ตารางที่ 4
แสดง Genotype และ Phenotype ของภาวะโลหิตจางที่มีฮีโมโกลบินผิดปกติที่พบบ่อย
|
Genotype
|
Phenotype
|
|
a-gene
|
b-gene
|
Clinical
|
Hb type
|
|
aa/aa
|
b/b
|
Normal |
A2A (A2 = 2.5-3.5 %) |
|
-a/aa
|
b/b
|
a-thal 2 trait |
A2A |
|
--/aa
|
b/b
|
a-thal 1 trait |
A2A |
|
aa/aacs
|
b/b
|
Hb CS trait |
CS (A2) A |
|
aacs/aacs
|
b/b
|
Homozygous Hb Cs |
CS (A2) A |
|
--/-a
|
b/b
|
Hb H disease |
A2AH Bart's |
|
--/aacs
|
b/b
|
Hb H with Hb CS |
CS (A2) AH Bart's |
|
--/--
|
b/b
|
Hb Bart's hydrops |
Portland, Bart's |
|
aa/aa
|
b0/b
|
b0-thal trait |
A2A (A2 >3.5 %) |
|
aa/aa
|
b+/b
|
b+-thal trait |
A2A (A2 >3.5 %) |
|
aa/aa
|
bE/b
|
Hb E trait |
EA (E = 25-35 %) |
|
aa/aa
|
b0/b0
|
Homozygous b0-thal |
A2F |
|
aa/aa
|
b+/b+
|
Homozygous b+-thal |
A2FA |
|
aa/aa
|
b0/bE
|
b0-thal/Hb E |
EF |
|
aa/aa
|
b+/bE
|
b+-thal/Hb E |
EFA |
|
aa/aa
|
bE/bE
|
Homozygous Hb E |
E (E = 80-100 %) |
|
--/-a
|
bE/b
|
AE Bart's disease |
AE Bart's |
|
--/aacs
|
bE/b
|
AE Bart's with Hb CS |
AE CS E A Bart's |
| --/-a |
bE/bE
|
EF Bart's disease |
EF Bart's |
|
--/-a
|
b0/bE
|
EF Bart's disease |
EF Bart's |