recessive

autosomal

genotype

phenotype

1. complete blood count(CBC)

(hypochromic

microcytic)
(anisocytosis poikilocytosis) microspherocyte,
polychromasia, target cell target cell
hemoglobin E
heterozygote homozygote

2. (red cell indices) mean

corpusular volume (MCV)
1
1 MCV
normal
1 trait
2 trait
trait
Hb E trait
Hb EE
Hb H

MCV (fl)
85-95
70 + 8.7
85+5.5
68+6.9
84+5.1
73+5.7
67+6.7

disease
/E thal
thal

69+5.6
55-65

3. reticulocyte count reticulocyte

count

4. one tube osmotic fragility test

0.36

(decrease osmotic
fragility) 90
thalassemia 93
thalassemia

5. DCIP

DCIP

100
6. inclusion bodies
hemoglobin H inclusion
bodies 50
7. hemoglobin electropheresis
A2
Hb E Hb constant spring (Hb CS)
genotype

hemoglobin typing

hemoglobin typing

hemoglobin typing

CBC,

blood smear, MCV reticulocyte count

genotype phenotype

1. A2A Hb A Hb A2
2.5
2. Hb A2 3.5
thalassemia
3. Hb electropheresis Hb E Hb
A2 Hb E
Hb A2 15
Hb E
4. Hb E Hb E 25-35
Hb E 25 thalassemia

5. Hb E homozygous Hb E 85
6. Hb Barts Hb H
thalassemia Hb H disease
7. Hb constant spring (Hb CS) Hb CS
1-2 homozygous Hb CS Hb CS 510
8. 1 Hb typing
MCV
9. 2
() Hb H
disease 1 2
(MCV
) 2

2 hemoglobin electropheresis

genotype

genotype
gene
gene
/
/
--/ (1)
/
- /
/
(2)
--/- (12)
/
--/-- (11)

/CS

CS /CS

--/CS

0/

+/

0/0

+/+

E/

E /E

Diagnosis

Hb typing

Normal
1 trait
2 trait

A2A
A2A
A2A

Hb H
disease
Barts
hydrop
Hb CS trait

A2ABarts H

Portland,
Barts
CS A2A(Hb
CS=1-2 %)
Homozygou
CS A2A(Hb
s Hb CS
CS=5-10%)
Hb H with CS A2AH Barts
Hb CS
A2A(Hb A2 >
0
3.5%)
thalassmia
trait
A2A(Hb A2 >
+
3.5%)
thalassemia
trait
Homozygou
A2F
0
s -thal
Homozygou
A2AF
+
s -thal
Hb E trait
EA (Hb E = 2535%)
Hb E
EE (Hb
homozygous
E>85%)

 /
/
--/-

0 /E
+ /E
E/

--/-

0 /E

--/-

E /E

--/CS

E/

0 thal /Hb E
+ thal /Hb E
EABarts
disease
EFBarts
disease
EFBarts
disease
EABarts
disease with
Hb CS

EF
EFA
EABarts
EFBarts
EFBarts
CSEABarts