Hematologic data and ALAS2 exon 11 sequence (from nucleotide 1725 to 1736)
| Subject . | Sex/age, y . | Hb g/dL . | MCV fL . | RDW* % . | Serum ferritin μg/L . | ALAS2 paternal allele† . | ALAS2 maternal allele† . |
|---|---|---|---|---|---|---|---|
| Proband (II-2) | |||||||
| At clinical onset | M/38 | 7.6 | 64 | 30.9 | 859 | — | GTCGCCATCCTG |
| Under treatment | M/42 | 10.1 | 69 | 25.9 | 142 | — | GTCGCCATCCTG |
| Subject II-3, first study | M/36 | 14.1 | 83 | 14.2 | 124 | — | GTCGCCATCCTG |
| Second study | M/37 | 14.7 | 85 | 13.7 | ND | — | GTCGCCATCCTG |
| Third study | M/40 | 13.7 | 82 | 13.9 | 110 | — | GTCGCCATCCTG |
| Subject II-4 | F/36 | 13.1 | 83 | 15.5 | 28 | GTCGCCGTCCTG | GTCGCCATCCTG |
| Subject II-3′s daughters | |||||||
| III-5 | F/17 | 12.1 | 86 | 14.1 | ND | GTCGCCATCCTG | GTCGCCGTCCTG |
| III-7 | F/12 | 11.6 | 77 | 14.6 | ND | GTCGCCATCCTG | GTCGCCGTCCTG |
| III-8 | F/6 | 11.5 | 81 | 14.7 | ND | GTCGCCATCCTG | GTCGCCGTCCTG |
| Subject III-10 | F/11 | 12.9 | 76 | 14.1 | ND | GTCGCCGTCCTG | GTCGCCATCCTG |
| Normal ranges | |||||||
| Adult females | 12.0-16.0 | 83-97 | 11-14 | 12-150 | |||
| Adult males | 13.0-17.0 | 83-97 | 11-14 | 20-250 | |||
| Children (6-12 years) | 11.5-15.5 | 75-95 | 11-14 | 10-50 |
| Subject . | Sex/age, y . | Hb g/dL . | MCV fL . | RDW* % . | Serum ferritin μg/L . | ALAS2 paternal allele† . | ALAS2 maternal allele† . |
|---|---|---|---|---|---|---|---|
| Proband (II-2) | |||||||
| At clinical onset | M/38 | 7.6 | 64 | 30.9 | 859 | — | GTCGCCATCCTG |
| Under treatment | M/42 | 10.1 | 69 | 25.9 | 142 | — | GTCGCCATCCTG |
| Subject II-3, first study | M/36 | 14.1 | 83 | 14.2 | 124 | — | GTCGCCATCCTG |
| Second study | M/37 | 14.7 | 85 | 13.7 | ND | — | GTCGCCATCCTG |
| Third study | M/40 | 13.7 | 82 | 13.9 | 110 | — | GTCGCCATCCTG |
| Subject II-4 | F/36 | 13.1 | 83 | 15.5 | 28 | GTCGCCGTCCTG | GTCGCCATCCTG |
| Subject II-3′s daughters | |||||||
| III-5 | F/17 | 12.1 | 86 | 14.1 | ND | GTCGCCATCCTG | GTCGCCGTCCTG |
| III-7 | F/12 | 11.6 | 77 | 14.6 | ND | GTCGCCATCCTG | GTCGCCGTCCTG |
| III-8 | F/6 | 11.5 | 81 | 14.7 | ND | GTCGCCATCCTG | GTCGCCGTCCTG |
| Subject III-10 | F/11 | 12.9 | 76 | 14.1 | ND | GTCGCCGTCCTG | GTCGCCATCCTG |
| Normal ranges | |||||||
| Adult females | 12.0-16.0 | 83-97 | 11-14 | 12-150 | |||
| Adult males | 13.0-17.0 | 83-97 | 11-14 | 20-250 | |||
| Children (6-12 years) | 11.5-15.5 | 75-95 | 11-14 | 10-50 |
Hb indicates hemoglobin; MCV, mean corpuscular volume; ND, not determined; and —, not applicable.
RDW indicates red-cell distribution width, that is, the standard deviation of the mean red-cell volume expressed as percentage of the mean red-cell volume. The RDW values of the 5 heterozygous women (II-4, III-5, III-7, III-8, III-10) ranged from 14.1% to 15.5% (mean ± SD: 14.6% ± 0.6%) whereas those from 5 healthy[AU4] female family members ranged from 12.0% to 13.0% (mean ± SD: 12.1% ± 0.4%).
Wild-type sequence: GTCGCCGTCCTG. Mutations are shown in bold.