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Surapot - HB E and Alpha Thalassemia PCR
Surapot - HB E and Alpha Thalassemia PCR
ORIGINAL ARTICLE
1*, 2, 2, 2, 2, 2
(Hb E) (-thalassemia)
Hb E -thalassemia Hb E -thalassemia
204 Hb E
-thalassemia 1 (SEA deletion), -thalassemia 2 (3.7 4.2 kb deletion) Constant Spring (CS) PCR
-thalassemia 1, -thalassemia 2 CS 2.0, 15.7 3.9
11 heterozygous Hb E 71.1, heterozygous Hb E -thalassemia 1
1.5, heterozygous E -thalassemia 2 (3.7 kb deletion) 10.3, heterozygous Hb E
-thalassemia 2 (4.2 kb deletion) 1.5, heterozygous Hb E CS 2.9,
heterozygous Hb E homozygous -thalassemia 2 (3.7 kb deletion) 0.5, heterozygous Hb E
-thalassemia 2 (3.7 kb deletion) CS 1.0, homozygous Hb E 6.8, homozygous Hb
E -thalassemia 1 0.5, homozygous Hb E -thalassemia 2 (3.7 kb deletion)
2.4 -thalassemia / Hb E 1.5
11 Hb E -thalassemia 1 Hb E
-thalassemia 1 Hb E 25.0
Hb Barts hydrops fetalis
: ,
*
2
31
ORIGINAL ARTICLE
Abstract
Both hemoglobin E (Hb E) and -thalassemia are prevalence in Thailand. Hb E-a-thalassemia syndromes
are therefore common. Individuals with these syndromes are at risk for both - and -thalassemia diseases.
In this study, the prevalence of Hb E--thalassemia was examined on 204 Southern Thai subjects who were
encountered at the Maharaj Nakhon Si Thammarat hospital. The -thalassemia determinants examined using
PCR methods included -thalassemia 1 (SEA type), -thalassemia 2 (3.7 kb and 4.2 kb deletions) and Hb
Constant Spring gene (CS). Hb E gene (E) was confirmed in all cases using allele specific PCR. The
prevalence of -thalassemia 1, -thalassemia 2 and CS in this Thai population were found to be 2.0%,
15.7 % and 3.9%, respectively. As many as 11 Hb E genotypes were observed; 71.1% heterozygous Hb E,
1.5% heterozygous Hb E with heterozygous -thalassemia 1, 10.3% hetetozygous Hb E with heterozygous
-thalassemia 2 (3.7 kb), 1.5% heterozygous Hb E with heterozygous -thalassemia 2 (4.2 kb), 2.9%
heterozygous Hb E with heterozygous CS, 0.5% heterozygous Hb E with homozygous -thalassemia 2, 1.0%
heterozygous Hb E with compound heterozygous -thalassemia 2 and CS, 6.8% homozygous Hb E, 0.5%
homozygous Hb E with heterozygous -thalassemia 1, 2.4% homozygous Hb E with heterozygous -thalassemia
2 and 1.5% -thalassemia / Hb E disease. It was found that using hematological data alone it is very difficult
to differentiate all these genotypes. It is therefore recommended for those with Hb E, whose couples are carriers
of -thalassemia 1, to be examined for -thalassemia 1 especially when the level of Hb E is less than 25% in
order to prevent the Hb Barts hydrops fetalis and provide appropriate genetic counseling.
KeyWords: Hemoglobin E,
- thalassemia
32
21 1 - 2552
10-13
5 10
30-60
26
(2226Glu-Lys)
homozygote Hb E Hb E
92-98 (Hb F)
(-globin)
(-thalassemia)
3-9(1,2)
-thalassemia 1 6.5 (3)
-thalassemia 1 2 21.6(4)
Hb E Hb E
-thalassemia 1 -thalassemia 2
(5)
Hb E
-thalassemia / Hb E homozygous
-thalassemia 1
-thalassemia
Hb E -thalassemia
1 5.2(6)
Hb E -thalassemia
Hb E
40.5
(7)
-thalassemia (8)
1.
EDTA
(.)
2.
Hb E 204
EA 181 , EE 20
, EFA 2 EF 1
33
-thalassemia
-thalassemia 1, -thalassemia 2 CS
2.0, 15.7 3.9
11 heterzygous Hb E
-thalassemia (A/E, /) 145
( 71.1), heterozygous Hb E
-thalassemia 1 SEA deletion (A/E, //
--SEA) 3 ( 1.5), heterozygous Hb E
-thalassemia 2 3.7 kb deletion (A/
E,/-3.7) 21 ( 10.3), heterozygous
Hb E -thalassemia 2 4.2 kb deletion
( A / E , /- 4.2 ) 3 ( 1.5),
heterozygous Hb E
(A/E, /CS ) 6 ( 2.9),
1 Hb E 204
34
Genotype
Hb type
No.
1. Heterozygous Hb E ( Hb E trait )
2. Heterozygous Hb E with - thal 1 ( SEA type )
3. Heterozygous Hb E with - thal 2 (3.7 kb)
4. Heterozygous Hb E with - thal 2 ( 4.2 kb )
5. Heterozygous Hb E with CS
6. Heterozygous Hb E with homozygous - thal 2 ( 3.7 kb )
7. Heterozygous Hb E with compound - thal 2 ( 3.7 kb) / CS
8. Homozygous Hb E
9. Homozygous Hb E with - thal 1 (SEA type)
10. Homozygous Hb E with - thal 2 ( 3.7 kb )
11. - thalassemia / Hb E
Total
EA
EA
EA
EA
EA
EA
EA
EE
EE
EE
EFA
145
3
21
3
6
1
2
14
1
5
2
204
71.1
1.5
10.3
1.5
2.9
0.5
1.0
6.8
0.5
2.4
1.0
100
21 1 - 2552
35
2 Hb E ( - )
F = female, M = male
36
21 1 - 2552
2 Hb E ( - ) ()
F = female, M = male
Hb E
204
Hb E ( 88.7)
-thalassemia
-thalassemia 1,
-thalassemia 2 CS 4.3, 12.0 5.8
(8) Hb E
-thalassemia 1
Hb E
(3-5)
(6)
Hb E -thalassemia 1
-thalassemia / Hb E homozygous -thalassemia
1 Hb Barts hydrops fetalis
(15)
genotype Hb E
-thalassemia 11
genotype
(4,5) heterozygous Hb
E -thalassemia 2 3.7 kb deletion
Hb E -thalassemia
Hb, Hct,
MCV, MCH, MCHC, RDW, Hb typing, Hb E
Hb F genotype
Hb E
-thalassemia heterozygous Hb E
-thalassemia 1
heterozygous Hb E -thalassemia 1
Hb E
Hb gold 20.0-21.2
heterozygous Hb E -thalassemia 1
(3-6)
-globin -globin
E-globin
-globin
Hb E (16)
heterozygous Hb E -thalassemia 2
Hb E 2
(4,5)
Hb E
(17,18)
1 -globin
1 3 Hb E Hb
E 22.0 Hb E
-thalassemia 1
Hb E 25.0 (
microcolumn chromatography)
-thalassemia 1 1 2(19)
homozygous Hb E -thalassemia 1
-thalassemia 2 Hb E
(20)
-thalassemia
-thalassemia 1 Hb
E Hb E
22.0
Hb Gold
37
-thalassemia
1
compound heterozygous
-thalassemia 1 / -thalassemia 2 -thalassemia
1 / Hb Constant Sprin (Hb H disease)
-thalassemia 2 CS Hb E
-thalassemia 1
7.
8.
9.
38
10.
11.
12.
13.
14.
.
2539; 81: 49-54.
.
. 6,
. . 3-5 2543.
Sriroongrueng W, Pornpatkul M, Panich V,
Fucharoen S. -thalassemia incidence in Southern
Thailand by restriction endonuclease analysis of
globin DNA from placental blood at
Songklanakarind hospital. Southeast Asian J Trop
Med Public Health 1997; 28(suppl. 3): 93-6.
. .:
()
2.
2543; 78-81.
Panyasai S, Sringam P, Fucharoen G,
Sanchaisuriya K, Fucharoen S. A simplified
screening for -thalassemia 1 (SEA type) using
a combination of a modified osmotic fragility test
and a direct PCR on whole blood cell lysates.
Acta Haematol 2002; 108: 74 -78.
Sae-ung N, Fucharoen G, Sanchaisuriya K,
Fucharoen S. Alpha(0)-thalassemia and related
disorders in northeast Thailand: a molecular and
hematological characterization. Acta Haematol
2007; 117: 78-82.
, , .
2
. 2543; 28: 1724.
Fucharoen S, Fucharoen G, Ratanasiri T,
Jetsrisuparb A, Fukumaki Y. A simple non
radioactive assay for hemoglobin E gene in prenatal
diagnosis. Clin Chim Acta 1994; 229: 197-203.
Fucharoen G, Fucharoen S. Rapid and
simultaneous non-adioactive method for detecting
-thalassemia 1 (SEA type) and Hb Constant
Spring genes. Eur J Haematol 1994; 53: 186-7.
21 1 - 2552
39