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Table 2 Diagnostic assessments and recorded results for the patient in chronological order
| Test | Age (years) | Results |
|---|---|---|
| Hemoglobin electrophoresis | 7.8 | SS disease |
| Complete blood count | 8.0 | Hb 7.5 g/dL, MCV 78 fl, retics 0.05 (proportion of red blood cells), WBC 24.0 × 109/L, platelets 250 × 109 /L |
| HbA2 range | 3.7–4.3% | |
| HbF range | 1.2–4% | |
| LE cells | 8.7 | Negative |
| Rectal biopsy | 8.8 | “Abundant muscle, numerous nerve fibers but no ganglion cells.” |
| Rectal biopsy (lowest value) | 8.9 | “No ganglion cells were seen. A few dubious nerve fibers were observed.” |
| Plain radiograph left hip | 18.5 | Unremarkable |
| Alpha globin gene number | 26.9 | Heterozygous deletional alpha thalassemia |
| Plain radiograph left hip | 53.9 | Sclerotic changes to head of femur and trochanteric area. Decreased joint space, osteophytic changes |
| Urea and electrolytes | 53.9 | K 5.8 mmol/L, creatinine 153 μmol/L (reference –males 80 μmol, females 68 μmol), Nai 134 mmol/L, Clj mmol/L, HCO3- 12 mmol/L |
| Complete blood count | 54.0 | Hb 6.0 g/dL, MCV 78 fl, retics 0.05 (proportion of red blood cells), WBC 12.0 × 109/L, platelets 262 × 109 /L. (Last SCC presentation 9 March 2012) |
