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Table 6 Hematological parameters of the 5 heterozygous cocarriers of the β-globin gene mutation and the α-globin gene triplication

From: Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China

Subject ID

Mut-01

Mut-02

Mut-03

Mut-04

Mut-05

β-gene defects

Cds 41/42 (-TTCT) beta0

Cds 71/72 (+ A) beta0

IV-II-654 (C > T) beta+

Cds 41/42 (-TTCT) beta0

Cd17 (AAG > TAG) beta0

α genotypes

αα/ααα4.2

αα/ααα3.7

αα/ααα3.7

αα/ααα4.2

αα/ααα4.2

Anemia

severe

mild

mild

mild

no

Sex

M

M

M

M

F

Age (years)

14

5

7

7

19

HGB (g/L)

59

80

85

78

134

MCV (fL)

58

68

73

59.6

97.5

MCH

17

25

24

18.5

30.9

HbA

97.7

90

91.9

97.5

HbA2

4.3

3.7

5.8

2.5

HbF

2.3

Hepato-splenomegaly

Splenomegaly

Splenomegaly

Transfusion

Y

N

N

N

N

Treatment and prognosis

b

a

a

c

a

  1. Cd, codon; M, male; F, female; Y, yes; N, no; a, no treatment and occasional follow-up; b, transfusion treatment (HGB < 80 g/L, transfused with washed red blood cells) and regular follow-up; c, transfusion treatment (HGB < 80 g/L, transfused with washed red blood cells) and occasional follow-up