Table 1.
Main characteristics of the TPI-deficient family
| Mother heterozygote | Father heterozygote | Propositus compound heterozygote | Brother compound heterozygote | Brother heterozygote | Normal range | |
|---|---|---|---|---|---|---|
| TPI activity, units/g of Hb | 436 | 644 | 9.4 | 6.1 | 745 | 1364-1793 |
| DHAP, nmol/ml of RBC | 19.8 | 23.2 | 904.9 | 580.9 | NT | 5.08-13.0 |
| TPI substitution | 240Phe → Leu | 145 stop | 240Phe → Leu; | 240Phe → Leu; | 240Phe → Leu | None |
| 145 → stop | 145 → stop | |||||
| TPI heat instability | Partial | None | Total | Total | Partial | None |
| PCV, % | 41.4 | 41.4 | 33.3 | 31.2 | 40.0 | 37-55 |
| Hb, g/dl | 12.4 | 15.5 | 11.3 | 11.2 | 13.4 | 12-16 |
| RBC × 103/μl | 3.7 | 4.97 | 3.4 | 3.4 | 4.2 | 4.50-5.30 |
| MCV, fl | 87.0 | 83.3 | 96.0 | 96.6 | 86.4 | 77.0-93.0 |
| MCH, pg | 31.6 | 31.2 | 34.2 | 35.0 | 32.0 | 27.0-32.0 |
| MCHC, g/dl | 33.0 | 37.4 | 34.3 | 34.8 | 32.3 | 31.0-35.0 |
| Reticulocytes, % | 0.8 | 0.8 | 3.0 | 2.0 | 0.8 | 0.4-1.0 |
| Indirect sebilirubin, mg/dl Hb | 0.8 | 0.9 | 7.8 | 3.2 | 0.5 | 0.1-1.0 |
| Neurological disorder | None | None | Severe extrapyramidal | None | None | None |
NT, not tested; DHAP, dihydroxyacetone phosphate; RBC, erythrocytes; PCV, packed cell volume; Hb, hemoglobin; MCV, mean cell volume; MCH, mean cell hemoglobin; MCHC, mean cell hemoglobin concentration.