Table 1 Clinical features
Case No. | Gender | Age of referral (years) | Age of clinical BMF onset (years) | Congenital malformations | Growth retardation | Family history |
|---|---|---|---|---|---|---|
1 | M | 12 | 2 | S, C, M | Yes | Negative |
2 | M | 7 | 2 | S, C, G | Yes | Negative |
3 | M | 10 | 5 | S, G | Yes | One sibling manifested as polydactyly and died from anemia |
4 | M | 11 | 5 | C, G, M, | Yes | One sibling manifested as polydactyly and died from anemia IVF and paternal grandmother died from pancreatic cancer |
5 | F | 11 | 10 | C, H | Yes | IVF and paternal grandmother died from pancreatic cancer Negative |
6 | M | 7 | 5 | S, M | No | Negative |
7 | M | 17 | 10 | S, M | No | Negative |
8 | M | 7 | 7 | S, C, M, H | No | Negative |
9 | M | 5 | 4 | S, M | No | Negative |
10 | M | 13 | 13 | E | Yes | Negative |
11 | M | 9 | 6 | S | Yes | Negative |
12 | F | 7 | 7 | M | Yes | Negative |
13 | M | 7 | 1 | S, M | Yes | Negative |
14 | M | 5 | 2 | S | No | Negative |
15 | M | 14 | 5 | C, G | Yes | Two family members died from anemia |
16a | M | 6 | 4 | S, C, M | Yes | 2nd degree consanguinity |
17 | M | 4 | 3 | None | No | Negative |
18 | F | 9 | 4 | S, M | No | Negative |
19 | F | 7 | 4 | S, G, N | Yes | Negative |
20 | F | 6 | 3 | S, C, G | Yes | Negative |
21 | F | 6 | 4 | S, M, H, E, G | Yes | 2nd degree consanguinity |