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Congenital Dyserythropoietic Anemia Type I

, MD and , PhD.

Author Information

Initial Posting: ; Last Update: August 25, 2016.

Summary

Clinical 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 of CDA I is suspected based on hematologic findings and established with identification of biallelic pathogenic variants in CDAN1 or C15orf41.

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

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

Surveillance: Recommended monitoring for iron overload:

  • Measurement of hemoglobin, bilirubin, iron, transferrin and serum ferritin concentration every three months starting at age ten years.
  • Annual myocardial T2* MRI and hepatic R2* MRI (if available) starting at age ten years.

Agents/circumstances to avoid: Any preparation containing iron.

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. Once the pathogenic variants have been identified in an affected family member, carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible options.

Diagnosis

Suggestive Findings

Congenital dyserythropoietic anemia type I (CDA I) should be suspected in individuals with the following findings:

  • Moderate-to-severe macrocytic anemia with MCV >90 fL
  • Inappropriately low number of reticulocytes for the degree of anemia compared to other hemolytic anemias (secondary to ineffective erythropoiesis)
  • On peripheral blood smear: macrocytosis, elliptocytes, basophilic stippling, and occasional mature nucleated erythrocytes
  • 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
  • Other:
    • Jaundice
    • Splenomegaly resulting from marrow expansion secondary to ineffective erythropoiesis
    • Anemia and distal limb dimorphism including hypoplastic nails and syndactyly

Establishing the Diagnosis

The diagnosis of CDA I is established in a proband with suggestive findings and identification of biallelic pathogenic variants in one of the genes listed in Table 1.

Molecular testing approaches can include serial single-gene testing, use of a multi-gene panel, and more comprehensive genomic testing.

Serial single-gene testing can be considered if (1) mutation of a particular gene accounts for a large proportion of the disease or (2) factors including clinical findings, laboratory findings, or ancestry indicate that mutation of a particular gene is most likely.

Sequence analysis of the gene of interest is performed first and followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found.*

  • Targeted analysis for the c.3124C>T pathogenic variant in CDAN1can be performed first in individuals of Bedouin ancestry.
  • 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.

*Note: The authors are not aware of deletion/duplication analysis having been performed on either CDAN1 or C15orf41.

A multi-gene panel that includes C15orf41 and CDAN1 and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included and the sensitivity of multi-gene panels vary by laboratory and over time. (2) Some multi-gene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multi-gene panel provides the best opportunity to identify the genetic cause of the condition at the most reasonable cost. (3) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing based tests.

More comprehensive genomic testing (when available) including whole-exome sequencing (WES) and whole-genome sequencing (WGS) may be considered if serial single-gene testing (and/or use of a multi-gene panel that includes C15orf41 and CDAN1) fails to confirm a diagnosis in an individual with features of CDA 1. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation). For issues to consider in interpretation of genomic test results, click here.

Table 1.

Molecular Genetic Testing Used in Congenital Dyserythropoietic Anemia Type I (CDA I)

Gene 1Proportion of CDA1 Attributed to Pathogenic Variants in This GeneProportion of Pathogenic Variants 2 Detectable by Test Method
Sequence analysis 3Gene-targeted deletion/duplication analysis 4
C15orf41~1% 53/3Unknown 6
CDAN190% 797/97Unknown 6
Unknown 89%NA
1.
2.

See Molecular Genetics for information on allelic variants detected in this gene.

3.

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

4.

Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods that may be used include: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

5.

Author, personal observation

6.

No data on detection rate of gene-targeted deletion/duplication analysis are available.

7.

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

8.

The existence of at least one additional locus is suggested by the absence of pathogenic variants in CDAN1 or C15orf41 in seven families with CDA I [Babbs et al 2013].

Clinical Characteristics

Clinical Description

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

Neonatal presentation. 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.

Childhood and later

  • Anemia. 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.
  • Splenomegaly may be absent in infants or young children, but develop later with age.
  • Gallstones were detected in four of 21 individuals before age 30 years.
  • Skeletal findings. 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.
  • Ophthalmic concerns. Retinal angioid streaks with deterioration of vision have been reported is a rare complication of inherited hemolytic anemia in 4 adults aged 45-57 years [Roberts et al 2006, Tamary et al 2008, Frimmel & Kniestedt 2016].

Life span. Five (23%) of 21 adult patients described by Heimpel et al [2006] died, mainly as a result of iron overload. According to the authors’ recently published follow-up data, 9% (3/32) of adult patients died at age 46-59 years. Causes of death included sepsis and severe arterial pulmonary hypertension [Shalev et al 2016]. It should be noted that all deceased patients previously underwent splenectomy.

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; OMIM) is the most common CDA. It is also known as HEMPAS (hereditary erythroblastic multinuclearity with positive acidified serum lysis test) because the RBCs of affected individuals are lysed by acidified sera of 40%-60% of healthy adults due to the presence of natural cold-reacting IgM antibody. CDA II is characterized by mild-to-severe anemia, jaundice, and (in 50%-60% of affected individuals) splenomegaly. 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. CDA II is caused by mutation of SEC23B and inherited in an autosomal recessive manner [Schwarz et al 2009].
  • Congenital dyserythropoietic anemia type III (CDA III; OMIM) is the rarest CDA. It was first described in 1951 in an American family by Wolfe and von Hofe, and again 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., a single occurrence in a family).
  • Congenital dyserythropoietic anemia type IV (CDAN IV; OMIM) is caused by mutation of KLF1 and inherited in an autosomal dominant manner.

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.

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
  • Consultation with a clinical geneticist and/or genetic counselor

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.Treatment should be given by a physician who is experienced in interferon administration.

Successful allogenic bone marrow transplantation has been described in three children [Ayas et al 2002] 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 and also thromboembolic complications may follow splenectomy. Therefore, splenectomy should be cautiously considered in patients with CDA I, as is recommended for non-transfusion-dependent thalassemia [Taher et al 2013].

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 non-transfusion dependent thalassemia [Taher et al 2013].

Surveillance

Recommended monitoring for iron overload:

  • Measurement of hemoglobin, bilirubin, iron, transferrin and serum ferritin concentration every three months starting at age ten years
  • 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 [Shalev et al 2008].

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 CDAN1 or C15orf41 pathogenic variant).
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

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.
  • Heterozygotes (carriers) are asymptomatic and are not at risk of developing the disorder.

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 CDAN1 or C15orf41 pathogenic variant.

Other family members. Each sib of the proband’s parents is at a 50% risk of being a carrier of a CDAN1 or C15orf41 pathogenic variant.

Carrier (Heterozygote) Detection

Carrier testing for at-risk relatives requires prior identification of the CDAN1 or C15orf41 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 and Preimplantation Genetic Diagnosis

Once the CDAN1 or C15orf41 pathogenic variants have been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible options.

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.

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.

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 from HGNC; chromosome locus, locus name, critical region, complementation group from OMIM; protein 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

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.

Pathogenic allelic variants. A pathogenic missense variant (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 2.

C15orf41 Pathogenic Variants Discussed in This GeneReview

DNA Nucleotide ChangePredicted Protein 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].

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.

Pathogenic allelic variants. Most pathogenic variants (23/36) are missense. Other types of pathogenic variants identified to date include: five frameshift, four stop codon, and four splice site variants. 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 mutated alleles)
  • c.3389C>T (5/75, 7% of mutated alleles)
  • c.3128A>T (4/75, 5% of mutated alleles)

And the following from Europe and China:

  • c.2140C>T (4/75, 5% of mutated 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 has been identified; however, in most individuals splice site or large deletions have not been ruled out.

Table 3.

Selected CDAN1 Allelic Variants

Variant ClassificationDNA Nucleotide ChangePredicted Protein 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 mutated allele that is predicted to result in a translated protein product, suggesting that the codanin-1 protein may be essential for life.

References

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. Ayas M, al-Jefri A, Baothman A, et al. Transfusion-dependent congenital dyserythropoietic anemia type I successfully treated with allogeneic stem cell transplantation. Bone Marrow Transplant. 2002;29:681–2. [PubMed: 12180113]
  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. Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I. Haematologica. 2013;98:1383–7. [PMC free article: PMC3762094] [PubMed: 23716552]
  4. Frimmel S, Kniestedt C. Angioid streaks in types I and II congenital dyserythropoietic anaemia (CDA). Klin Monbl Augenheilkd. 2016;233:482–7. [PubMed: 27116514]
  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. Roberts E, Madhusudhana KC, Newsom R, Cullis JO. Blindness due to angioid streaks in congenital dyserythropoietic anaemia type I. Br J Haematol. 2006;133:456. [PubMed: 16681633]
  9. 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]
  10. Shalev H, Al-Athamen K, Levi I, Levitas A, Tamary H. Morbidity and mortality of adult patients with congenital dyserythropoietic anemia type I. Eur J Haematol. 2016 May 20; [Epub ahead of print] [PubMed: 27206021]
  11. 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]
  12. 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]
  13. Taher A, Vichinsky E, Musallam K, et al. Iron overload and chelation therapy. In: Weatherall D, ed. Guidelines for the Management of Non Transfusion Dependent Thalassaemia (NTDT) Chap 5. Nicosia, Cyprus: Thalassaemia International Federation; 2013. Available online. Accessed 8-17-16.
  14. 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]
  15. 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

  • 25 August 2016 (ha) Comprehensive update posted live
  • 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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