Background: Fancon’s Anemia (FA) is a rare genetic condition characterized by various developmental defects and bone marrow failure due to specific DNA mutation. It carries an increased risk of malignancy. The gold standard test for (FA) diagnosis is chromosomal breakage hypersensitivity to alkylating agents. There are no published data about FA among Sudanese children. The aim of this study is to review the demographic features, clinical presentation, treatment given and outcome of Sudanese children with FA admitted to a major pediatric hospital from January 2010 to January 2015.
Methods: The medical records of patients with (FA) admitted and followed at a major pediatric hospital in Khartoum state was reviewed retrospectively.
Results: A total of 40patients with confirmed diagnosis of FA were identified. The mean age of patients was 12±2.5years. The common age at presentation was 5-10years. The majority of cases were from Western Sudan (40%). Consanguinity was present in 72.5% of the patients. 80% of patients presented with bleeding. Common clinical signs were skin pigmentation (80%) and skeletal deformity (65%). All cases revealed pancytopenia and hypo-cellular bone marrow. 35% of patients died with no gender predilection. Most of deaths occurred in the age group of 10-15years (58.3%). The most common causes of deaths were bleeding (57.1%) followed by leukemia 35.7% and infections 7.1%. All patients received Danazol with variable response. No patient received bone marrow transplantation.
Conclusion: FA in Sudanese children presents with skeletal deformity and pancytopenia with a high rate of consanguinity. It affects commonly males between ages 5-10years. The most common cause of deaths was bleeding followed by malignant transformation. The problem was associated with a poor outcome.
Keywords: fanconi's anemia, Sudanese, children, hyper pigmentation, skeletal deformities, pancytopenia