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 |