Clinical evaluation of children with Fanconi anemia referring to Dr. Sheikh Hospital, Iran, in2013-2016

Introduction: Fanconi anemia is the most common form of inherited aplastic anemia characterized by progressive bone marrow failure, congenital anomalies, and potency for malignancy. The disease is inherited as autosomal recessive, and the baby at the time of birth has a Fanconi anemia, but the time for diagnosis is often after 2 years of age. Objective: Method: This retrospective analytical cross-sectional study was conducted on 16 children with Fanconi anemia who referred to Dr. Sheikh Children s Hospital from late March 2013 to late March 2016. Data were analyzed using version 16 of SPSS software. Findings: Based on the results of this study, the number of male patients (68/8%) was more than females (31/2%). The most common abnormalities were abnormalities in the thumb (37/5%), and then hyperpigmentation, microcephaly, hepatomegaly, and testicular failure. 25% of patients did not have any abnormalities. Of the 16 patients, 4 died, of which 3 (18/8%) were due to leukemia and 1 (6/2%) was due to sepsis. The Frequency of life after diagnosis of 4 and more than 5 years were 31/2% and 37/5%, respectively. The age of diagnosis was significantly associated with the life span after diagnosis (p = 0/000), so that in children with a mean age of 2/9 years, Average life span was 4/9 years. Pancytopenia was the most common clinical complaint with 81/25% at the first visit to hospital followed by epistaxis (43/8%).75% of cases were attributed to parents and 25% had a positive family history. Conclusion: Since the disease is inherited, it is suggested that early diagnostic tests be performed in neonates with positive family history to prevent complications of the disease and increase the duration of survival.

کلیدواژه ها:

Fanconi anemia ، aplastic anemia ، survival ، anomaly