The Congenital Dyserythropoietic Anemias

Renella, Raffaele; Wood, W. G.

doi:10.1016/j.hoc.2009.01.010

Cited by 45 publications

(38 citation statements)

References 114 publications

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“…Absence of hypochromia and microcytosis, unresponsiveness to pyridoxine treatment, normal serum zinc level, exclusion of myelodysplastic syndromes, lead toxicity and copper deficiency made inherited or acquired sideroblastic anemia unlikely in our patient. Light and electron microscopy findings of the bone marrow erythroblasts, the gold standard for CDA type 1 determination [4] were consistent with the diagnosis. The causative gene mutation for CDA type 1 (Codanin-1 mutation) was described first in 2002 [10].…”

Section: Discussionsupporting

confidence: 67%

“…Symptoms of CDA may first appear at any time between the neonatal period and late adulthood. The diagnosis can be made in episodes of erythropoietic stress such as pregnancy [4,5]. The patient described here presented with severe anemia during pregnancy without having an episode of anemia before.…”

Section: Discussionmentioning

confidence: 99%

“…Congenital dyserythropoietic anemia is a diagnosis of exclusion [3,4]. Symptoms of CDA may first appear at any time between the neonatal period and late adulthood.…”

Section: Discussionmentioning

confidence: 99%

“…Treatment of CDAs is mostly supportive and includes erythrocyte transfusions and iron chelation. Splenectomy can increase hemoglobin levels and eliminate the need for transfusions in CDA type 2 patients without having a beneficial effect on iron overload [4,12]. Hematopoieitic stem cell transplantation is the only available curative treatment modality and can be considered in transfusion dependent, severe patients with human leukocyte antigenidentical donors [13].…”

Section: Discussionmentioning

confidence: 99%

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Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha

Salihoğlu

Elverdi

Eşkazan

et al. 2015

Indian J Hematol Blood Transfus

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Congenital dyserythropoietic anemias are a rare group of inherited anemias characterized by ineffective erythropoiesis and distinct morphological abnormalities in the erythroblasts. Interferon alpha has been shown to be effective in type 1 congenital dyserythropoietic anemia but the optimal duration of therapy is undefined. We present here a 32-years-old female patient diagnosed with type 1 congenital dyserythropoietic anemia precipitated by pregnancy and treated successfully with a short course of interferon alpha resulting in a durable response. A literature search including PubMed database on previously published articles regarding congenital dyserythropoietic anemia type 1 patients treated with interferon is conducted.

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Section: Discussionsupporting

confidence: 67%

Section: Discussionmentioning

confidence: 99%

“…Congenital dyserythropoietic anemia is a diagnosis of exclusion [3,4]. Symptoms of CDA may first appear at any time between the neonatal period and late adulthood.…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha

Salihoğlu

Elverdi

Eşkazan

et al. 2015

Indian J Hematol Blood Transfus

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“…Extramedullary hematopoiesis presenting as paravertebral bulks may be observed in all types of CDAs. 7,8 The clinical picture of CDA I includes variable degrees of anemia, sometimes with neonatal symptoms, jaundice, splenomegaly, hepatomegaly, frequent and diverse dysmorphisms (4-14% of cases), predominantly affecting the digits (syndactyly in hands or feet, absence of nails or supernumerary toes), 7,8,16 and a progressive build up of iron overload. Retinal angioid streaks and macular abnormalities are also reported.…”

mentioning

confidence: 99%

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach

2012

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Congenital dyserythropoietic anemias belong to a group of inherited conditions characterized by a maturation arrest during erythropoiesis with a reduced reticulocyte production in contrast with erythroid hyperplasia in bone marrow. The latter shows specific morphological abnormalities that allowed for a morphological classification of these conditions mainly represented by congenital dyserythropoietic anemias types I and II. The identification of their causative genes provided evidence that these conditions have different molecular mechanisms that induce abnormal cell maturation and division. Some altered proteins seem to be involved in the chromatin assembly, such as codanin-1 in congenital dyserythropoietic anemia I. The gene involved in congenital dyserythropoietic anemia II, the most frequent form, is SEC23B. This condition seems to belong to a group of diseases attributable to defects in the transport of newly synthesized proteins from endoplasmic reticulum to the Golgi. This review will analyze recent insights in congenital dyserythropoietic anemias types I and II. It will also attempt to clarify the relationship between mutations in causative genes and the clinical phenotype of these conditions. Key words: dyserythropoiesis, congenital dyserythropoietic anemia, red blood cells, inherited anemias.Citation: Iolascon A, Esposito MR, and Russo R. Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach. Haematologica 2012;97(12): 1786-1794. doi:10.3324/haematol.2012 This is an open-access paper. ABSTRACT © F e r r a t a S t o r t i F o u n d a t i o nto distinguish without molecular evaluation. 7,8 Recent identification of several causative genes could help reclassify these disorders (Table 1). Variant forms are very rare and this, up to now, has compromised further molecular studies. Linkage studies had previously been the main tool to clarify the genetics of Mendelian disorders; however, extremely rare disorders or sporadic cases caused by de novo variants are not appropriate for this type of study design. Exome sequencing is now becoming technically feasible and more cost-effective due to the recent advances in high-throughput sequence capture methods and next-generation sequencing technologies that have offered new opportunities for research into Mendelian disorders. 9 We suggest that the use of these new technologies will lead to the identification of new causative genes in CDA variants in the near future. In particular, this review will deal with new insights on the two most frequent forms of CDAs: types I and II. Epidemiology of CDAsUntil December 2011, 712 cases from 614 families were included in the German CDA Registry, 10,11 whereas 206Clinical aspects and pathogenesis of CDAs haematologica | 2012; 97 (12) 1787 © F e r r a t a S t o r t i F o u n d a t i o ncases from 183 families were enrolled in the Italian CDA registry (A Iolascon, unpublished data, 2011 Although CDA II patients are to be found right across the Italian peninsula, the maj...

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Polyagglutination and Cryptantigens

Daniels

2013

Human Blood Groups

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The Congenital Dyserythropoietic Anemias

Cited by 45 publications

References 114 publications

Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha

Congenital Dyserythropoietic Anemia Type 1: Report of One Patient and Analysis of Previously Reported Patients Treated with Interferon Alpha

Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach

Polyagglutination and Cryptantigens

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