Skip to main content

Table 1 Hematologic parameters and molecular data

From: Two novel C-terminal frameshift mutations in the β-globin gene lead to rapid mRNA decay

 

Family 1

Family 2

 

Patient 1

Sister of Patient 1

Mother of Patient 1

Patient 2

Brother of Patient 2

Age (years)

6

1.2

38

10

2

RBC (10^6/uL)

2.7

3.4

2.6

2.9

4.7

Hb (g/dL)

6.2

8.7

7.7

7.4

12.4

MCV (fL)

74

80.7

93

90.4

79.4

RDW (%)

34.4

21.3

26.9

35.8

14.3

Retics (% of RBC)

22.60

N.D.

15.83

11.43

1.92

HbA2 (%)

3.2

2.2

4.05

4.3

3.4

HbF (%)

9.5

22.5

12.9

4.0

2.1

XmnI polymorphism

+/−

+/−

+/+

−/−

N.D.

β-globin mutation

c.375_376 insCCAGT/βN

c.375_376 insCCAGT/βN

c.375_376 insCCAGT/βN

c.349 delC/βN

βN/ βN