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Table 1 Analytical results of the index case and family

From: Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in the diagnosis and search for a donor for bone marrow transplantation for one of their children

 

Index case (8 months old)

Twin 1

Twin 2

Sister

Mother

Father

Rev. values

Gender

α genotype

αααanti 3.7/αα

αααanti3.7/αααanti3.7

αααanti3.7/αααanti3.7

Αααanti3.7/-

αααanti3.7/αα

αααanti3.7/αααanti3.7

β genotype

β++

β+/N (normal)

β+/N (normal)

β+/N (normal)

β+/N (normal)

HbA2

1.7

5.6

5.70

5.5

4.7

5.4

HbF

90.0

3.10

3.20

2.60

1.1

2.3

Hb (gr/dL)

6.2

10.8

9.3

10.0

8.5

11.2

13.2–18.0

Hct (%)

20.0

34.9

29.8

31.9

27.5

35.9

39.0–51.0

Red blood cells (×109/L)

2.68

5.92

5.11

5.47

4.00

5.89

4.32–5.66

MCV (fL)

74.40

58.80

58.20

58.40

68.80

60.90

80.0–98.0

MCH (pg)

22.90

18.20

18.20

18.30

21.30

19

27.30–32.60

Reticulocytes (%)

4.14

1.57

2.30

2.70

3.65

0.80–2.50

Leukocytes (×109/L)

16.0

10.9

12.1

6.40

8.6

8.4

3.7–9.5

Platelets (×109/L)

150

351

398

238

263

230

125–450

Ferritin (ng/mL)

99.9

64.2

95.8

147.7

16.2

743.4

12–300

LDH (mg/dL)

449

350

388

369

233

180–430

Total bilirubin (mg/dL)

1.40

0.37

1.01

1.35

0.60

0.30–1.20

Direct bilirubin (mg/dL)

0.31

0.09

0.26

0.0–0.20

Clinical signs and symptoms

Severe anemia, failure to thrive, splenomegaly

Mild/moderate anemia

Mild/moderate anemia

Mild anemia

Moderate anemia, menorrhagia

Mild anemia