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Table 2 Clinical and hematological data of the proband and parents

From: Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family

  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  
  1. M male, F female, ND not determine