Literature DB >> 7725852

Congenital dyserythropoietic anaemia type I. Report of two siblings from Saudi Arabia.

I M al-Fawaz1, S A al-Mashhadani.   

Abstract

This study describes two siblings (a boy and a girl) affected with congenital dyserythropoietic anaemia type I. It is the seventh familial occurrence reported. The girl presented in the neonatal period with anaemia, jaundice and hepatosplenomegaly and required 4 blood transfusions in the first 7 months of life, while her brother was discovered to be anaemic and jaundiced only at the age of 2 years and did not receive any blood transfusion.

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Year:  1995        PMID: 7725852     DOI: 10.1159/000204092

Source DB:  PubMed          Journal:  Acta Haematol        ISSN: 0001-5792            Impact factor:   2.195


  2 in total

1.  Congenital dyserythropoietic anemia type I: First report from the Congenital Dyserythropoietic Anemia Registry of North America (CDAR).

Authors:  Omar Niss; Robert B Lorsbach; Mikaela Berger; Satheesh Chonat; Morgan McLemore; David Buchbinder; Timothy McCavit; Linda G Shaffer; Jessica Simpson; Jeffrey H Schwartz; Jessica Meznarich; Myesa Emberesh; Katie G Seu; Wenying Zhang; Theodosia A Kalfa
Journal:  Blood Cells Mol Dis       Date:  2020-12-24       Impact factor: 3.039

Review 2.  The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I.

Authors:  Noémi B A Roy; Christian Babbs
Journal:  Br J Haematol       Date:  2019-03-05       Impact factor: 6.998

  2 in total

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