Clinical features of Diamond-Blackfan anemia and gene testing / 临床儿科杂志

ABSTRACT

Objective To investigate the clinical and genetic features of Diamond-Blackfan anemia (DBA).Method The clinical manifestations and genetic tests of 2 cases with DBA were retrospectively analyzed,and the related literatures were reviewed.Results Two female patient (3-4 month old) with progressive ochriasis nearly a month was included.Fever,seizure,vomit and abnormal change in urine and stool routine test were not shown.Blood routine testthe number of RBC in the two patients was decreased (1.24 × 1012/L and 1.48× 1012/L),HGB (46 g/L and 39 g/L),and the number of RTC was also decreased (4.1 × 109/L and 4.3 × 109/L),RCV was normal (108.4 fl).Serum iron determinationFe (44.3 mmol/L and 41.5 mmol/L) and ferritin (469.2 mmol/L and 491.7 ng/mL) were increased,transferrin was in the normal range.Erythrocyte fragility test resulted normal.Bone marrow examination found rarely erythroblasts.A novel heterozygous mutation in RPS19 gene,c.91C＞T (p.P31S),was found by genetic testing on patient 1.And we found a heterozygous mutation in RPL5 gene (c.472_473del) in patient 2.Conclusion The majority of onset age of childhood DBA was within a few months with a erythroid deficiency.And RPS19 gene mutation is a common cause of this disease.The mutation of c.91C＞T (p.P31 S) has not been reported.