Inherited bone marrow failure syndromes (
IBMFs) account for 20% of pediatric BMFs. Although recommendations for the diagnosis and treatment of
IBMFs in China have been published recently, improvements are still needed in making precise diagnoses and properly treating pediatric patients with
IBMFs. This review provides current insights into
IBMFs in China. The data of our single institution data showed that pediatric patients with
IBMFs accounted for 7.4% of BMFs. However, the number of reported cases with
IBMFs may be underestimated than the actual morbidity in China because of limitations in the detection approaches and lacking of awareness of these diseases in local hospitals. Although patients with
IBMFs are candidates for
bone marrow transplantation or gene therapy, their phenotypic heterogeneity can delay or incompetent diagnosis. The golden standard test for
Fanconi anemia is the
chromosome breakage test, but it can be completed by few hospital and diagnostic companies in China. In addition, there are still no consistent standardized testing methods for other rare
IBMFs. Recently, the combined application of targeted capture and next-generation sequencing (NGS) provides and accurate and efficient diagnostic method for
IBMFs.