische Wochenschrift (1946) 2022; (147(19)):1266-1276 doi:10.1055/a-1767-8423.

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.

Congenital dyserythropoietic anaemia type II in a teenager presenting with severe anaemia.

Pinto CJ, Narayanaswamy MH, Khatawkar AV, Poornima J

BMJ case reports 2023; (16(2)) doi:10.1136/bcr-2022-251756.

Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature.

Deguise MO, Blain S, Simpson E, et al.

Pediatric blood & cancer 2023; (70(5)):e30245 doi:10.1002/pbc.30245.

A novel human cellular model of CDA IV enables comprehensive analysis revealing the molecular basis of the disease phenotype.

Ferrer-Vicens I, Ferguson DCJ, Wilson MC, et al.

Blood 2023; (141(25)):3039-3054 doi:10.1182/blood.2022018735.

Modelling the erythroblastic island niche of dyserythropoietic anaemia type IV patients using induced pluripotent stem cells.

May A, Ventura T, Fidanza A, et al.

Frontiers in cell and developmental biology 2023; (11()):1148013 doi:10.3389/fcell.2023.1148013.

New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II.

Musri MM, Venturi V, Ferrer-Cortès X, et al.

International journal of molecular sciences 2023; (24(12)) doi:10.3390/ijms24129935.

Acute splenic sequestration in HbSS: observations from the Jamaican birth cohort.

Serjeant G, Mason K, Hambleton I, Serjeant B

Archives of disease in childhood 2024; (109(2)):100-105 doi:10.1136/archdischild-2023-326173.

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.

Erythroid Krüppel-Like Factor (KLF1): A Surprisingly Versatile Regulator of Erythroid Differentiation.

Bieker JJ, Philipsen S

Advances in experimental medicine and biology 2024; (1459()):217-242 doi:10.1007/978-3-031-62731-6_10.

Hereditary disorders of ineffective erythropoiesis.

King RA, Khoriaty R

Blood cells, molecules & diseases 2025; (111()):102910 doi:10.1016/j.bcmd.2025.102910.

KLF1 coordinates specialized transcriptional networks required to maintain the integrity of terminal erythropoiesis.

Gnanapragasam MN, Jiang P, Dhara AR, et al.

Journal of cell science 2025; (138(21)) doi:10.1242/jcs.264036.

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.

KLF1 mutation-associated congenital dyserythropoietic anemia type IV: a case report and literature review.

Lu K, He Y, Nong S, et al.

Frontiers in pediatrics 2026; (14()):1854766 doi:10.3389/fped.2026.1854766.

Interplay between fibroblast growth factor 9 (FGF9) and CD44 underlies 46,XY disorders of sex development in Kruppel-like factor 1 (KLF-1)-E325K-associated congenital dyserythropoietic anaemia (CDA-IV).

Ravindranath Y, Craig DB, Parajuli P, et al.

British journal of haematology 2026; (209(4)):1574-1585 doi:10.1111/bjh.70760.

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.