Hematologic and related studies in the propositus, before treatment with vitamin C, and her relatives
| Variable (units), normal range . | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Subject . | Hb (g/dL), 12-16 . | MCV (fL), 80-94 . | MCH (pg), 27-32 . | HbF (%), < 1 . | HbA2 (%), 2.3-3.2 . | HbE (%), 0 . | Met Hb (%), 0.1-0.6 . | P50 (mm Hg), 24.1-27.2 . | Cytb5R (U/gHb), 11.5-26.9 . | GAPD (IU/gHb), 142.2-308.9 . | Glutathione reductase (U/gHb), 4.7-13.2 . | G6PD deficiency screening test . |
| Propositus | 6.4 | 74.3 | 21.0 | 18.7 | 76.7 | 10.7-13.6 | 21.3-23.6 | 50.7 | 301.5 | 9.81 | Normal | |
| Mother | 10.7 | 54.9 | 15.8 | < 1 | 4.2 | 1.9 | 26.5 | 28.9 | 271.0 | 13.0 | Normal | |
| Father | 14.2 | 78.0 | 23.9 | < 1 | 24.9 | 0.7 | 25.2 | 17.7 | 230.0 | 5.5 | Normal | |
| Brother | 14.6 | 81.5 | 28.5 | < 1 | 2.6 | 0.5 | 25.2 | 14.6 | Normal | |||
| Sister | 13.0 | 84.5 | 29.6 | < 1 | 2.6 | 0.4 | 25.3 | 21.8 | Normal | |||
| Variable (units), normal range . | ||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Subject . | Hb (g/dL), 12-16 . | MCV (fL), 80-94 . | MCH (pg), 27-32 . | HbF (%), < 1 . | HbA2 (%), 2.3-3.2 . | HbE (%), 0 . | Met Hb (%), 0.1-0.6 . | P50 (mm Hg), 24.1-27.2 . | Cytb5R (U/gHb), 11.5-26.9 . | GAPD (IU/gHb), 142.2-308.9 . | Glutathione reductase (U/gHb), 4.7-13.2 . | G6PD deficiency screening test . |
| Propositus | 6.4 | 74.3 | 21.0 | 18.7 | 76.7 | 10.7-13.6 | 21.3-23.6 | 50.7 | 301.5 | 9.81 | Normal | |
| Mother | 10.7 | 54.9 | 15.8 | < 1 | 4.2 | 1.9 | 26.5 | 28.9 | 271.0 | 13.0 | Normal | |
| Father | 14.2 | 78.0 | 23.9 | < 1 | 24.9 | 0.7 | 25.2 | 17.7 | 230.0 | 5.5 | Normal | |
| Brother | 14.6 | 81.5 | 28.5 | < 1 | 2.6 | 0.5 | 25.2 | 14.6 | Normal | |||
| Sister | 13.0 | 84.5 | 29.6 | < 1 | 2.6 | 0.4 | 25.3 | 21.8 | Normal | |||
Cytb5R indicates cytochrome b5 reductase; GAPD, glyceraldehyde phosphate dehydrogenase; G6PD, glucose-6-phosphate dehydrogenase; Hb, hemoglobin; MCH, mean cell hemoglobin; Met, methemoglobin; and MCV, mean cell volume.