FOURTEEN-YEAR EXPERIENCE OF PRENATAL DIAGNOSIS OF THALASSEMIA IN IRAN

Authors: Hossein Najmabadi , Alireza Ghamari, Farhad Sahebjam, Roxana Kariminejad, Valeh Hadavi,Talayeh Khatibi, Ashraf Samavat, Elaheh Mehdipour, Bernadette Modell, Mohammand Hassan Kariminejad

Abstract

For 14 years, Iranian scientists have worked to develop a national thalassemia prevention program. Although
historically abortion was considered unacceptable in Iran, intensive consultations led to the clerical approval
of induced abortion in cases with
-thalassemia major in 1997, and a nationwide prevention program with
screening, counseling and prenatal diagnosis (PND) networks has been developed. This paper reports the experience
from one of the two national PND reference laboratories.

As one of the oldest reference laboratories, we performed a total of 906 PND in 360 couples at risk for
thalassemia from 1990 to 2003. Direct and indirect mutation detection methods were applied for all cases. In total,
22 mutations were tested routinely, and an additional 30 rare mutations were identifi ed. 208 fetuses were
found to be normal, 215 fetuses had
-thalassemia major, and 435 fetuses were carriers of the trait. In 40 cases,
we only defi ned one allele. In 8 cases, we were unable to provide any diagnosis, corresponding to 0.9%. Our
data support the functionality of the Iranian
-Thalassemia prevention program. The success of this system in
Iran, a multiethnic and Islamic-based country, would mean that it might be applied as an adaptive system for
neighboring and other Islamic countries.