Prevention of severe thalassemia in northeast Thailand: 16 years of experience at a single university center.
OBJECTIVE
To demonstrate the performance of thalassemia prevention in northeast Thailand during 1993-2008.


METHODS
Retrospective data from 1422 at-risk couples who attended from January 1993 to December 2008 were studied. All couples were suspected at-risk couples based on initial screening using standard protocols. Three thalassemia carrier types including alpha(0)-thalassemia, beta-thalassemia and hemoglobin E were identified using standard methods. Data on prenatal diagnosis were collected.


RESULTS
Of the 1422 positive-screened couples, 1254 (88.2%) were diagnosed as true-positive couples. After DNA analysis, 968 of 1254 (77.2%) resulted at risk for three types of severe conditions being hemoglobin E-beta-thalassemia disease (640/968, 66.1%), homozygous alpha(0)-thalassemia (304/968, 31.4%) and homozygous beta-thalassemia (11/968, 1.1%). The remaining 1.3% of the couples were at risk for more than one disease. After genetic counseling, prenatal diagnosis was performed on 756 couples (78.1%). The proportions of affected fetuses, thalassemia carriers and unaffected fetuses were 26.9, 50.0 and 23.0%, respectively.


CONCLUSIONS
Implementation of a prevention and control program accompanying with a referral system for prenatal diagnosis is technically feasible in northeast Thailand and a large number of severe thalassemia diseases have been prevented during the past 16 years of operation.
Yamsri
Supawadee
S
Biomedical Science Program, Graduate School, Khon Kaen University, Khon Kaen 40002, Thailand.
Sanchaisuriya
Kanokwan
K
Fucharoen
Goonnapa
G
Sae-Ung
Nattaya
N
Ratanasiri
Thawalwong
T
Fucharoen
Supan
S
D000046:Academic Medical Centers; D000465:Algorithms; D004252:DNA Mutational Analysis; D005240:Feasibility Studies; D005260:Female; D005787:Gene Frequency; D005817:Genetic Counseling / Q000706:statistics & numerical data; D005820:Genetic Testing / Q000706:statistics & numerical data; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods / Q000706:statistics & numerical data; D011364:Professional Practice; D015397:Program Evaluation; D012017:Referral and Consultation / Q000706:statistics & numerical data; D012189:Retrospective Studies; D012720:Severity of Illness Index; D013785:Thailand; D013789:Thalassemia / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control*