Clinical and Hematologic Data of PK-Deficient Patients, and the Type of Mutation
| Patient . | Sex . | Origin . | Age (yr) . | Neonatal Jaundice . | ExTx . | Transfusions (U) . | Spleen . | Hb (g/dL) . | Reticulocytes (109/L) . | Unconjugated Bilirubin . | Ferritin (ng/mL) . | TS (%) . | Mutations . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| . | . | . | . | . | . | . | . | . | . | (mg/dL) . | . | . | . |
| MM | M | N | 16 | Yes | Yes | 3 | In | 10.4 | 166 | 5.46 | 88 | 33 | ms/ms |
| AI | F | N | 30 | No | No | 0 | In | 11.6 | 167 | 1.27 | 140 | 45 | ms/ms |
| RGC | M | N | 31 | No | No | 0 | In | 12.5 | 123 | 3.57 | 76 | 58 | ms/? |
| MC | F | S | 19 | No | No | 0 | In | 10.0 | 303 | 0.45 | 94 | 43 | ms/? |
| SC | F | S | 2 | Yes | Yes | 0 | In | 11.2 | 169 | 1.03 | 116 | 40 | ms/ms |
| PL | F | N | 43 | No | No | 0 | In | 10.8 | 198 | 1.75 | 186 | 29 | ms/ms |
| DA | F | N | 40 | No | No | 0 | Out | 9.5 | 1,452 | 0.44 | 540 | 90 | ms/ms |
| ZM | M | N | 12 | Yes | Yes | >50 | Out | 8.5 | 263 | 1.59 | 790 | 38 | ms/ms |
| RG | M | S | 6 | Yes | Yes | >50 | Out | 7.4 | 1,046 | 1.97 | 2,800 | 85 | ms/ms |
| IF | M | S | 18 | No | No | 2 | In | 11.6 | 222 | 2.40 | 810 | 30 | ms/ms |
| DM | M | N | 21 | No | Yes | >100 | Out | 7.4 | 1,252 | 5.62 | 716 | 49 | ss/ns |
| CA | F | S | 24 | No | No | 0 | In | 10.6 | 190 | 2.03 | 23 | 15 | ms/ms |
| PP | F | N | 24 | No | No | 0 | In | 12.9 | 130 | 3.97 | 186 | 32 | ms/? |
| FR | F | S | 6 | Yes | Yes | >100 | Out | 8.3 | 113 | 1.56 | 436 | 44 | ss/ms |
| SI | F | S | 6 | Yes | No | >50 | In | 6.9 | 154 | 3.30 | 1,440 | ND | fs/? |
| Reference value | 12.1-16.7 | 24-84 | <0.75 | 19-238 | 16-54 | ||||||||
| Patient . | Sex . | Origin . | Age (yr) . | Neonatal Jaundice . | ExTx . | Transfusions (U) . | Spleen . | Hb (g/dL) . | Reticulocytes (109/L) . | Unconjugated Bilirubin . | Ferritin (ng/mL) . | TS (%) . | Mutations . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| . | . | . | . | . | . | . | . | . | . | (mg/dL) . | . | . | . |
| MM | M | N | 16 | Yes | Yes | 3 | In | 10.4 | 166 | 5.46 | 88 | 33 | ms/ms |
| AI | F | N | 30 | No | No | 0 | In | 11.6 | 167 | 1.27 | 140 | 45 | ms/ms |
| RGC | M | N | 31 | No | No | 0 | In | 12.5 | 123 | 3.57 | 76 | 58 | ms/? |
| MC | F | S | 19 | No | No | 0 | In | 10.0 | 303 | 0.45 | 94 | 43 | ms/? |
| SC | F | S | 2 | Yes | Yes | 0 | In | 11.2 | 169 | 1.03 | 116 | 40 | ms/ms |
| PL | F | N | 43 | No | No | 0 | In | 10.8 | 198 | 1.75 | 186 | 29 | ms/ms |
| DA | F | N | 40 | No | No | 0 | Out | 9.5 | 1,452 | 0.44 | 540 | 90 | ms/ms |
| ZM | M | N | 12 | Yes | Yes | >50 | Out | 8.5 | 263 | 1.59 | 790 | 38 | ms/ms |
| RG | M | S | 6 | Yes | Yes | >50 | Out | 7.4 | 1,046 | 1.97 | 2,800 | 85 | ms/ms |
| IF | M | S | 18 | No | No | 2 | In | 11.6 | 222 | 2.40 | 810 | 30 | ms/ms |
| DM | M | N | 21 | No | Yes | >100 | Out | 7.4 | 1,252 | 5.62 | 716 | 49 | ss/ns |
| CA | F | S | 24 | No | No | 0 | In | 10.6 | 190 | 2.03 | 23 | 15 | ms/ms |
| PP | F | N | 24 | No | No | 0 | In | 12.9 | 130 | 3.97 | 186 | 32 | ms/? |
| FR | F | S | 6 | Yes | Yes | >100 | Out | 8.3 | 113 | 1.56 | 436 | 44 | ss/ms |
| SI | F | S | 6 | Yes | No | >50 | In | 6.9 | 154 | 3.30 | 1,440 | ND | fs/? |
| Reference value | 12.1-16.7 | 24-84 | <0.75 | 19-238 | 16-54 | ||||||||
Abbreviations: N, North of Italy; S, South of Italy; ExTx, exchange transfusion; Hb, mean steady-state hemoglobin; TS, transferrin saturation; ND, not determined; ms, missense mutation; ns, nonsense mutation; fs, frameshift; ss, splice site.