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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; 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).
 
Gene (location): 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.
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.
Reticulocytosis
MedGen UID:
60089
Concept ID:
C0206160
Finding
An elevation in the number of reticulocytes (immature erythrocytes) in the peripheral blood circulation.
Anemia of inadequate production
MedGen UID:
95937
Concept ID:
C0392708
Pathologic Function
A kind of anemia characterized by inadequate production of erythrocytes.
Splenomegaly
MedGen UID:
52469
Concept ID:
C0038002
Finding
Abnormal increased size of the spleen.
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.
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.

Professional guidelines

PubMed

Cazzola M, Invernizzi R
Haematologica 2010 May;95(5):693-5. doi: 10.3324/haematol.2009.021683. PMID: 20442439Free PMC Article
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: 20015893Free PMC Article
Chrobák L
Acta Medica (Hradec Kralove) 2006;49(3):193-5. PMID: 17117609

Recent clinical studies

Etiology

Saptarshi AN, Dongerdiye RK, More TA, Kedar PS
Ital J Pediatr 2023 Jul 16;49(1):84. doi: 10.1186/s13052-023-01493-w. PMID: 37455305Free PMC Article
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: 37373084Free PMC Article
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
Schachter H
Cell Mol Life Sci 2001 Jul;58(8):1085-104. doi: 10.1007/PL00000923. PMID: 11529501
Perrotta S, del Giudice EM, Carbone R, Servedio V, Schettini F Jr, Nobili B, Iolascon A
J Pediatr 2000 Apr;136(4):556-9. doi: 10.1016/s0022-3476(00)90026-x. PMID: 10753261

Diagnosis

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: 22208203Free PMC Article
Russo R, Esposito MR, Asci R, Gambale A, Perrotta S, Ramenghi U, Forni GL, Uygun V, Delaunay J, Iolascon A
Am J Hematol 2010 Dec;85(12):915-20. doi: 10.1002/ajh.21866. PMID: 20941788Free PMC Article
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
Perrotta S, del Giudice EM, Carbone R, Servedio V, Schettini F Jr, Nobili B, Iolascon A
J Pediatr 2000 Apr;136(4):556-9. doi: 10.1016/s0022-3476(00)90026-x. PMID: 10753261
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

Therapy

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
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

Prognosis

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
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
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
Vassiliadis T, Garipidou V, Perifanis V, Tziomalos K, Giouleme O, Patsiaoura K, Avramidis M, Nikolaidis N, Vakalopoulou S, Tsitouridis I, Antoniadis A, Semertzidis P, Kioumi A, Premetis E, Eugenidis N
World J Gastroenterol 2006 Feb 7;12(5):818-21. doi: 10.3748/wjg.v12.i5.818. PMID: 16521204Free PMC Article
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

Clinical prediction guides

Khoriaty R, Hesketh GG, Bernard A, Weyand AC, Mellacheruvu D, Zhu G, Hoenerhoff MJ, McGee B, Everett L, Adams EJ, Zhang B, Saunders TL, Nesvizhskii AI, Klionsky DJ, Shavit JA, Gingras AC, Ginsburg D
Proc Natl Acad Sci U S A 2018 Aug 14;115(33):E7748-E7757. Epub 2018 Jul 31 doi: 10.1073/pnas.1805784115. PMID: 30065114Free PMC Article
Khoriaty R, Everett L, Chase J, Zhu G, Hoenerhoff M, McKnight B, Vasievich MP, Zhang B, Tomberg K, Williams J, Maillard I, Ginsburg D
Sci Rep 2016 Jun 14;6:27802. doi: 10.1038/srep27802. PMID: 27297878Free PMC Article
Tao J, Zhu M, Wang H, Afelik S, Vasievich MP, Chen XW, Zhu G, Jensen J, Ginsburg D, Zhang B
Proc Natl Acad Sci U S A 2012 Jul 17;109(29):E2001-9. Epub 2012 Jun 28 doi: 10.1073/pnas.1209207109. PMID: 22745161Free PMC Article
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
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

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