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Congenital Dyserythropoietic Anemia (Dyserythropoietic Anemia, Congenital)

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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 12/01/2009 - "Remission from transfusion-dependence in a patient with congenital dyserythropoietic anemia (CDA) and increased intensity of iron chelation." 03/01/2014 - "Congenital dyserythropoietic anemia type I (CDA I) is an autosomal recessive disorder with ineffective erythropoiesis and iron overloading. " 11/01/2013 - "Five of 14 patients (38%) with congenital dyserythropoietic anemia (CDA) developed excess cardiac iron before their 10th birthday. " 12/15/2008 - "Congenital dyserythropoietic anemia (CDA) is a rare group of red blood cell disorders characterized by ineffective erythropoiesis and increased iron absorption. " 09/01/2006 - "Congenital dyserythropoietic anemia type I (CDA I) is a rare autosomal recessive disorder with ineffective erythropoiesis, characteristic morphological abnormalities of erythroblasts, and iron overloading. "
2.	InterferonsIBA 08/01/2002 - "In keeping with a few previous reports, interferon alpha2b proved to be effective in congenital dyserythropoietic anemia, type 1. The patient became transfusion-independent. " 03/01/2005 - "Interferon therapy in congenital dyserythropoietic anemia type I/II." 08/01/2002 - "Congenital dyserythropoietic anemia, type 1, in a polynesian patient: response to interferon alpha2b." 08/01/2002 - "The authors attempted to assess the utility of interferon alpha2b treatment in a Polynesian girl with a relatively severe form of congenital dyserythropoietic anemia, type 1. The diagnosis was established using routine hematologic and biochemical tests, light and electron microscopy, and electrophoresis of red cell membrane proteins. "
3.	Transferrin (beta 2 Transferrin)IBA 12/01/1992 - "The majority of the HEMPAS transferrins was taken up by the liver, and transferrin was distributed both in the hepatocytes and the Kupffer cells. " 12/01/1992 - "In order to know whether this gene defect affects the glycosylation in the cells other than the erythroid cells, the carbohydrate structures of the transferrin isolated from the sera of HEMPAS patients were analysed. " 12/01/1992 - "Upon intravenous infusion into rats, as much as 30% of the HEMPAS transferrin was cleared from the plasma circulation. " 12/01/1992 - "Fast atom bombardment mass spectrometry analysis showed the presence of high mannose type and hybrid type oligosaccharides in the HEMPAS transferrin which is in contrast to the complex-type oligosaccharides found in the normal transferrin. "
4.	Glycoproteins (Glycoprotein)IBA 01/01/1998 - "The array of polylactosaminyl-containing glycoproteins present in EBV-transformed lymphoblasts derived from fresh blood of HEMPAS patients was similar to control lymphoblasts. " 01/01/1998 - "Structural and functional consequences of an N-glycosylation mutation (HEMPAS) affecting human erythrocyte membrane glycoproteins." 12/01/1992 - "The presence of enormous amounts of aberrantly glycosylated serum glycoproteins may lead to the liver cirrhosis and secondary tissue siderosis seen in HEMPAS patients." 08/01/1982 - "We report a study of HEMPAS erythrocyte membrane glycoproteins in relation to proteolytic digestion and surface labelling with galactose-oxidase/NaB[3H]4. The proteolytic digestion of band 3, the major intrinsic glycoprotein of the human erythrocyte membrane, reveals an abnormality in the outer glycosylated segment of this protein. " 08/07/2009 - "The Lec36 cell line will be useful for expressing therapeutic glycoproteins with hybrid-type glycans and as a sensitive host for detecting mutations in human MAN2A1 causing type II congenital dyserythropoietic anemia."
5.	Membrane Proteins (Integral Membrane Proteins)IBA 04/01/1982 - "In all of six cases of congenital dyserythropoietic anaemia, type II (HEMPAS), gel electrophoresis in the presence of SDS revealed abnormally rapid migration of the preponderant integral membrane protein, band 3. After proteolysis of intact cells, the remaining part of the band 3, comprising the intramembrane segment and the cytoplasmic domain, migrated electrophoretically as a single band, identical in mobility to that from normal cells treated in the same manner. " 09/01/2009 - "Congenital dyserythropoietic anemia type II (CDAII) is an autosomal recessive disease characterized by ineffective erythropoiesis, hemolysis, erythroblast morphological abnormalities, and hypoglycosylation of some red blood cell (RBC) membrane proteins. " 06/01/2004 - "[Abnormalities of the erythrocyte membrane ultrastructure and the membrane proteins in a patient with HEMPAS, alpha thalassemia and complicated diabetes]." 01/01/1995 - "In addition, bone marrow morphology, serological studies and analysis of red cell membrane proteins revealed congenital dyserythropoietic anemia (CDA) type II (or HEMPAS). " 08/01/2002 - "The authors attempted to assess the utility of interferon alpha2b treatment in a Polynesian girl with a relatively severe form of congenital dyserythropoietic anemia, type 1. The diagnosis was established using routine hematologic and biochemical tests, light and electron microscopy, and electrophoresis of red cell membrane proteins. "
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 & Kościelak, 1999, Anal Biochem., 275, 171-179). "
8.	Hemoglobins (Hemoglobin)IBA 01/01/1977 - "Biosynthetic and structural studies of hemoglobin in a patient with congenital dyserythropoietic anemia type I." 08/01/2000 - "Clinical examination showed continuous arrhythmia, systolic heart murmur, enlargement of spleen and liver, and pathologic hematological parameters, thus indicating an intravasal hemolysis (elevated HBDH, bilirubin, and reticulocytes; reduced hemoglobin and haptoglobin levels), and bone-marrow-smears showed a typical cytomorphology of CDA III. The patient's diagnosis was heart failure caused by mitral valve insufficiency due to congenital atrioseptal defect associated with congenital dyserythropoietic anemia type III (CDA III)." 01/01/1972 - "DNA , histone-, RNA-, hemoglobin-content and DNA synthesis in erythroblasts in a case of congenital dyserythropoietic anemia type I."
9.	GlycolipidsIBA 10/08/1999 - "Polylactosamines accumulate as glycolipids in HEMPAS erythrocytes. " 07/08/1975 - "Accumulation of glycolipids containing N-acetylglucosamine in erythrocyte stroma of patients with congenital dyserythropoietic anemia type II (HEMPAS)." 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. "
10.	Galactose OxidaseIBA 08/01/1982 - "We report a study of HEMPAS erythrocyte membrane glycoproteins in relation to proteolytic digestion and surface labelling with galactose-oxidase/NaB[3H]4. The proteolytic digestion of band 3, the major intrinsic glycoprotein of the human erythrocyte membrane, reveals an abnormality in the outer glycosylated segment of this protein. " 01/01/1984 - "HEMPAS erythrocytes showed an abnormal glycoprotein profile when cells were labelled by the galactose oxidase/NaB[3H]4 method; Band 3 and Band 4.5 glycoproteins in HEMPAS are labelled but with less intensity although normally these proteins are the major components revealed by the same method. " 08/01/1982 - "3H incorporation in band 3 and band 4.5 glycoproteins after treatment with galactose-oxidase/NaB[3H]4 is reduced in HEMPAS red cells suggesting a defective glycosylation of these proteins. "

Therapies and Procedures

1.	Intravenous Infusions 12/01/1992 - "Upon intravenous infusion into rats, as much as 30% of the HEMPAS transferrin was cleared from the plasma circulation. "
2.	Lasers (Laser) 01/01/1999 - "In this study we report results regarding erythrocytes deformability in congenital dyserythropoietic anemia type II (HEMPAS) by the use of LORCA (Laser-assisted Optical Rotational Cell Analyzer). "
3.	Splenectomy 10/01/1991 - "Circulating nucleated red blood cells following splenectomy in a patient with congenital dyserythropoietic anemia." 01/01/1985 - "Type IV congenital dyserythropoietic anemia with an unusual response to splenectomy." 02/07/2006 - "A case of successful management with splenectomy of intractable ascites due to congenital dyserythropoietic anemia type II-induced cirrhosis." 10/01/1997 - "[Favorable effect of splenectomy on anemia in 3 siblings with type II congenital dyserythropoietic anemia (HEMPAS). " 01/01/1979 - "A 29-year old woman with a history of chronic anemia, jaundice, and splenectomy was found to have congenital dyserythropoietic anemia type II (CDA II), based on the following: marrow erythroid hyperplasia, abundance of binucleated erythroblasts, electron microscopic evidence of double membranes lining the cell membrane, erythrocyte lysis in the acidified serum test, erythrocyte agglutination and lysis by anti-i antibodies. "
4.	Hematopoietic Stem Cell Transplantation 01/01/2015 - "Successful Allogeneic Hematopoietic Stem Cell Transplantation of a Patient Suffering from Type II Congenital Dyserythropoietic Anemia A Rare Case Report from Western India." 06/01/2014 - "Successful hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia type II." 01/01/2015 - "We are here reporting a case of severe transfusion-dependent type II congenital dyserythropoietic anemia in a 5-year-old patient who has undergone allogeneic hematopoietic stem cell transplantation (HSCT) at our bone marrow transplantation centre. " 05/01/2012 - "Unrelated hematopoietic stem cell transplantation in a patient with congenital dyserythropoietic anemia and iron overload."
5.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 01/01/2015 - "We are here reporting a case of severe transfusion-dependent type II congenital dyserythropoietic anemia in a 5-year-old patient who has undergone allogeneic hematopoietic stem cell transplantation (HSCT) at our bone marrow transplantation centre. " 07/01/2002 - "Hydrops fetalis-associated congenital dyserythropoietic anemia treated with intrauterine transfusions and bone marrow transplantation."