Table 2.
Clinical and hematological data of the proband and parents
| Proband | Father | Mother | Normal range | |
|---|---|---|---|---|
| Age/Sex | 5y/M | 36y/M | 30y/F | – |
| Place of origin | Kolhapur Maharashtra | |||
| Hematological | ||||
| White Blood cell (× 103/µl) | 9.1 | 8.0 | 9.1 | 4–10 |
| Red blood cell (× 106/µl) | 2.14 | 5.03 | 4.53 |
M-4.5–5.5 F-3.8–4.8 |
| Hemoglobin (g/dl) | 6.1 | 14.1 | 11.6 |
M-13–17 F-12–16 |
| Hematocrit (%) | 18.5 | 45.7 | 35.7 |
M-45–50 F-37–45 |
| Mean corpuscular volume (fl) | 86.4 | 91.0 | 78.8 | 80–100 |
| Mean corpuscular hemoglobin (Pg) | 28.5 | 28.0 | 25.6 | 27–32 |
| Mean corpuscular hemoglobin concentration (g/dl) | 33 | 30.8 | 32.5 | 32–36 |
| Platelet (× 103/µl) | 111 | 487 | 291 | 150–400 |
| Red cell distribution width (%) | 23.9 | 13.5 | 15.8 | 11.6–14 |
| Retic count (%) | 0.8 | ND | ND | < 2.0 |
| Biochemical | ||||
| Lactate dehydrogenase (U/L) | 3400 | ND | ND | 140–280 |
| Total bilirubin (mg/dl) | 2.3 | ND | ND | 0.1–1.2 |
| Direct bilirubin (mg/dl) | 0.8 | ND | ND | < 0.3 |
| Hemoglobin F (%) | 1.3 | 0.0 | 0.0 | < 2.0 |
| Hemoglobin A2 (%) | 3.0 | 3.2 | 3.0 | 1.5–3.5 |
| Glucose-6 phosphate dehydrogenase (IU/gHb) | 5.57 | 6.32 | 5 | 4.0–13.0 |
| Pyruvate kinase (IU/gHb) | 9.1 | 10.30 | 8.2 | 8.0–14.0 |
| Glucose phosphate isomerase (IU/gHb) | 59.6 | 62.5 | 63 | 45–75 |
| EMA (MCF) | 980.97 | 956.70 | 946.85 | 900–1300 |
| Molecular | ||||
| Nucleotide change | c.301C > A | |||
| Amino acid change | p. Gln101Lys | |||
| Zygosity | Homozygous | Heterozygous | Heterozygous | |
M male, F female, ND not determine