Advances in the understanding of the congenital dyserythropoietic anaemias

Author:

Wickramasinghe Sunitha N.,Wood William G.

Abstract

SummaryThe 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 identified. Additional information on the natural history of these conditions, the beneficial role of splenectomy in CDA type II and efficacy of interferon‐α in type I have recently been reported. A disease gene has been localised to a chromosomal segment in the three major types and in CDA type I, a disease gene has been identified (CDANI). Mutations have been detected in both familial and sporadic cases but the predicted protein structure gives few clues as to its function. In both type I and II, there are cases unlinked to the identified localisations, suggesting genetic heterogeneity.

Publisher

Wiley

Reference152 articles.

1. Diseritropoyesis congénita con polyploidía eritoblástica. A propósito de una variedad hallada en la Mesopotamia argentina;Accame E.A.;Sangre,1981

2. Circulating nucleated red blood cells following splenectomy in a patient with congenital dyserythropoietic anemia

3. Human red cell Aquaporin CHIP. II. Expression during normal fetal development and in a novel form of congenital dyserythropoietic anemia.

4. Mutational analysis of the CDAN1 gene in familial and sporadic congenital dyserythropoietic anemia type I;Ahmed M.;Blood,2003

5. Alterations of Globin Chain Synthesis and of Red Cell Membrane Proteins in Congenital Dyserythropoietic Anemia I and II

Cited by 114 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. MISCELLANEOUS DISORDERS;Bone Marrow Pathology;2024-10-18

2. Congenital dyserythropoietic anemia in children: Case series with review of literature;Pediatric Hematology Oncology Journal;2024-06

3. Hemolysis-driven IFNα production impairs erythropoiesis by negatively regulating EPO signaling in sickle cell disease;Blood;2024-03-14

4. Myelodysplastic Syndrome;Decision Making Through Problem Based Learning in Hematology;2024

5. Neonatal Erythrocyte Disorders;Avery's Diseases of the Newborn;2024

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.7亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2025 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3