Screening for thalassemia: a model of success.
Programs of prospective carrier screening and genetic counseling for beta-thalassemia among couples planning marriage, preconception, or during early pregnancy are ongoing in several at-risk populations in the Mediterranean area, including Greeks, Greek Cypriots and Continental Italians. Carrier detection is carried out by haematological analysis followed by mutation detection by DNA analysis. Once carrier couples are identified, prenatal diagnosis is accomplished by mutation analysis on PCR amplified DNA from chorionic villi. These programs have been very effective, due to education programs and subsequent acceptance of screening. Future prospects include automation of the process of mutation detection by microchips analysis, introduction of preconception and preimplantation diagnosis and hopefully fetal diagnosis by analysis of fetal cells in maternal circulation.
Department of Pediatrics, Università degli Studi di Cagliari, Sardinia, Italy. acao@mcweb.unica.it
Antonio
A
Cao
Maria Cristina
MC
Rosatelli
Giovanni
G
Monni
Renzo
R
Galanello
D004252:DNA Mutational Analysis; D019353:Endemic Diseases; D005260:Female; D006580:Genetic Carrier Screening; D005817:Genetic Counseling / Q000379:methods; D005820:Genetic Testing / Q000379:methods*; D006266:Health Education / Q000458:organization & administration; D006579:Heterozygote; D006801:Humans; D015994:Incidence; D019083:Mediterranean Region / Q000453:epidemiology; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D018570:Risk Assessment; D012680:Sensitivity and Specificity; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*