Main clinical and biologic characteristics of patient population
Patient . | Age, y/sex . | Genotype . | Xmn polymorphism . | Initial Hb, g/dL . | Phenotype . | Age at 1st transfusion, mo . | EC/y . | Splenectomy . |
|---|---|---|---|---|---|---|---|---|
| 1 | 12/M | Codon 6(-A)/codon 39 (C>T) | +/- | 6.7 | Intermediate | 30 | 5 | Total |
| 2 | 12/F | Codon 6(-A)/IVS1-nt1 10G>A | +/- | 6.4 | Intermediate | 48 | 3 | No |
| 3 | 16/M | Homozygous IVS1-nt1 10G>A | -/- | 4.9 | Major | 9 | 15 | Partial |
| 4 | 12/F | Homozygous codon 6(-A) | +/+ | 4.2 | Major | 13 | 15 | No |
| 5 | 8/F | Homozygous IVS1-nt1 10G>A | -/- | 5.9 | Major | 15 | 18 | No |
| 6 | 4/M | Homozygous codon 6(-A) | +/+ | 3.9 | Major | 13 | 9 | No |
| 7 | 6/M | Codon 6(-A)/codon 39(C>T) | +/- | 3.6 | Major | 16 | 13 | Total |
Patient . | Age, y/sex . | Genotype . | Xmn polymorphism . | Initial Hb, g/dL . | Phenotype . | Age at 1st transfusion, mo . | EC/y . | Splenectomy . |
|---|---|---|---|---|---|---|---|---|
| 1 | 12/M | Codon 6(-A)/codon 39 (C>T) | +/- | 6.7 | Intermediate | 30 | 5 | Total |
| 2 | 12/F | Codon 6(-A)/IVS1-nt1 10G>A | +/- | 6.4 | Intermediate | 48 | 3 | No |
| 3 | 16/M | Homozygous IVS1-nt1 10G>A | -/- | 4.9 | Major | 9 | 15 | Partial |
| 4 | 12/F | Homozygous codon 6(-A) | +/+ | 4.2 | Major | 13 | 15 | No |
| 5 | 8/F | Homozygous IVS1-nt1 10G>A | -/- | 5.9 | Major | 15 | 18 | No |
| 6 | 4/M | Homozygous codon 6(-A) | +/+ | 3.9 | Major | 13 | 9 | No |
| 7 | 6/M | Codon 6(-A)/codon 39(C>T) | +/- | 3.6 | Major | 16 | 13 | Total |
EC indicates erythrocyte concentrate—packed red blood cells.