Background: Bone marrow failure syndromes are a group of diseases that could be inherited as congenital or acquired aplastic anemia. Fanconi anemia (FA) is the commonest cause of congenital aplastic anemia.
Aim: This study reports patients with congenital aplastic anemia aiming to reveal the clinical and cytogenetic differences between the two groups, (non-Fanconi and Fanconi anemia) also to compare between patients included in this study with those from different ethnic populations.
Patients and Methods: 204 patients with aplastic anemia were included (101 non-Fanconi and 103 Fanconi). Induction of chromosomal breakage by DEB was done to all patients to confirm the diagnosis of FA and to determine the degree of chromosomal breakage.
Results: Mean age of non-FA and FA patients was 10 ± 4.24 and 9 ± 4.61 years respectively with high consanguinity rate (65% 79% respectively). 24.7% of non-FA patients exhibited very severe aplastic anemia, while the majority (72.2%) exhibited severe aplastic anemia. Few patients (1.9%) had non-severe form. While, in FA patients, very severe aplastic anemia was present in 10.6%; 84.4% had severe form and 4.8 % had non-severe form. These results were significant between the two groups (p=0.02). 12.6% of FA patients showed mosaic DEB results. Comparing FA cases with one cell line and those with two cell lines regarding patients' percentiles, hematological abnormalities and degree of severity revealed no significant difference.
Conclusion: This study reports a large number of Egyptian patients diagnosed as congenital aplastic anemia with relatively high number of FA patients due to higher rate of consanguinity in Egypt. FA accounts for a significant percentage of congenital aplastic anemia and should be ruled out stressing on congenital anomalies and hematologic findings. Further evaluation of patients who share similar phenotypes and genetic studies are highly recommended to identify the dominant FA types in Egypt.