Patient characteristics
| Patient . | Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . |
|---|---|---|---|---|
| Age at the time of implementation of new transfusion strategy (years) | 6 | 16 | 15 | 14 |
| Sex | Male | Female | Male | Male |
| α Globin gene deletion | --SEA/--SEA | --SEA/--SEA | --SEA/--SEA | --SEA/--SEA |
| Proportion of Hb H before implementation of new transfusion strategy (%)* | 24 | 64 | 49 | 44 |
| Calculated functional hemoglobin before new transfusion strategy (g/L) | 79.0 | 42.7 | 52.0 | 59.3 |
| Endocrine abnormalities | None | Diabetes mellitus | Hypogonadism | Hypogonadism |
| Delayed puberty | Hypothyroidism | Growth hormone deficiency | ||
| Hypothyroidism | Growth hormone deficiency | |||
| Bone disease (lumbar Z-score <2.0) | Yes | Yes | Yes | Yes |
| Short stature (height Z-score <2.0) | Yes | Yes | Yes | Yes |
| MRI changes compatible with silent ischemic infarct | Yes | No | Yes | Yes |
| Other complications | None identified | Gout | None identified | Gall stones |
| Systemic lupus erythematosus | ||||
| Bleeding tendency | ||||
| Spleen size (cm)† | ||||
| Before intervention | 12.0 | 19.1 | 16.0 | 16.7 |
| One year after intervention | 10.2 (normal for age) | 17.8 | 14.1 | 15.2 |
| Serum erythropoetin level (mU/mL) | ||||
| Before intervention | 252.0 | 421.0 | 709.0 | 68.5 |
| One year after intervention | 46.3 | 93.4 | 31.4 | 19.6 |
| Patient . | Patient 1 . | Patient 2 . | Patient 3 . | Patient 4 . |
|---|---|---|---|---|
| Age at the time of implementation of new transfusion strategy (years) | 6 | 16 | 15 | 14 |
| Sex | Male | Female | Male | Male |
| α Globin gene deletion | --SEA/--SEA | --SEA/--SEA | --SEA/--SEA | --SEA/--SEA |
| Proportion of Hb H before implementation of new transfusion strategy (%)* | 24 | 64 | 49 | 44 |
| Calculated functional hemoglobin before new transfusion strategy (g/L) | 79.0 | 42.7 | 52.0 | 59.3 |
| Endocrine abnormalities | None | Diabetes mellitus | Hypogonadism | Hypogonadism |
| Delayed puberty | Hypothyroidism | Growth hormone deficiency | ||
| Hypothyroidism | Growth hormone deficiency | |||
| Bone disease (lumbar Z-score <2.0) | Yes | Yes | Yes | Yes |
| Short stature (height Z-score <2.0) | Yes | Yes | Yes | Yes |
| MRI changes compatible with silent ischemic infarct | Yes | No | Yes | Yes |
| Other complications | None identified | Gout | None identified | Gall stones |
| Systemic lupus erythematosus | ||||
| Bleeding tendency | ||||
| Spleen size (cm)† | ||||
| Before intervention | 12.0 | 19.1 | 16.0 | 16.7 |
| One year after intervention | 10.2 (normal for age) | 17.8 | 14.1 | 15.2 |
| Serum erythropoetin level (mU/mL) | ||||
| Before intervention | 252.0 | 421.0 | 709.0 | 68.5 |
| One year after intervention | 46.3 | 93.4 | 31.4 | 19.6 |
Characteristics of 4 homozygous α0-thalassemia patients who are being followed in our institution. All patients provided consent for publication of this report. One patient (data not shown) was born after the implementation of new transfusion strategy and has been transfused based on the new regimen since birth.
MRI, magnetic resonance imaging.
Patients’ hemoglobin analysis was performed via high-performance liquid chromatography and confirmed using capillary zone electrophoresis.
Spleen size was measured on ultrasonography.