Fnconi Anemia:a 2 Cases Report And Literature Review

Objective: To improve the Fanconi anemia in the pathogenesis,epidemiology,clinical features,diagnosis and treatment and prognosis.Methods:Clinical features and laboratory examination of 2 cases of fanconi anemia in our hospital were retrospectively analyzed,combined with the domestic and foreign literature on FA.Results :Among the 2 FA patients,the case 1 was female and the case 2was male,and the age of onset was 12 years and 17 years respectively.The clinical manifestations of case 1 were mainly recurrent fatigue caused by anemia,palpitation,and congenital double eyelid ptosis.The clinical manifestations of case 2 were recurrent fever as the first symptom,followed by fatigue,mucosal hemorrhage,normal growth and development,and no congenital malformation.All the 2 patients had no family history of malformation or blood disease,and both parents were not closely related to each other.The bone marrow changes at the onset of the disease were all aplastic anemia bone marrow images,and one patient developed MDS 16 years after the onset of the disease.Mutation of FANCA genes in case 1 and FANCI mutation in case 2.Conclusion : Young patients presenting with one or more lines ofhematopenia,especially with physical abnormalities,should be considered for screening for etiology to exclude fanconi anemia.2.If fanconi anemia is considered,it is feasible to make a clear diagnosis by chromosome break test,but the chromosome break test has false negative or false positive.With the development of detection technology,second-generation sequencing can effectively and accurately diagnose FA without false positive or false negative.