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Congenital Dyserythropoietic Anemia Type I

Includes: CDAN1-Related Congenital Dyserythropoietic Anemia, C15ORF41-Related Congenital Dyserythropoietic Anemia

, MD and , PhD.

Author Information
, MD
Professor of Pediatrics
Head of Pediatric Hematology Unit
Schneider Children's Medical Center of Israel
Petah Tiqva, Israel
, PhD
Director, Pediatric Hematology Laboratory
Felsenstein Medical Research Center
Beilinson Campus
Petah Tiqva, Israel

Initial Posting: ; Last Update: February 20, 2014.

Summary

Disease characteristics. Congenital dyserythropoietic anemia type I (CDA I) is characterized by moderate to severe macrocytic anemia presenting occasionally in utero as severe anemia associated with hydrops fetalis but more commonly in neonates as hepatomegaly, early jaundice, and intrauterine growth retardation. Some cases present in childhood or adulthood. After the neonatal period, most affected individuals have lifelong moderate anemia, usually accompanied by jaundice and splenomegaly. Secondary hemochromatosis develops with age as a result of increased iron absorption even in those who are not transfused. Distal limb anomalies occur in 4%-14% of affected individuals.

Diagnosis/testing. Diagnosis relies on hematologic findings. CDAN1 and C15ORF41 are the only genes in which pathogenic variants are currently known to cause CDA I.

Management. Treatment of manifestations: Intramuscular or subcutaneous injections of interferon (IFN)-α2a or INF-α2b given two or three times a week increase hemoglobin and decrease iron overload in the majority of treated individuals.

Prevention of secondary complications: Treatment of iron overload using standard guidelines for regular phlebotomy and iron chelation as needed.

Surveillance: Monitoring for iron overload with at least annual measurement of serum ferritin concentration; annual myocardial T2* MRI and hepatic R2* MRI, if available, starting at age ten years.

Agents/circumstances to avoid: Multivitamins containing iron.

Pregnancy management: Monitoring of fetal hemoglobin by Doppler ultrasonography and fetal transfusions to prevent hydrops fetalis if severe fetal anemia is detected.

Genetic counseling. CDA I is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the disease-causing pathogenic variants in a family have been identified.

Diagnosis

Clinical Diagnosis

The diagnosis of congenital dyserythropoietic anemia type I (CDA I) is based on the following findings:

  • Moderate to severe macrocytic anemia with MCV >90 fL
  • In bone marrow aspirate:
    • On light microscopy: erythroid hyperplasia, few double-nucleated erythroblasts, and interchromatin bridges between erythroblasts (in 0.6%-2.8% of erythroblasts)
    • On electron microscopy: erythroid precursors with spongy appearance of heterochromatin (in ≤60% of erythroblasts) and invaginations of the nuclear membrane
  • On peripheral blood smear: macrocytosis, elliptocytes, basophilic stippling, and occasional mature nucleated erythrocytes
  • Inappropriately low number of reticulocytes for the degree of anemia compared to other hemolytic anemias (secondary to ineffective erythropoiesis)
  • Other:
    • Jaundice
    • Splenomegaly resulting from marrow expansion secondary to ineffective erythropoiesis

Molecular Genetic Testing

Gene. CDAN1 and C15ORF41 are the only genes in which pathogenic variants are currently known to cause CDA I [Dgany et al 2002, Babbs et al 2013].

Evidence for locus heterogeneity. The existence of at least one additional locus is suggested by the absence of mutations in CDAN1 or C15ORF41 in seven families with CDA I [Babbs et al 2013].

Clinical testing

Table 1. Summary of Molecular Genetic Testing Used in Congenital Dyserythropoietic Anemia Type I

Gene 1Proportion of CDA Type I Attributable to Pathogenic Variants in this GeneTest Method
CDAN190% 2Sequence analysis 3
Targeted mutation analysis 4
C15ORF41UnknownSequence analysis 3

1. See Table A. Genes and Databases for chromosome locus and protein name. See Molecular Genetics for information on allelic variants detected in this gene.

2. In 60% of affected individuals two mutations were identified by sequence analysis, in 28% only one mutation was identified, and in 11% no mutation was identified (Note: Testing to detect splice-site mutations and large deletions was not performed) [combined data of Authors and other labs, unpublished].

3. Sequence analysis detects variants that are benign, likely benign, of unknown significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exonic or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.

4. Targeted mutation analysis of c.3124C>T in persons of Bedouin ancestry; mutation panels may vary by laboratory.

Testing Strategy

To confirm/establish the diagnosis in a proband

  • Complete blood count revealing macrocytic anemia
  • Exclusion of common entities with macrocytic anemia (e. g., megaloblastic disease, liver disease, myeloid dysplastic syndromes)
  • Bone marrow aspirate demonstrating erythroid hyperplasia, few double-nucleated erythroblasts, and internuclear chromatin bridges between erythroblasts by light microscopy
  • Bone marrow aspirate demonstrating erythroid precursors with spongy appearance of heterochromatin by electron microscopy (EM)
  • If bone marrow EM is unavailable and erythroid internuclear chromatin bridges are observed, molecular genetic testing:
    • In individuals of Bedouin ancestry, targeted mutation analysis for c.3124C>T can be performed.
    • In all other ethnicities, full gene sequencing of CDAN1 should be performed first.
    • If no CDAN1 pathogenic variant is found, full sequencing of C15ORF41 should be performed in all populations.

Clinical Description

Natural History

Rarely, CDA I presents as severe in utero anemia that may be associated with hydrops fetalis, requiring intrauterine red blood cell (RBC) transfusion.

Of 70 Bedouin neonates with CDA I, 45 (64%) were symptomatic [Shalev et al 2004]. Of those with symptoms, 65% had hepatomegaly, 53% had early jaundice, and 27% were small for gestational age. A few had persistent pulmonary hypertension, direct hyperbilirubinemia, and transient thrombocytopenia. The majority of affected infants required at least one blood transfusion during the neonatal period.

Splenomegaly may be absent in infants or young children, but develop later with age.

Most affected individuals have lifelong moderate anemia (mean hemoglobin levels 85±6 g/L). Anemia is usually accompanied by jaundice and splenomegaly, which was present in 17 of 21 (80%) individuals [Heimpel et al 2006]. Few are transfusion dependent; Heimpel et al [2006] found that only two of 21 individuals followed for up to 37 years were dependent on transfusion.

Even in those with CDA I who are not transfused, secondary hemochromatosis develops with age as a result of increased iron absorption. Free iron precipitating in parenchymal organs and especially in the heart can cause congestive heart failure and arrhythmias. Low hepcidin levels have been documented in individuals with CDA I.

Gallstones were detected in four of 21 individuals before age 30 years.

Distal limb anomalies including syndactyly, hypoplastic nails, and duplication of fourth metatarsal bone were described in 4%-14% of affected individuals. Lumbar scoliosis resulting from a partly duplicated L3 vertebra was also described.

Retinal angioid streaks with deterioration of vision have been reported in two adults [Tamary et al 2008].

Fertility is not affected; however, the anemia places pregnancies of affected women at high risk for delivery-related and outcome complications.

Sixty-four percent of 28 pregnancies in Bedouin women with CDA I were complicated [Shalev et al 2008]. One pregnancy aborted spontaneously in the first trimester and one resulted in stillbirth at 26 weeks’ gestation. Cesarean section was performed in ten deliveries (36%). Eleven of 26 (42%) newborns had a low birth weight: six were premature and five were small for gestational age. Careful maternal and fetal follow-up during pregnancy was associated with significantly better fetal outcome.

Genotype-Phenotype Correlations

No phenotype-genotype correlations are known. Marked clinical variability is observed even among individuals with the same pathogenic variants.

Prevalence

About 100 simplex cases (i.e., single occurrences in a family) mainly from Europe and about 70 consanguineous Israeli Bedouin families have been described in the literature. C15ORF41 variants have been described in one family originating in Kuwait and in two South Asian (Pakistani) families [Babbs et al 2013].

Differential Diagnosis

The following congenital anemias are included in the differential diagnosis of CDA I:

  • Congenital dyserythropoietic anemia type II (CDA II) is the most common CDA. It is also known as HEMPAS (hereditary erythroblastic multinuclearity with positive acidified serum lysis test) because patients' RBCs are lysed by acidified sera of 40%-60% of healthy adults because of the presence of natural cold-reacting IgM antibody. CDA II is characterized by mild to severe anemia, jaundice, and splenomegaly, which is observed in 50%-60% of affected individuals. Up to 15% of affected individuals are transfusion-dependent [Heimpel et al 2003, Wickramasinghe & Wood 2005]. Beyond age 20 years most affected individuals develop iron overload.

    The diagnosis of CDA II requires evidence of congenital anemia, ineffective erythropoiesis, and typical bone marrow findings with binuclearity in 10%-50% of erythroblasts. SEC23B, the gene in which mutation causes CDA II, has recently been cloned [Schwarz et al 2009].
  • Congenital dyserythropoietic anemia type III (CDA III) is the rarest CDA. It was first described in 1951 in an American family by Wolfe and von Hofe, and in 1962 in a large family from northern Sweden [Wickramasinghe & Wood 2005]. The clinical presentation is similar to that of CDA I and CDA II; however, in the Swedish family, the anemia is not severe and transfusions are not required. The most marked anomaly in the bone marrow is the presence of giant multinucleated erythroblasts with up to 12 nuclei per cell. Additional findings include retinal angioid streaks, macular degeneration, and monoclonal gammopathy with or without multiple myeloma. The gene in which pathogenic variants were causative was mapped close to CDAN1 in a 4.5-cM interval between 15q21 and 15q25. CDA III has been described in fewer than 20 well-documented simplex cases (i.e., single occurrence in a family).
  • Congenital dyserythropoietic anemia type IV is caused by pathogenic variants in KLF1.

See Congenital Dyserythropoietic Anemia: OMIM Phenotypic Series, to view genes associated with CDA in OMIM.

Other. The diagnosis of CDA should be considered following exclusion of other causes of macrocytosis (mainly B12 deficiency and folic acid deficiency) and dyserythropoiesis, including thalassemia syndromes and hereditary sideroblastic anemia. However, the latter two are associated with microcytic anemia.

Note to clinicians: For a patient-specific ‘simultaneous consult’ related to this disorder, go to Image SimulConsult.jpg, an interactive diagnostic decision support software tool that provides differential diagnoses based on patient findings (registration or institutional access required).

Management

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with congenital dyserythropoietic anemia type I (CDA I), the following evaluations are recommended:

  • Hemoglobin concentration and serum bilirubin concentration
  • Serum ferritin concentration and other modalities used to assess iron overload including liver and myocardial T2* MRI and hepatic R2* MRI
  • Abdominal ultrasound examination to evaluate for biliary stones
  • Medical genetics consultation

Treatment of Manifestations

Intramuscular or subcutaneous injections of interferon (IFN)-α2a or INF-α2b given two or three times a week increase hemoglobin and decrease iron overload in the majority of treated individuals [Lavabre-Bertrand et al 2004]. Peginterferon-α2b has also been given once a week. The mechanism behind this response is unknown. To date, only a limited number of individuals, including infants, have been treated.

Successful allogenic bone marrow transplantation has been described in a few individuals and should be considered only in those transfusion-dependent persons who are resistant to IFN therapy.

Splenectomy is of unproved value; failure of this procedure to increase hemoglobin levels has been described in the literature.

Prevention of Secondary Complications

Treatment of iron overload with regular phlebotomies, if possible, along with iron chelators as necessary, is indicated. Iron overload therapy should follow the guidelines used for thalassemia [Angelucci et al 2008].

Surveillance

Recommended monitoring for iron overload:

  • At least annual measurement of serum ferritin concentration
  • Annual myocardial T2* MRI and hepatic R2* MRI, if available, starting at age ten years

Agents/Circumstances to Avoid

Avoid any preparation containing iron.

Evaluation of Relatives at Risk

Evaluation of the younger sibs of a proband for early manifestations of CDA I is recommended so that monitoring of hemoglobin and ferritin levels and treatment can begin as soon as necessary in those who are affected.

  • Evaluation of at-risk family members should include CBC to identify macrocytic anemia as well as typical findings on blood smear including macrocytosis, elliptocytes, and basophilic stippling.
  • The diagnosis can be confirmed by molecular genetic testing if the pathogenic variants in the family have been identified.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Pregnancy Management

Anemia places pregnancies of affected women at high risk for delivery-related and outcome complications.

Prenatal management of pregnancies at risk for complications of CDA I involves monitoring of fetal hemoglobin by Doppler ultrasonography and fetal transfusions to prevent hydrops fetalis if severe fetal anemia is detected.

Therapies Under Investigation

Search ClinicalTrials.gov for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Congenital dyserythropoietic anemia type I (CDA I) is inherited in an autosomal recessive manner.

Risk to Family Members

Parents of a proband

  • The parents of an affected child are obligate heterozygotes (i.e., carriers of one mutant allele).
  • Heterozygotes (carriers) are asymptomatic.

Sibs of a proband

  • At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier.
  • Once an at-risk sib is known to be unaffected, the risk of his/her being a carrier is 2/3.
  • Heterozygotes (carriers) are asymptomatic.

Offspring of a proband. Unless an individual with CDA I has children with an affected individual or a carrier, his/her offspring will be obligate heterozygotes (carriers) for a pathogenic variant identified in the parent.

Other family members of a proband. Each sib of the proband’s parents is at a 50% risk of being a carrier.

Carrier Detection

Carrier testing for at-risk relatives requires prior identification of the pathogenic variants in the family.

In populations with a high carrier rate and/or a high rate of consanguinity, it is possible that the reproductive partner of the proband is affected or is a carrier. Thus, the risk to offspring is most accurately determined after molecular genetic testing of the proband's reproductive partner.

Related Genetic Counseling Issues

See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.

Family planning

  • The optimal time for determination of genetic risk, clarification of carrier status, and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected, are carriers, or are at risk of being carriers.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing

If the pathogenic variants have been identified in an affected family member, prenatal testing for pregnancies at increased risk may be available from a clinical laboratory that offers either testing for this disease/gene or custom prenatal testing.

Requests for prenatal testing for conditions such as CDA I are very uncommon. Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing, particularly if the testing is being considered for the purpose of pregnancy termination rather than early diagnosis. Although most centers would consider decisions regarding prenatal testing to be the choice of the parents, discussion of these issues is appropriate.

Preimplantation genetic diagnosis (PGD) may be an option for some families in which the pathogenic variants have been identified.

Resources

GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • National Anemia Action Council (NAAC)
    555 East Wells Street
    Suite 1100
    Milwaukee WI 53202
    Phone: 414-225-0138
    Fax: 414-276-3349
    Email: rbeets@anemia.org; sgeiger@anemia.org

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A. Congenital Dyserythropoietic Anemia Type I: Genes and Databases

Data are compiled from the following standard references: gene symbol from HGNC; chromosomal locus, locus name, critical region, complementation group from OMIM; protein name from UniProt. For a description of databases (Locus Specific, HGMD) to which links are provided, click here.

Table B. OMIM Entries for Congenital Dyserythropoietic Anemia Type I (View All in OMIM)

224120ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ia; CDAN1A
607465CODANIN 1; CDAN1
615626CHROMOSOME 15 OPEN READING FRAME 41; C15ORF41
615631ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib; CDAN1B

CDAN1

Gene structure. CDAN1 consists of 28 exons spanning 15 kb of genomic DNA. It encompasses a putative mRNA of 4738 nucleotides encoding a protein of 1226 amino acids. For a detailed summary of gene and protein information, see Table A, Gene Symbol.

Pathogenic allelic variants. Most pathogenic variants (23/36) are missense. Other types of mutations identified to date include: five frameshift, four stop codon, and four splice site mutations. No affected individual was found to be homozygous for null-type variants. Most pathogenic variants (28/36) are found on the 3' half of the gene; most are in exons 14 and 24.

Fourteen pathogenic variants are recurring, including the following from Europe:

  • c.2012C>T (9/75, 12% of affected alleles)
  • c.3389C>T (5/75, 7% of affected alleles)
  • c.3128A>T (4/75, 5% of affected alleles)

And the following from Europe and China:

  • c.2140C>T (4/75, 5% of affected alleles)

The Bedouin pathogenic variant, c.3124C>T, was recently found in a French individual of European ancestry.

In 28% of affected individuals only one pathogenic variant in CDAN1 has been identified, and in 12% of affected individuals no pathogenic variant in CDAN1 identified; however, in most individuals splice-site or large deletions have not been ruled out.

Table 2. Selected CDAN1 Allelic Variants

Class of Variant AlleleDNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
Benignc.320A>Tp.Gln107LeuNM_138477​.2
NP_612486​.2
c.386G>Ap.Arg129His
c.1787A>Gp.Gln596Arg
c.2671C>Tp.Arg891Cys
Pathogenicc.156C>Gp.Phe52Leu
c.2012C>Tp.Pro671Leu
c.2140C>Tp.Arg714Trp
c.3124C>Tp.Arg1042Trp 1
c.3128A>Tp.Asp1043Val
c.3389C>Tp.Pro1130Leu

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1. In persons of Bedouin ancestry

Normal gene product. The function of the gene product, codanin-1 protein, is as yet unknown. It has 1226 amino acids [Ahmed et al 2006].

Abnormal gene product. It is not known how abnormal codanin-1 causes the disorder, but it is thought to result from loss of normal protein function. Molecular genetic testing has shown that affected individuals have at least one mutant allele that is predicted to result in a translated protein product, suggesting that the codanin-1 protein may be essential for life.

C15ORF41

Gene structure. C15ORF41 has been confirmed to generate a spliced transcript of 11 exons in cultured erythroblasts corresponding to NM_001130010.1 [Babbs et al 2013]. For a detailed summary of gene and protein information, see Table A, Gene Symbol.

Pathogenic allelic variants. A missense mutation (p.Leu178Gln) was identified in one family originating in Kuwait. One pathogenic variant (p.Tyr94Cys) with a possible founder effect was identified in two families of South Asian (Pakistani) descent [Babbs et al 2013].

Table 3. C15ORF41 Pathogenic Variants Discussed in This GeneReview

DNA Nucleotide ChangeProtein Amino Acid ChangeReference Sequences
c.281A>Gp.Tyr94Cys (South Asian)NM_001130010​.1
NP_001123482​.1
c.533T>Ap.Leu178Gln (Kuwaiti pedigree)

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (www​.hgvs.org). See Quick Reference for an explanation of nomenclature.

Normal gene product. The transcript variant NM_001130010.1 encodes the 281-amino acid protein (NP_001123482.1) that is a novel restriction endonuclease of the Holliday junction resolvase protein family [Babbs et al 2013].

Abnormal gene product. The mutated residues are both predicted to affect protein stability [Babbs et al 2013].

References

Medical Genetic Searches: A specialized PubMed search designed for clinicians that is located on the PubMed Clinical Queries page Image PubMed.jpg

Literature Cited

  1. Ahmed MR, Chehal A, Zahed L, Taher A, Haidar J, Shamseddine A, O'Hea AM, Bienz N, Dgany O, Avidan N, Beckmann JS, Tamary H, Higgs D, Vyas P, Wood WG, Wickramasinghe SN. Linkage and mutational analysis of the CDAN1 gene reveals genetic heterogeneity in congenital dyserythropoietic anemia type I. Blood. 2006;107:4968–9. [PubMed: 16754775]
  2. Angelucci E, Barosi G, Camaschella C, Cappellini MD, Cazzola M, Galanello R, Marchetti M, Piga A, Tura S. Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders. Haematologica. 2008;93:741–52. [PubMed: 18413891]
  3. Babbs C, Roberts NA, Sanchez-Pulido L, McGowan SJ, Ahmed MR, Brown JM, Sabry MA. WGS500 Consortium, Bentley DR, McVean GA, Donnelly P, Gileadi O, Ponting CP, Higgs DR, Buckle VJ. Haematologica. 2013;98:1383–7. [PMC free article: PMC3762094] [PubMed: 23716552]
  4. Dgany O, Avidan N, Delaunay J, Krasnov T, Shalmon L, Shalev H, Eidelitz-Markus T, Kapelushnik J, Cattan D, Pariente A, Tulliez M, Crétien A, Schischmanoff PO, Iolascon A, Fibach E, Koren A, Rössler J, Le Merrer M, Yaniv I, Zaizov R, Ben-Asher E, Olender T, Lancet D, Beckmann JS, Tamary H. Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1. Am J Hum Genet. 2002;71:1467–74. [PMC free article: PMC378595] [PubMed: 12434312]
  5. Heimpel H, Anselstetter V, Chrobak L, Denecke J, Einsiedler B, Gallmeier K, Griesshammer A, Marquardt T, Janka-Schaub G, Kron M, Kohne E. Congenital dyserythropoietic anemia type II: epidemiology, clinical appearance, and prognosis based on long-term observation. Blood. 2003;102:4576–81. [PubMed: 12933587]
  6. Heimpel H, Schwarz K, Ebnöther M, Goede JS, Heydrich D, Kamp T, Plaumann L, Rath B, Roessler J, Schildknecht O, Schmid M, Wuillemin W, Einsiedler B, Leichtle R, Tamary H, Kohne E. Congenital dyserythropoietic anemia type I (CDA I): molecular genetics, clinical appearance, and prognosis based on long-term observation. Blood. 2006;107:334–40. [PubMed: 16141353]
  7. Lavabre-Bertrand T, Ramos J, Delfour C, Henry L, Guiraud I, Carillo S, Wagner A, Bureau JP, Blanc P. Long-term alpha interferon treatment is effective on anaemia and significantly reduces iron overload in congenital dyserythropoiesis type I. Eur J Haematol. 2004;73:380–3. [PubMed: 15458519]
  8. Schwarz K, Iolascon A, Verissimo F, Trede NS, Horsley W, Chen W, Paw BH, Hopfner KP, Holzmann K, Russo R, Esposito MR, Spano D, De Falco L, Heinrich K, Joggerst B, Rojewski MT, Perrotta S, Denecke J, Pannicke U, Delaunay J, Pepperkok R, Heimpel H. Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II. Nat Genet. 2009;41:936–40. [PubMed: 19561605]
  9. Shalev H, Avraham GP, Hershkovitz R, Levy A, Sheiner E, Levi I, Tamary H. Pregnancy outcome in congenital dyserythropoietic anemia type I. Eur J Haematol. 2008;81:317–21. [PubMed: 18573172]
  10. Shalev H, Kapelushnik J, Moser A, Dgany O, Krasnov T, Tamary H. A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I. J Pediatr Hematol Oncol. 2004;26:746–8. [PubMed: 15543010]
  11. Tamary H, Offret H, Dgany O, Foliguet B, Wickramasinghe SN, Krasnov T, Rumilly F, Goujard C, Fénéant-Thibault M, Cynober T, Delaunay J. Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous Arg1042Trp mutation in codanin-1). Eur J Haematol. 2008;80:271–4. [PubMed: 18081704]
  12. Wickramasinghe SN, Wood WG. Advances in the understanding of the congenital dyserythropoietic anaemias. Br J Haematol. 2005;131:431–46. [PubMed: 16281933]

Suggested Reading

  1. Heimpel H, Iolascon A. Congenital dyserythropoietic anemia. In: Beaumont C, Beris Ph, Beuzard Y, Brugnara C, eds. Disorders of Homeostasis, Erythrocytes, Erythropoiesis. Paris, France: European School of Haematology; 2006:120-42.

Chapter Notes

Revision History

  • 20 February 2014 (me) Comprehensive update posted live
  • 1 September 2011 (me) Comprehensive update posted live
  • 21 April 2009 (et) Review posted live
  • 12 November 2008 (ht) Original submission
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