Table 2 Clinical and hematological data of the proband and parents

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