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The congenital dyserythropoieitic anemias: genetics and pathophysiology.
King R, Gallagher PJ, Khoriaty R. King R, et al. Curr Opin Hematol. 2022 May 1;29(3):126-136. doi: 10.1097/MOH.0000000000000697. Epub 2021 Dec 24. Curr Opin Hematol. 2022. PMID: 35441598 Free PMC article. Review.
PURPOSE OF REVIEW: The congenital dyserythropoietic anemias (CDA) are hereditary disorders characterized by ineffective erythropoiesis. ...Additional recent advances included the identification of new CDA genes, RACGAP1 and VPS4A, in CDAIII and a syndromic CDA ty …
PURPOSE OF REVIEW: The congenital dyserythropoietic anemias (CDA) are hereditary disorders characterized by ineffective erythr …
Congenital dyserythropoietic anaemia type II (HEMPAS) and its molecular basis.
Fukuda MN. Fukuda MN. Baillieres Clin Haematol. 1993 Jun;6(2):493-511. doi: 10.1016/s0950-3536(05)80156-8. Baillieres Clin Haematol. 1993. PMID: 8043936 Review.
Congenital dyserythropoietic anaemia type II (CDA II) is a rare genetic anaemia in humans, inherited in an autosomally recessive mode. ...An aberrant glycosylation pattern is seen in the polylactosamine carbohydrates which are normally attached to the …
Congenital dyserythropoietic anaemia type II (CDA II) is a rare genetic anaemia in humans, inherited in an autos …
[Congenital dyserythropoietic anemia type II: a case report and literature review].
Li Y, Zhao X, Zhou K, Li Y, Li JP, Ye L, Peng GX, Fan HH, Jing LP, Zhang L, Zhang FK. Li Y, et al. Zhonghua Xue Ye Xue Za Zhi. 2012 Apr;33(4):270-3. Zhonghua Xue Ye Xue Za Zhi. 2012. PMID: 22781715 Review. Chinese.
OBJECTIVE: To investigate the clinical and laboratory features of congenital dyserythropoietic anemia type II (CDA-II) in order to improve the recognition of the disease. ...Electron microscopy examination revealed stretches of double membrane lining t …
OBJECTIVE: To investigate the clinical and laboratory features of congenital dyserythropoietic anemia type II (C …
Congenital Hemolytic Anemias: Is There a Role for the Immune System?
Zaninoni A, Fermo E, Vercellati C, Marcello AP, Barcellini W, Bianchi P. Zaninoni A, et al. Front Immunol. 2020 Jun 23;11:1309. doi: 10.3389/fimmu.2020.01309. eCollection 2020. Front Immunol. 2020. PMID: 32655575 Free PMC article. Review.
They are characterized by variable degree of anemia, chronic extravascular hemolysis, reduced erythrocyte life span, splenomegaly, jaundice, biliary lithiasis, and iron overload. ...Median Hb increase is 3 g/dL in HS, 1.6-1.8 g/dL in pyruvate kinase deficiency (PKD), and 1 …
They are characterized by variable degree of anemia, chronic extravascular hemolysis, reduced erythrocyte life span, splenomegaly, ja …
[New mutation site of SEC23B gene in type congenital erythrocythememia anemia: one case report and literatures review].
Chang LX, Zhu XF, Wang YW, Dong SX, Zhao SX, Ru YX. Chang LX, et al. Zhonghua Xue Ye Xue Za Zhi. 2019 Apr 14;40(4):317-320. doi: 10.3760/cma.j.issn.0253-2727.2019.04.010. Zhonghua Xue Ye Xue Za Zhi. 2019. PMID: 31104444 Free PMC article. Review. Chinese.
Objective: To enrich the gene mutation sites and accumulate treatment experience of congenital dyserythropoietic anemia (CDA) type by reporting one case of CDA patient with new mutation site of SEC23B and was successfully treated by homozygous allogene …
Objective: To enrich the gene mutation sites and accumulate treatment experience of congenital dyserythropoietic anemia …
Advances in the understanding of the congenital dyserythropoietic anaemias.
Wickramasinghe SN, Wood WG. Wickramasinghe SN, et al. Br J Haematol. 2005 Nov;131(4):431-46. doi: 10.1111/j.1365-2141.2005.05757.x. Br J Haematol. 2005. PMID: 16281933 Free article. Review.
The congenital dyserythropoietic anaemias (CDAs) are a heterogeneous group of diseases in which the anaemia is predominantly caused by dyserythropoiesis and marked ineffective erythropoiesis; three major (types I, II and III) and several minor subgroups have been id …
The congenital dyserythropoietic anaemias (CDAs) are a heterogeneous group of diseases in which the anaemia is predominantly c …
Gilbert's syndrome accounts for the phenotypic variability of congenital dyserythropoietic anemia type II (CDA-II).
Perrotta S, del Giudice EM, Carbone R, Servedio V, Schettini F Jr, Nobili B, Iolascon A. Perrotta S, et al. J Pediatr. 2000 Apr;136(4):556-9. doi: 10.1016/s0022-3476(00)90026-x. J Pediatr. 2000. PMID: 10753261 Review.
The molecular basis for the considerable variation of serum bilirubin levels and the incidence of gallstone formation in patients with congenital dyserythropoietic anemia (CDA) type II are unknown. We show that the combined effect of an increased bilir …
The molecular basis for the considerable variation of serum bilirubin levels and the incidence of gallstone formation in patients with co …
Congenital dyserythropoietic anemia type I presenting as persistent pulmonary hypertension of the newborn.
Shalev H, Moser A, Kapelushnik J, Karplus M, Zucker N, Yaniv I, Tamary H. Shalev H, et al. J Pediatr. 2000 Apr;136(4):553-5. doi: 10.1016/s0022-3476(00)90025-8. J Pediatr. 2000. PMID: 10753260 Review.
Congenital dyserythropoietic anemia (CDA) is a rare group of inherited bone marrow disorders characterized by anemia with ineffective erythropoiesis. ...We suggest that the diagnosis of CDA type I should be considered in any neonate with PPHN an …
Congenital dyserythropoietic anemia (CDA) is a rare group of inherited bone marrow disorders characterized by anemia …
HEMPAS. Hereditary erythroblastic multinuclearity with positive acidified serum lysis test.
Fukuda MN. Fukuda MN. Biochim Biophys Acta. 1999 Oct 8;1455(2-3):231-9. doi: 10.1016/s0925-4439(99)00070-8. Biochim Biophys Acta. 1999. PMID: 10571015 Free article. Review.
Congenital dyserythropoietic anemia type II or HEMPAS (hereditary erythroblastic multinuclearity with positive acidified serum lysis test) is a genetic anemia in humans caused by a glycosylation deficiency. Erythrocyte membrane glycoproteins, su …
Congenital dyserythropoietic anemia type II or HEMPAS (hereditary erythroblastic multinuclearity with positive a …
[Diagnosis and genetics of congenital dyserythropoietic anemias (CDA)].
Rössler J, Havers W. Rössler J, et al. Klin Padiatr. 2000 Jul-Aug;212(4):153-8. doi: 10.1055/s-2000-9669. Klin Padiatr. 2000. PMID: 10994542 Review. German.
The congenital dyserythropoietic anemias (CDA) are hereditary diseases characterized by a lifelong, mostly moderate anemia. ...Type II shows a normocytic anemia with a positive acidified serum test and increased agglutination with anti-i. ...
The congenital dyserythropoietic anemias (CDA) are hereditary diseases characterized by a lifelong, mostly moderate anemia …
12 results