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Congenital Dyserythropoietic Anemia (Dyserythropoietic Anemia, Congenital)

A familial disorder characterized by ANEMIA with multinuclear ERYTHROBLASTS, karyorrhexis, asynchrony of nuclear and cytoplasmic maturation, and various nuclear abnormalities of bone marrow erythrocyte precursors (ERYTHROID PRECURSOR CELLS). Type II is the most common of the 3 types; it is often referred to as HEMPAS, based on the Hereditary Erythroblast Multinuclearity with Positive Acidified Serum test.
Also Known As:
Dyserythropoietic Anemia, Congenital; Anemia, Dyserythropoietic, Congenital; Anemia, Congenital Dyserythropoietic; Anemia, Congenital Dyserythropoietic, Type II; Anemia, Dyserythropoietic, Congenital Type 1; Anemia, Dyserythropoietic, Congenital Type 2; Anemia, Dyserythropoietic, Congenital, Type I; Anemia, Dyserythropoietic, Congenital, Type II; Anemia, Dyserythropoietic, Congenital, Type III; Congenital Dyserythropoietic Anemia Type 1; Congenital Dyserythropoietic Anemia Type II; Congenital Dyserythropoietic Anemia, Type I; Congenital Dyserythropoietic Anemia, Type III; Dyserythropoietic Anemia, Congenital Type 1; Dyserythropoietic Anemia, Congenital Type 2; Dyserythropoietic Anemia, HEMPAS Type; HEMPAS Anemia; Hereditary Erythroblast Multinuclearity with Positive Acidified Serum; Type I Congenital Dyserythropoietic Anemia; Anemias, Congenital Dyserythropoietic; Congenital Dyserythropoietic Anemias; Dyserythropoietic Anemias, Congenital; HEMPAS Anemias; HEMPAS
Networked: 108 relevant articles (3 outcomes, 10 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Congenital Dyserythropoietic Anemia (Dyserythropoietic Anemia, Congenital)
2. Hyperplasia
3. Anemia
4. Iron Overload
5. beta-Thalassemia (Cooley's Anemia)

Experts

1. Tamary, Hannah: 7 articles (11/2010 - 08/2002)
2. Iolascon, Achille: 6 articles (06/2014 - 03/2007)
3. Russo, Roberta: 4 articles (06/2014 - 05/2010)
4. Delaunay, Jean: 4 articles (11/2010 - 08/2002)
5. Shalev, Hanna: 3 articles (01/2015 - 10/2008)
6. Esposito, Maria Rosaria: 3 articles (02/2013 - 05/2010)
7. Heimpel, Hermann: 3 articles (05/2008 - 01/2006)
8. Tchernia, Gil: 2 articles (11/2010 - 08/2002)
9. Perrotta, Silverio: 2 articles (05/2010 - 03/2007)
10. Righetti, Pier Giorgio: 2 articles (02/2010 - 09/2009)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Congenital Dyserythropoietic Anemia:
1. IronIBA
2. InterferonsIBA
3. Transferrin (beta 2 Transferrin)IBA
4. Glycoproteins (Glycoprotein)IBA
5. Membrane Proteins (Integral Membrane Proteins)IBA
6. ChromatinIBA
01/01/2000 - "Anisopoikilocytosis with tear-drop forms, polychromasia, basophilic stippling in peripheral blood smear, erythroid hyperplasia with megaloblastoid changes, binucleated cells and intranuclear bridging in bone marrow aspirate and spongy, unevenly condensed nuclear chromatin in electron microscopy studies indicated that he had congenital dyserythropoietic anemia (CDA) type I. As a rare finding in CDA, ringed sideroblasts were noted. "
06/23/2011 - "Congenital dyserythropoietic anemia type 1 (CDA-1), a rare inborn anemia characterized by abnormal chromatin ultrastructure in erythroblasts, is caused by abnormalities in codanin-1, a highly conserved protein of unknown function. "
10/01/2008 - "Congenital dyserythropoietic anemia type I (CDA I) is a rare inherited disease characterized by moderate to severe macrocytic anemia and abnormal erythroid precursors with nuclear chromatin bridges and spongy heterochromatin. "
06/01/2005 - "Congenital dyserythropoietic anemia type I (CDA I) is a rare inherited hematological disorder characterized by macrocytic anemia and ineffective erythropoiesis with pathognomonic morphological features that include internuclear chromatin bridges, spongy heterochromatin, and invagination of the cytoplasm into the nuclear area in erythroid precursors. "
12/01/2001 - "A massive hydropic newborn born with a very severe anemia (Hb 4.8 g/dL), diffuse edema, hepatosplenomegaly, ascites, pulmonary edema and respiratory distress, and shortness and hallux varus deformity of the great toe of the right foot was diagnosed to have congenital dyserythropoietic anemia on the basis of the hematological (macrocytosis, anisopoikilocytosis, fragmented red cells and erythroblastosis in the peripheral blood, and erythroid hyperplasia with erythroblastosis and erythroblasts with double nuclei and thin chromatin bridges connecting these nuclei in the bone marrow) and serological (negative acidified serum lysis test and no agglutination with anti-i antibodies) findings. "
7. CarbohydratesIBA
10/08/1999 - "Erythrocyte membrane glycoproteins, such as band 3 and band 4.5, which are normally glycosylated with polylactosamines lack these carbohydrates in HEMPAS. "
12/01/1992 - "As a result, the serum glycoproteins with incompletely processed carbohydrates are circulating in the plasma in HEMPAS patients, but they must have been absorbed by the cells in the liver and the reticuloendothelial cells. "
05/25/1987 - "In order to find out where glycosylation of lactosaminoglycans stops, we have analyzed the carbohydrate structures of HEMPAS Band 3. By fast atom bombardment-mass spectrometry, methylation analysis, and hydrazinolysis followed by exoglycosidase treatments, the following structure was elucidated: (formula; see text) N-Linked glycopeptides synthesized in vitro by reticulocyte microsomes from HEMPAS were shown to be predominantly the above short oligosaccharide, whereas those from normal reticulocytes contain large molecular weight carbohydrates. "
12/15/1986 - "Previous studies on HEMPAS erythrocytes have shown that Band 3 and Band 4.5 glycoproteins were not glycosylated by lactosaminoglycans, while polylactosaminyl carbohydrates are accumulated as glycolipids (P. "
01/01/2000 - "Glycophorins A from erythrocyte membranes of two patients with congenital dyserythropoietic anemia type I and type II (CDA type I and II) were analyzed for carbohydrate molar composition employing a modification of the recently published method that allowed simultaneous determination of carbohydrates and protein in electrophoretic bands of glycoproteins separated by sodium dodecyl sulfate-polyacrylamide gel electrophoresis (Zdebska & KoĊ›cielak, 1999, Anal Biochem., 275, 171-179). "
8. Hemoglobins (Hemoglobin)IBA
9. GlycolipidsIBA
10. Galactose OxidaseIBA

Therapies and Procedures

1. Intravenous Infusions
2. Lasers (Laser)
3. Splenectomy
4. Hematopoietic Stem Cell Transplantation
5. Bone Marrow Transplantation (Transplantation, Bone Marrow)