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dc.contributor.authorRu, Y
dc.contributor.authorLiu, G
dc.contributor.authorBai, J
dc.contributor.authorDong, S
dc.contributor.authorNie, N
dc.contributor.authorZhang, H
dc.contributor.authorZhao, S
dc.contributor.authorZheng, Y
dc.contributor.authorZhu, X
dc.contributor.authorNie, G
dc.contributor.authorZhang, F
dc.contributor.authorEyden, Brian P
dc.date.accessioned2014-07-08T14:18:49Z
dc.date.available2014-07-08T14:18:49Z
dc.date.issued2014-05
dc.identifier.citationCongenital dyserythropoietic anemia in China: a case report from two families and a review. 2014, 93 (5):773-7 Ann Hematolen
dc.identifier.issn1432-0584
dc.identifier.pmid24196372
dc.identifier.doi10.1007/s00277-013-1933-8
dc.identifier.urihttp://hdl.handle.net/10541/322587
dc.description.abstractCongenital dyserythropoietic anemias (CDAs) are a group of hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of erythroblasts in the bone marrow. Most cases of CDA, caused by a wide spectrum of mutations, have been reported from Europe and Mediterranean countries, while a few cases have been described in China. Here, we present three cases of CDA, one from one family and two from a second unrelated family, with typical morphologic features and clinical presentations. Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H). This study suggests that more patients with CDA, sharing a phenotype and genetic background like those of European and Mediterranean origin, remain to be diagnosed and reported in China.
dc.language.isoenen
dc.rightsArchived with thanks to Annals of hematologyen
dc.subject.meshAdult
dc.subject.meshAnemia, Dyserythropoietic, Congenital
dc.subject.meshAsian Continental Ancestry Group
dc.subject.meshBase Sequence
dc.subject.meshErythroblasts
dc.subject.meshErythropoiesis
dc.subject.meshFemale
dc.subject.meshGenotype
dc.subject.meshGlycoproteins
dc.subject.meshHeterozygote
dc.subject.meshHomozygote
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMolecular Sequence Data
dc.subject.meshMutation
dc.subject.meshPedigree
dc.subject.meshPhenotype
dc.subject.meshVesicular Transport Proteins
dc.titleCongenital dyserythropoietic anemia in China: a case report from two families and a review.en
dc.typeArticleen
dc.contributor.departmentInstitute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, State Key Laboratory of Experimental Haematology, Tianjin, Chinaen
dc.identifier.journalAnnals of Hematologyen
html.description.abstractCongenital dyserythropoietic anemias (CDAs) are a group of hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of erythroblasts in the bone marrow. Most cases of CDA, caused by a wide spectrum of mutations, have been reported from Europe and Mediterranean countries, while a few cases have been described in China. Here, we present three cases of CDA, one from one family and two from a second unrelated family, with typical morphologic features and clinical presentations. Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H). This study suggests that more patients with CDA, sharing a phenotype and genetic background like those of European and Mediterranean origin, remain to be diagnosed and reported in China.


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