Table 1 Clinical and laboratory features of ten patients with CSA and results of mutation analyses
From: Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing
ID | Gender | ACD | HGB (g/L) | MCV (fL) | RDW-CV (%) | RET (%) | sFER (ng/mL) | TS (%) | RS (%) | Complications | Genetic mutation | hom/het | Result | Prognosis | Response to PPL |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | At birth | 50 | 88.1 | 15.1 | 0.68 | 505.96 | 28 | 28 | Diabetes mellitus | MtDNA 6250–12,498 del | - | COX1-ND5del | Normal HGB at 11-month-old | No |
2 | M | 0.5 m | 55 | 85.6 | 16.9 | 0.68 | 1101.9 | ND | 35 | - | MtDNA 8647–14399del | - | ATP6-ND5del | Died at 7-month-old | No |
3 | M | 14 y | 20 | 62 | 20.3 | ND | 6020 | 84 | 24 | - | ALAS2 c.1412G > A | hom | p.C471Y | Normal HGB after PPL treatment | Yes |
4 | M | 2 m | 50 | 68.8 | 34.5 | 2.06 | 450.6 | 90 | 32 | - | SLC25A38 c.400C > T | hom | p.R134C | Transfusion dependence | No |
5 | F | 5 m | 52 | 74.2 | 25.4 | 0.72 | 197 | 91 | 55 | Hypospadias | SLC25A38 c.560G > A | hom | p.R187Q | Loss to follow-up | No |
6 | M | 3 m | 49 | 74.4 | ND | 0.17 | 1434.5 | 81 | 64 | - | SLC25A38 c.260G > A,c.429delT,c.431 T > G | het | p.W87X, p.I143Pfs146X | Transfusion dependence | No |
7 | M | 5 y | 65 | 69.9 | 34.1 | 0.35 | 1296.3 | 98 | M | - | ND | - | - | Transfusion dependence | No |
8 | M | 1 y | 70 | 80.8 | 29.6 | 1.72 | 73.14 | 35 | 40 | - | c.1997_1998insTAAT, c.2155_2156ins16 | het | Frameshift mutation | Transfusion dependence | No |
9 | M | At birth | 69 | 67 | 25.9 | 0.81 | 51.3 | 88 | 40 | - | ND | - | - | Transfusion dependence | No |
10 | F | At birth | 51 | 62.1 | 35.5 | 0.41 | 554.43 | 92 | 48 | - | ND | - | - | Transfusion dependence | No |