CBC and Hb HPLC results on the patient and his parents
| Test . | Patient . | Mother . | Father . |
|---|---|---|---|
| CBC | |||
| Erythrocytes, 106/μL | 3.51 | 4.12 | 4.59 |
| Hematocrit, percentage | 29.9 | 37.5 | 39.1 |
| Hemoglobin, g/dL | 10.4 | 12.6 | 14.8 |
| Leukocytes, 103/μL | 5.5 | 5.9 | 4.5 |
| Platelets, 103/μL | 384 | 256 | 193 |
| MCV, fL | 85.1 | 91 | 85.1 |
| Reticulocyte count, percentage | 4.5 | N/A | N/A |
| HPLC | |||
| Hb A2, percentage | 3.8 | 2.6 | 3.7 |
| Hb F, percentage | 0.9* | 0.3 | 0.0 |
| Hb S, percentage | 52.1 | 0 | 37.9† |
| Hb A, percentage | 43.2 | 97.1 | 58.4 |
| Test . | Patient . | Mother . | Father . |
|---|---|---|---|
| CBC | |||
| Erythrocytes, 106/μL | 3.51 | 4.12 | 4.59 |
| Hematocrit, percentage | 29.9 | 37.5 | 39.1 |
| Hemoglobin, g/dL | 10.4 | 12.6 | 14.8 |
| Leukocytes, 103/μL | 5.5 | 5.9 | 4.5 |
| Platelets, 103/μL | 384 | 256 | 193 |
| MCV, fL | 85.1 | 91 | 85.1 |
| Reticulocyte count, percentage | 4.5 | N/A | N/A |
| HPLC | |||
| Hb A2, percentage | 3.8 | 2.6 | 3.7 |
| Hb F, percentage | 0.9* | 0.3 | 0.0 |
| Hb S, percentage | 52.1 | 0 | 37.9† |
| Hb A, percentage | 43.2 | 97.1 | 58.4 |
CBC indicates complete blood count; HPLC, high-performance liquid chromatography; MCV, mean corpuscular volume; and N/A, not available.
The patient's low Hb F level may have contributed to the severity of his phenotype.
The father is heterozygous for a common α4.2 African α-thalassemia deletional mutation, explaining the lower than average Hb S percentage (data not given).