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