Congenital dyserythropoietic anemia
DOI:
https://doi.org/10.5281/zenodo.10096493Cuvinte cheie:
Congenital dyserythropoietic anemia, Hereditary anemia, Iron overloadRezumat
Congenital dyserythropoietic anemia (CDA) is a rare inherited hematological disorder characterized by impared erythroblast maturation, leading to anemia. An overview of CDA with an emphasis on its molecular underpinnings, clinical characteristics and manifestations are provided in this article.
Mutations in crucial genes for erythroid differentiation, which affect nuclear morphology and hemoglobin production, are part of the pathopshysiology of CDA. Jaundice, hepatosplenomegaly and anemia are a few examples of the clinical symptoms. Genetic test and bone marrow analysis are used for diagnosis.
Referințe
Achille Iolasoon, Immacolata Andolfo, Roberta Russo, Congenital dyserythropoietic anaemias; Blood (2020) 136 (11): 1274-1283
Iolascon A., Heimpel H., Wahlin A., Tamary H., Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood. 2013; 122 (13): 2162-2166
Noémi B. A. Roy, Christian Babbs, The pathogenesis, diagnosis and management of congenital dyserytrhopoietic anaemia type I; Br J Haematol. 2019 May; 185 (3): 436-449
Babbs C., Roberts N.A., Sanchez-Pulido L., McGowan S.J., Ahmed M.R., Brown J.M., Sabry M.A., Bentley D.R., McVean G.A., Donnelly P., Gileadi O., Ponting C.P., Higgs D.R., Buckle V.J., Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anaemia type I. Haematologica, 98: 1383-1387
Satchwell T.J., Pellegrin S., Bianchi P. et ll, Characteristic phenotypes associated with congenital dyserythropoietic anemia (type II) manifest at different stage of erythropoiesis. Haematologica. 2013; 98 (11): 1788-1796
Sankaran V.G., Ulirsch J.C., Tchaikovskii V. et al, X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation. J Clin Invest. 2015; 125 (4): 1665-1669
Ferguson P.J., Chen S., Tayeh M.K., et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005; 42 (7): 551-557
F. Fioredda, P. Farruggia, M. Miano, C. Dufour, Chapter 20 – Severe Congenital Neutropenias and Other Rare Inherited Disorders With Marrow Failure – Congenital Dyserythropoietic Anemia
Liu G., Niu S., Dong A. et al. A Chinese family carrying novel mutations in SEC23B and HFE2, the genes responsible for congenital dyserythropoietic anaemia II (CDA II) and primary iron overload, respectively. Br. J Haematol. 2012; 158 (1): 143-145
Muhammed Mujeeb Hassan, Azka A. Mirza, Rafay Zaidi, Moeena Malik, Maham Javaid, Congenital Dyserythropoietic Anemia Type II: A Case Report
Descărcări
Publicat
Cum cităm
Licență
Copyright (c) 2023 Andreea Tudor
TAceastă lucrare este licențiată în temeiul Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
