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Congenital dyserythropoietic anemia, type III(CDAN3A)

MedGen UID:
1801596
Concept ID:
C5676874
Disease or Syndrome
Synonyms: ANEMIA WITH MULTINUCLEATED ERYTHROBLASTS; CDAN3A; Dyserythropoietic anemia, congenital type 3; ERYTHRORETICULOSIS, HEREDITARY BENIGN
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 dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): KIF23 (15q23)
 
Monarch Initiative: MONDO:0007109
OMIM®: 105600
Orphanet: ORPHA98870

Definition

Congenital dyserythropoietic anemia type IIIa (CDAN3A) is a rare autosomal dominant hematologic disorder characterized by nonprogressive mild to moderate hemolytic anemia, macrocytosis in the peripheral blood, intravascular hemolysis, and giant multinucleated erythroblasts in the bone marrow. The disorder results from ineffective erythropoiesis. Laboratory studies show evidence of intravascular hemolysis, including increased thymidine kinase, lactate dehydrogenase, and/or undetectable haptoglobin (summary by Lind et al., 1995; Liljeholm et al., 2013). For a discussion of genetic heterogeneity of congenital dyserythropoietic anemia, see 224120. [from OMIM]

Clinical features

From HPO
Hemosiderinuria
MedGen UID:
775752
Concept ID:
C2721579
Disease or Syndrome
The presence of hemosiderin in the urine.
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.
Macrocytic anemia
MedGen UID:
1920
Concept ID:
C0002886
Disease or Syndrome
A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH).
Anemia of inadequate production
MedGen UID:
95937
Concept ID:
C0392708
Pathologic Function
A kind of anemia characterized by inadequate production of erythrocytes.
Diamond-Blackfan anemia
MedGen UID:
266045
Concept ID:
C1260899
Disease or Syndrome
Diamond-Blackfan anemia (DBA) is characterized by a profound normochromic and usually macrocytic anemia with normal leukocytes and platelets, congenital malformations in up to 50%, and growth deficiency in 30% of affected individuals. The hematologic complications occur in 90% of affected individuals during the first year of life. The phenotypic spectrum ranges from a mild form (e.g., mild anemia or no anemia with only subtle erythroid abnormalities, physical malformations without anemia) to a severe form of fetal anemia resulting in nonimmune hydrops fetalis. DBA is associated with an increased risk for acute myelogenous leukemia (AML), myelodysplastic syndrome (MDS), and solid tumors including osteogenic sarcoma.
Increased circulating lactate dehydrogenase concentration
MedGen UID:
1377250
Concept ID:
C4477095
Finding
An elevated level of the enzyme lactate dehydrogenase in the blood circulation.
Reduced haptoglobin level
MedGen UID:
1686017
Concept ID:
C5209264
Finding
An abnormally low concentration of haptoglobin in the blood circulation. Decreased haptoglobin in conjunction with increased reticulocyte count and anemia may indicate hemolysis. Decreased haptoglobin levels can also occur in the absence of hemolysis, due to cirrhosis of the liver, disseminated ovarian carcinomatosis, pulmonary sarcoidosis, and elevated estrogen state.

Professional guidelines

PubMed

Cazzola M
Blood 2022 Apr 21;139(16):2460-2470. doi: 10.1182/blood.2021011045. PMID: 34932791
Roy NBA, Babbs C
Br J Haematol 2019 May;185(3):436-449. Epub 2019 Mar 5 doi: 10.1111/bjh.15817. PMID: 30836435Free PMC Article
Gambale A, Iolascon A, Andolfo I, Russo R
Expert Rev Hematol 2016 Mar;9(3):283-96. Epub 2016 Jan 6 doi: 10.1586/17474086.2016.1131608. PMID: 26653117

Recent clinical studies

Etiology

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
Sandström H, Wahlin A
Haematologica 2000 Jul;85(7):753-7. PMID: 10897128

Diagnosis

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
Liljeholm M, Irvine AF, Vikberg AL, Norberg A, Month S, Sandström H, Wahlin A, Mishima M, Golovleva I
Blood 2013 Jun 6;121(23):4791-9. Epub 2013 Apr 9 doi: 10.1182/blood-2012-10-461392. PMID: 23570799
Sigler E, Shaft D, Shtalrid M, Shvidel L, Berrebi A, Resnitzky P
Am J Hematol 2002 May;70(1):72-6. doi: 10.1002/ajh.10086. PMID: 11994986
Röhrig G, Kilter H, Beuckelmann D, Kröner A, Scheid C, Diehl V, Söhngen D
Am J Hematol 2000 Aug;64(4):314-6. doi: 10.1002/1096-8652(200008)64:4<314::aid-ajh14>3.0.co;2-o. PMID: 10911387
Sandström H, Wahlin A
Haematologica 2000 Jul;85(7):753-7. PMID: 10897128

Prognosis

Vikberg AL, Malla S, Golovleva I
Blood Cells Mol Dis 2020 Nov;85:102483. Epub 2020 Jul 31 doi: 10.1016/j.bcmd.2020.102483. PMID: 32818800
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
Liljeholm M, Irvine AF, Vikberg AL, Norberg A, Month S, Sandström H, Wahlin A, Mishima M, Golovleva I
Blood 2013 Jun 6;121(23):4791-9. Epub 2013 Apr 9 doi: 10.1182/blood-2012-10-461392. PMID: 23570799
Sigler E, Shaft D, Shtalrid M, Shvidel L, Berrebi A, Resnitzky P
Am J Hematol 2002 May;70(1):72-6. doi: 10.1002/ajh.10086. PMID: 11994986
Furukawa T, Inoue H, Sugita K, Eguchi M, Sakakibara H, Sugiyama S, Suda T
Blood Cells 1993;19(2):493-506; discussion 507-8. PMID: 8312576

Clinical prediction guides

Furukawa T, Inoue H, Sugita K, Eguchi M, Sakakibara H, Sugiyama S, Suda T
Blood Cells 1993;19(2):493-506; discussion 507-8. PMID: 8312576
Vainchenker W, Breton-Gorius J, Guichard J, Bouguet J, Henri A, Rochant H, Goudsmit R
Exp Hematol 1980 Sep;8(8):1057-62. PMID: 7202587

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