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Congenital dyserythropoietic anemia, type II(CDAN2)

MedGen UID:: 266296
•Concept ID:: C1306589
•: Disease or Syndrome

Synonyms:	CDA 2; CDAN2; Dyserythropoietic anemia, congenital type 2; DYSERYTHROPOIETIC ANEMIA, HEMPAS TYPE; HEMPAS anemia; Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum test'
SNOMED CT:	Congenital dyserythropoietic anemia, type II (68870007); Hereditary erythroblast multinuclearity with positive acid serum test (68870007); HEMPAS - hereditary erythroblast multinuclearity with positive acid serum test (68870007)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	SEC23B (20p11.23)

Monarch Initiative:	MONDO:0009134
OMIM®:	224100
Orphanet:	ORPHA98873

Definition

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones. [from ORDO]

Clinical features

From HPO

Cholelithiasis

MedGen UID:: 3039
•Concept ID:: C0008350
•: Disease or Syndrome

Hard, pebble-like deposits that form within the gallbladder.

See: Feature record | Search on this feature

Jaundice

MedGen UID:: 43987
•Concept ID:: C0022346
•: Sign or Symptom

Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.

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Reticulocytosis

MedGen UID:: 60089
•Concept ID:: C0206160
•: Finding

An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.

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Anemia of inadequate production

MedGen UID:: 95937
•Concept ID:: C0392708
•: Pathologic Function

A kind of anemia characterized by inadequate production of erythrocytes.

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Splenomegaly

MedGen UID:: 52469
•Concept ID:: C0038002
•: Finding

Abnormal increased size of the spleen.

See: Feature record | Search on this feature

Reduced level of N-acetylglucosaminyltransferase II

MedGen UID:: 867361
•Concept ID:: C4021725
•: Finding

An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.

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Endopolyploidy on chromosome studies of bone marrow

MedGen UID:: 871151
•Concept ID:: C4025624
•: Finding

An increase in the number of chromosome sets per cell in bone marrow cells.

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Abnormal cellular phenotype
- Endopolyploidy on chromosome studies of bone marrow
Abnormality of blood and blood-forming tissues
- Anemia of inadequate production
- Reticulocytosis
Abnormality of metabolism/homeostasis
- Reduced level of N-acetylglucosaminyltransferase II
Abnormality of the digestive system
- Cholelithiasis
- Jaundice
Abnormality of the immune system
- Splenomegaly

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Phenotypic abnormality
- Abnormality of blood and blood-forming tissues
  - Abnormal erythrocyte morphology
    - Anemia
      - Congenital anemia
        Congenital dyserythropoietic anemia
        Congenital dyserythropoietic anemia, type II

Follow this link to review classifications for Congenital dyserythropoietic anemia, type II in Orphanet.

Professional guidelines

PubMed

Molecular basis of congenital dyserythropoietic anemia type II and genotype-phenotype relationship.

Cazzola M, Invernizzi R
Haematologica 2010 May;95(5):693-5. doi: 10.3324/haematol.2009.021683. PMID: 20442439 Free PMC Article

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship.

Iolascon A, Russo R, Esposito MR, Asci R, Piscopo C, Perrotta S, Fénéant-Thibault M, Garçon L, Delaunay J
Haematologica 2010 May;95(5):708-15. Epub 2009 Dec 16 doi: 10.3324/haematol.2009.014985. PMID: 20015893 Free PMC Article

Successful treatment of iron overload with phlebotomies in two siblings with congenital dyserythropoietic anemia--type II (CDA-II).

Chrobák L
Acta Medica (Hradec Kralove) 2006;49(3):193-5. PMID: 17117609

See all (3)

Recent clinical studies

Etiology

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

Musri MM, Venturi V, Ferrer-Cortès X, Romero-Cortadellas L, Hernández G, Leoz P, Ricard Andrés MP, Morado M, Fernández Valle MDC, Beneitez Pastor D, Ortuño Cabrero A, Moreno Gamiz M, Senent Peris L, Perez-Valencia AI, Pérez-Montero S, Tornador C, Sánchez M
Int J Mol Sci 2023 Jun 9;24(12) doi: 10.3390/ijms24129935. PMID: 37373084 Free PMC Article

Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.

Unal S, Russo R, Gumruk F, Kuskonmaz B, Cetin M, Sayli T, Tavil B, Langella C, Iolascon A, Uckan Cetinkaya D
Pediatr Transplant 2014 Jun;18(4):E130-3. Epub 2014 Apr 12 doi: 10.1111/petr.12254. PMID: 24724984

Aplastic crisis as a complication of congenital dyserythropoietic anemia type II.

Heimpel H, Wilts H, Hirschmann WD, Hofmann WK, Siciliano RD, Steinke B, Wechsler JG
Acta Haematol 2007;117(2):115-8. Epub 2006 Nov 24 doi: 10.1159/000097360. PMID: 17127819

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.

Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, Griesshammer A, Marquardt T, Janka-Schaub G, Kron M, Kohne E
Blood 2003 Dec 15;102(13):4576-81. Epub 2003 Aug 21 doi: 10.1182/blood-2003-02-0613. PMID: 12933587

Transient anti-D in an Rh-positive patient with congenital dyserythropoietic anemia type II.

Krikler SH, Ferguson DJ, Akabutu JJ, Lomas CG
Transfusion 1984 Mar-Apr;24(2):169-70. doi: 10.1046/j.1537-2995.1984.24284173353.x. PMID: 6324425

See all (20)

Diagnosis

Images from the Haematologica Atlas of Hematologic Cytology: congenital dyserythropoietic anemia type II.

Invernizzi R
Haematologica 2022 Aug 1;107(8):1736. doi: 10.3324/haematol.2022.281481. PMID: 35912722 Free PMC Article

Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II.

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

Denecke J, Marquardt T
Biochim Biophys Acta 2009 Sep;1792(9):915-20. Epub 2008 Dec 25 doi: 10.1016/j.bbadis.2008.12.005. PMID: 19150496

Congenital dyserythropoietic anemia type II: molecular basis and clinical aspects.

Iolascon A, D'Agostaro G, Perrotta S, Izzo P, Tavano R, Miraglia del Giudice B
Haematologica 1996 Nov-Dec;81(6):543-59. PMID: 9009444

Congenital dyserythropoietic anemia, type II (HEMPAS).

Pati H, Arya LS, Puri S, Saraya AK
Indian Pediatr 1986 May;23(5):386-9. PMID: 3744513

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Therapy

Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.

Russo R, Marra R, Andolfo I, Manna F, De Rosa G, Rosato BE, Radhakrishnan K, Fahey M, Iolascon A
Am J Hematol 2020 Nov;95(11):1423-1426. Epub 2020 Aug 19 doi: 10.1002/ajh.25946. PMID: 32720728

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.

See all (2)

Prognosis

Congenital dyserythropoietic anemia type II in a newborn with a novel compound heterozygous mutation in the SEC23B: a case report and review of the literature.

Zheng J, Gao L, Liu H, Xiao P, Lu J, Li J, Wu S, Cheng S, Bian X, Du Z, Kong L, Hu S, Fan J
Int J Hematol 2024 Feb;119(2):210-214. Epub 2023 Dec 21 doi: 10.1007/s12185-023-03676-x. PMID: 38127226

Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II.

Chen S, Guo Z, Ye Y, Yang S, Huang G
Int J Hematol 2021 Sep;114(3):390-394. Epub 2021 Apr 29 doi: 10.1007/s12185-021-03155-1. PMID: 33914262

Distal limb anomalies in patients with congenital dyserythropoietic anemia.

Amir AZ, Horev G, Yacobovich J, Bennett M, Tamary H
Am J Med Genet A 2017 Feb;173(2):487-490. Epub 2016 Oct 19 doi: 10.1002/ajmg.a.38012. PMID: 27759939

Successful treatment of an infant with CDA type II by intrauterine transfusions and postnatal stem cell transplantation.

Braun M, Wölfl M, Wiegering V, Winkler B, Ertan K, Bald R, Schwarz K, Heimpel H, Eyrich M, Schlegel PG
Pediatr Blood Cancer 2014 Apr;61(4):743-5. Epub 2013 Oct 3 doi: 10.1002/pbc.24786. PMID: 24123799

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.

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Clinical prediction guides

Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.

Punzo F, Bertoli-Avella AM, Scianguetta S, Della Ragione F, Casale M, Ronzoni L, Cappellini MD, Forni G, Oostra BA, Perrotta S
Orphanet J Rare Dis 2011 Dec 30;6:89. doi: 10.1186/1750-1172-6-89. PMID: 22208203 Free PMC Article

Congenital dyserythropoietic anemia type II (CDAII/HEMPAS): where are we now?

Denecke J, Marquardt T
Biochim Biophys Acta 2009 Sep;1792(9):915-20. Epub 2008 Dec 25 doi: 10.1016/j.bbadis.2008.12.005. PMID: 19150496

Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation.

Transient anti-D in an Rh-positive patient with congenital dyserythropoietic anemia type II.

Krikler SH, Ferguson DJ, Akabutu JJ, Lomas CG
Transfusion 1984 Mar-Apr;24(2):169-70. doi: 10.1046/j.1537-2995.1984.24284173353.x. PMID: 6324425

Electronmicroscopic and biochemical observations on erythroid cells in congenital dyserythropoietic anemia type II.

Kerkhoven P, Marti HR, Hug G
Virchows Arch A Pathol Anat Histol 1974 May 27;363(1):1-15. doi: 10.1007/BF00432200. PMID: 4276255

See all (23)