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Article

Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations.

British journal of haematology - 1 Nov 2016

Bianchi Paola, Schwarz Klaus, Högel Josef, Fermo Elisa, Vercellati Cristina, Grosse Regine, van Wijk Richard, van Zwieten Rob, Barcellini Wilma, Zanella Alberto, Heimpel Hermann

Abstract excerpt

Congenital dyserythropoietic anaemia type II (CDAII) is a rare autosomal recessive disease characterized by ineffective erythropoiesis, haemolysis, erythroblast morphological abnormalities, hypoglycosylation of some red blood cell membrane proteins, particularly band 3, and mutations in the SEC23B gene. We report the analysis of 101 patients from 91 families with a median follow-up of 23 years (range 0-65); 68...

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Identifiers

PMID: 27471141
DOI: 10.1111/bjh.14271

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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