Hemoglobinopathies

Hb Distributions of some common hemoglobinopathies

A1
A2
F
S
C
(a2b2)
(a2d2)
(a2g2)
(a2b2) 6glu-val
(a2b2) 6glu-lys
Normal
96 – 98%
1.4 – 4%
S trait
60 – 75%
25 – 45%
SS
sm
>95%
S – HPFH
20-30%
70 – 80%
S/b thal
0 – 15%
4 – 5%
> 20%
60 – 80%
SC
45 – 55%
45 – 55%
b thal minor
92 – 96%
4 – 8%
a/b thal with ­F
80 – 90%
> 3.5%
5 – 15%
b thal major
0 -20%
5 – 8%
70 – 90%
db thal trait
80 – 90%
1.4 – 4%
5 – 20%
HPFH het
65 – 85%
15 – 35%
C-b thal
0 -15%
2 -10%
60 – 90%

Cellulose Acetate (pH 8.6) Alkaline

C
S
F
A
+
applic
CA, CS
A2
D, G
H, I
N, B
J
E, O
Lepore

CA = carbonic anhydrase, CS = Constant Spring, B = Barts

Citrate Agar (pH 6.2) Acid

+
C
S
A
F
O
applic
A2
D, G, E, Lepore, J

 

EXAMPLES:

Cellulose Acetate (pH 8.6) Alkaline

C/A2
S
F
A
+
Normal*
I
I
I
Hb H disease
I
I
I
II
Hb C trait
I
I
I
Hb S/b thal or transfused S
I
I
I
I
b thal minor
I
I
I
I
Homozygous b+ thal or b0 thal transfused
I
I
I
I
Newborn
I
I
S trait neonate
I
I
I
S trait/A’2 trait
II
I
I
I
Heredit spherocytosis or myelofibrosis
I
I
I
I
S trait neonate, mishandled, with methemoglobins
II
II
II
HbE/iron def or HbE/a thal
I
I
I
HbS trait, HbD or G trait
I
I
I
I
HbG-Philadelphia trait
I
I
I
I
Hb S disease or HbS/HbD
I
I
I
Hb Lepore
I
I
I
I
HbS/HbG-Phil or HbSC transfused with normal blood
I
I
I
I

* also see in Hb Mamlo (erythrocytosis), b thal minor or Hb H with iron deficiency