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Int J Hematol (2013) 97:650653 DOI 10.1007/s12185-013-1338-4
CASE REPORT
Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia
Hisanori Fujino Sayoko Doisaki Young-Dong Park
Asahito Hama Hideki Muramatsu
Seiji Kojima Shinichi Sumimoto
Received: 16 January 2013 / Revised: 9 April 2013 / Accepted: 11 April 2013 / Published online: 19 April 2013 The Japanese Society of Hematology 2013
Abstract The congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of genetic disorders of red cell production. They are characterized by ineffective erythropoiesis and dyserythropoiesis. Here, we present the clinical description and mutation analysis of a Japanese female with CDA type 1. She has long been diagnosed with unclassied congenital hemolytic anemia from the neonatal period. However, bone marrow morphology and genetic testing of the CDAN1 gene at the age of 12 years conrmed the afore-mentioned diagnosis. Thus, we should be aware of the possibility of CDA if the etiology of congenital anemia or jaundice cannot be clearly elucidated.
Keywords Congenital dyserythropoietic anemia
CDAN1 gene Congenital hemolytic anemia
Introduction
The congenital dyserythropoietic anemias (CDAs) comprise a group of very rare hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of the erythroblasts in the bone marrow [1]. Morphological analysis is the rst step in the diagnosis of all types of CDA, followed by conrma-tory tests [2]. The diagnosis of CDAs can be delayed due to
their rarity and lack of information (especially in non-severe cases) [35].
On the basis of the dysplastic changes observed in bone marrow erythroblasts by light and electron microscopy, the mode of inheritance and the associated dysmorphism, CDAs have been divided into 3 major types: CDA types 1, 2, and 3. Responsible genes have been identied for CDA type 1 (CDAN1) [6] and CDA type 2 (SEC23B) [7], not for CDA type 3.
In this brief report, we describe a unique case of CDA type 1 previously diagnosed as unclassied congenital hemolytic anemia. Marked erythroid dysplasia and the detection of a novel mutation in the CDAN1 gene aided in accurately diagnosing the condition.
Case report
A 12-year-old female was referred to our hospital for further evaluation of persistent anemia after gastroenteritis. She had no family history of hemolytic anemia, was born at...