Document Detail


A comprehensive study of the neonatal manifestations of congenital dyserythropoietic anemia type I.
MedLine Citation:
PMID:  15543010     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Congenital dyserythropoietic anemia (CDA) type I is an inherited disorder characterized by macrocytic anemia with pathognomonic morphologic ultrastructural features of the erythroid precursors. The authors recently cloned the CDAN1 gene and identified one founder missense mutation in all of their Bedouin patients. In a previous study, the authors found that the majority of their 31 Bedouin patients had anemia and jaundice during the first month of life and required blood transfusions; some had persistent pulmonary hypertension. In the present retrospective evaluation of 70 Bedouin patients with CDA type I, the authors more than doubled the number. Forty-five (64%) patients were symptomatic in the neonatal period, 29 (65%) had hepatomegaly, 24 (53%) had early jaundice, 11 (27%) were born small for gestational age, 7 (15%) had persistent pulmonary hypertension, and 6 (13%) had direct hyperbilirubinemia and another 6 (13%) had transient thrombocytopenia. Thirty-six of the symptomatic neonates (80%) required at least one blood transfusion. These results confirm the authors' previous findings and add neonatal manifestations not previously described, particularly hyperbilirubinemia and thrombocytopenia. Early diagnosis of CDA type I may be beneficial in light of the potential efficacy of alpha-interferon in avoiding transfusions in some patients.
Authors:
Hanna Shalev; Joseph Kapelushnik; Asher Moser; Orly Dgany; Tatyana Krasnov; Hannah Tamary
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Journal of pediatric hematology/oncology     Volume:  26     ISSN:  1077-4114     ISO Abbreviation:  J. Pediatr. Hematol. Oncol.     Publication Date:  2004 Nov 
Date Detail:
Created Date:  2004-11-15     Completed Date:  2004-12-21     Revised Date:  2011-10-06    
Medline Journal Info:
Nlm Unique ID:  9505928     Medline TA:  J Pediatr Hematol Oncol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  746-8     Citation Subset:  IM    
Affiliation:
Pediatric Hematology Unit, Soroka Medical Center, Faculty of Medicine, Ben-Gurion University, Beer Sheva, Israel. htamary@post.tau.ac.il
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MeSH Terms
Descriptor/Qualifier:
Anemia, Dyserythropoietic, Congenital / complications,  diagnosis*,  therapy
Arabs
Blood Transfusion
Glycoproteins / genetics
Hepatomegaly / etiology
Humans
Hyperbilirubinemia / etiology
Hypertension, Pulmonary / etiology
Infant, Low Birth Weight
Infant, Newborn
Jaundice / etiology
Mutation, Missense
Retrospective Studies
Thrombocytopenia / etiology
Chemical
Reg. No./Substance:
0/CDAN1 protein, human; 0/Glycoproteins

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