7Clinical Cases Report And Literature Review Of Of Fanconi Anemia

Objective: Fanconi anemia is a rare autosomal recessive or X-linkedgenetic disease. This study explores the predisposition, clinicalmanifestations, diagnosis，treatment and prognosis of fanconi anemia, andimproves the understanding of fanconi anemia.Methods：The clinical features, laboratory examination，diagnosis andtreatment of7patients in our hospital were Retrospective analysis，combined with the domestic case reports and foreign literature on FA.Results：7patients were diagnosed with fanconi anemia in ourhospital, including6males and1female. The onset ages from3to13yearsold. All of them had apparent congenital malformations and pancytopenia.The anemia was macrocyte and the peripheral blood lymphocytepercentage increased. The number of Fetal hemoglobin was increased in5patients.2patients have no changes in bone marrow.2patients correspondto the diagnostic criteria of the FA by International Fanconi anemiaConference in2006. The rest are all clinical diagnosis. Duringhospitalization, all the patients only accept support and anti-infectiontreatment.4cases were lost to follow-up.1patient died of infection.1 patient died of hemorrhage.1patient has mild bone marrow failure，and hasbeen followed up for2months.Conclusion：The female patients have latter onset age in fanconianemia. The congenital malformations in our country include endocrineabnormalities, pigmentation, skeletal deformities, ear deformities, kidneysand reproductive abnormalities. The bone marrow change in fanconianemia is probably a gradual process. Some cases develop fast, while othersdevelop slow, and eventually evolve into aplastic anemia. Chromosomesbreakage test is a classical way to diagnose FA and genetic testing can beused to diagnose FA from the perspective of molecular genetics. So far, thehematopoietic stem cell transplantation is the unique measure to improve thehematopoietic environment and survival. Age, blood transfusion, theexhaustion degree of hematopoietic system, CMV infection, the number ofdeformity, donor gender and the application of androgen are closely relatedto prognosis. Physicians in different levels have different understandings ofFA. Early diagnosis is difficult. Strengthening the cooperation of all levels ofhospitals and professional inspection agency will contribute to thedevelopment of the diagnosis and treatment of FA.