A study on the diagnosis and treatment of Diamond-Blackfan anemia associated with RPL35A gene mutation
Objective To explore the clinical manifestations and genotype characteristics of Diamond-Blackfan anemia(DBA)caused by mutations in the ribosomal protein L35A(RPL35A)gene(RPL35A-DBA)in children.Method Relevant literature on pediatric RPL35A-DBA with relatively complete data in the past 15 years at home and abroad was collected to summarize,compare,and analyze the clinical manifestations,gene sequencing results,and drug efficacy of these cases.Result A total of 50 cases of RPL35A-DBA in children were collected.The main characteristics of pediatric RPL35A-DBA were as follows.Age and gender:90％of cases started within 1 year old,with a median onset age of 3 months.The diagnosis age was relatively late,with an average of 2 years old.There was no significant difference in the incidence rate between men and women(P＞0.05).Hematopoietic disorders:the main manifestation was moderate to severe anemia,with 54％(27/50)relied on blood transfusion,and most(68％,34/50)accompanied by granulocytopenia,while platelet levels were normal.Gene mutation:the phenotype of the large deletion type(n=22)was more severe than that of the non-large deletion type(n=28),and the incidence of hematopoietic system abnormalities,immune deficiency,intellectual disability,craniofacial deformity,and skeletal dysplasia were significantly increased(P＜0.05).Drug therapy:the main treatment drug was glucocorticoid(GC),and component blood transfusion combined with iron removal therapy should be given as appropriate.If necessary,allogeneic hematopoietic stem cell transplantation(allo-HSCT)should be performed.Conclusion RPL35A-DBA is more common in children with early onset after birth,and the degree of gene deficiency is closely related to the severity of clinical manifestations.For some cases,GC is effective,but the minimum maintenance dose is required,and allo-HSCT should be performed for severe cases.For suspected cases of RPL35A-DBA,timely genetic testing should be conducted to aid in early diagnosis and effective clinical intervention.
ribosomal protein L35A gene mutationDiamond-Blackfan anemiacongenital bone marrow failure diseaseearly diagnosis and treatmentmedication
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