title: [Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and HFE2 genes: a Chinese family survey].
abstract: OBJECTIVE
  To report novel mutations SEC23B gene in congenital dyserythropoietic anemia (CDA).
  
  
  METHODS
  By direct sequencing method, we sequenced CDAN1 and SEC23B genes in a Chinese CDA II patient, presented with chronic fatigue and dark urine, as well as his family members. Serum hepcidin was assayed by mass spectrometry.
  
  
  RESULTS
  We found a c.71G>A mutation and a c.74C> A mutation in the patient. In addition, a heterozygous c.55A>G mutation of HFE2 gene was found in some family members. The level of serum hepcidin of the patient was below the detection limit (<1 nmol/L).
  
  
  CONCLUSIONS
  Contrary with what have been reported previously in the Europe, especially in the Italy, the gene mutations identified in this case was different and novel. The two novel mutations contribute to the diagnosis of CDAII and are the first report in East Asian CDAII patients.
authors: Department of Hematology, Peking Union Hospital, CAMS & PUMC, Beijing 100730, China.
authors: Lu
authors: L
authors: Wang
authors: Gang
authors: G
authors: Liu
authors: Qian
authors: Q
authors: Zhang
authors: Hao
authors: H
authors: Cai
authors: Shi-wen
authors: SW
authors: Niu
authors: Bing
authors: B
authors: Han
authors: Guang-ju
authors: GJ
authors: Nie
mesh_terms: D000293:Adolescent; D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics*; D044466:Asian People / Q000235:genetics; D058851:GPI-Linked Proteins / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics; D000071020:Hemochromatosis Protein; D064451:Hepcidins / Q000097:blood*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009687:Nuclear Proteins; D010375:Pedigree; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C470477:CDAN1 protein, human; D058851:GPI-Linked Proteins; D006023:Glycoproteins; C481006:HJV protein, human; D000071020:Hemochromatosis Protein; D064451:Hepcidins; D009687:Nuclear Proteins; C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins