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Table 1 The hematological and molecular data of the family

From: Hb Knossos (HBB: c.82G > T), β-globin CD 5 (−CT) (HBB: c.17_18delCT) and δ-globin CD 59 (−a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia

Parameters

Proband’s Father

Proband’s Mother

Proband

Sex-age (years)

M-40

F-38

M-12

Hb (g/dL)

11.2

14

9

RBC (1012/L)

5.4

5.5

4.2

MCV (fL)

60.42

83

64

MCHC (g/dl)

31.5

32.2

33.9

MCH (pg)

19.35

27.3

21.8

RDW-CV (%)

14.9

15.6

18

Hb A1 (%)

93.2

98.1

36.2

Hb A2 (%)

3.8

1.9

1.6

Hb F (%)

3

0

62.2

α Genotype

αα/αα

αα/αα

αα/αα

β Genotype

β Acodon 5[−CT]

β AHb Knossos

β codon 5[−CT]Hb Knossos

δ Genotype

δ AA

δ ACodon 59 (−A)

δ A / Codon 59 (−A)

  1. RBC red blood cell count, Hb hemoglobin, MCV mean corpuscular volume, MCH mean corpuscular Hb, RDW-CV RBC distribution width- coefficient of variation.