[Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and HFE2 genes: a Chinese family survey].

• DOI: 10.3760/cma.j.issn.0253-2727.2013.08.013
• Publication Date: 2013-08-01
• Authors: L. Wang; Gang Liu; Qian Zhang; Hao Cai; Shi wen Niu; Bing Han; Guangjun Nie
• Keywords: Compound heterozygosity

To report novel mutations SEC23B gene in congenital dyserythropoietic anemia (CDA).By direct sequencing method, we sequenced CDAN1 and genes a Chinese CDA II patient, presented with chronic fatigue dark urine, as well his family members. Serum hepcidin was assayed by mass spectrometry.We found c.71G>A mutation c.74C> A the patient. In addition, heterozygous c.55A>G of HFE2 some The level serum patient below detection limit (<1 nmol/L).Contrary what have been reported previously Europe, especially Italy, identified this case different novel. two contribute to diagnosis CDAII are first East Asian patients.