Background: The aim of this perspective study was to assess the frequency of hemoglobinopathy mutational genes among voluntary hemoglobinopathy carrier couples-to-be referred to thalassemia center, Shafa hospital, affiliated to Ahvaz Jondidishapur University of Medical Sciences (AJUOMS), during their first trimester of pregnancy for genetic screening and counseling for prenatal diagnosis (PND).

Materials and Methods: In a four-year period (2000-2004), 93 voluntary couples from Khuzestan province (mostly Ahvaz area) who were proved to be carrier for alpha thalassemia, beta thalassemia, or other hemoglobinapathies underwent PND and detection of causative mutational genes by chorionic villus sampling {CVS) plus direct or indirect DNA analysis at first trimester of pregnancy. First trimester authorized termination of pregnancy was performed, if a fetus was confirmed to have serious disorders.

Results: From 93 voluntary couples who underwent PND, 11 (10.3%) couples were confirmed to have fetuses with serious disorders, and interruption of pregnancy was performed for them. Prenatal screening and PND in this study showed that β-thalassemia was the most frequent accounting for 55% of all disorders. Results of other hemoglobinopathy mutational genes analysis showed the frequency of S, D, C, and α–globin mutational gene to be 16.2%, 3.2 %, 1%, and 9.7 %, respectively. Eighteen percent of cases were undetermined. Our data showed that the frequency of sickle cell mutational gene is second to β-thalassemia, α-thalassemia is the third one.

Conclusion: It is too clear that prenatal screening and PND is a useful keys methods for identifying the affected fetuses , expensive methods and the Ahvaz is on long distance far from the capital town (Tehran), only the rich voluntary family with high income accepted .this pathway solution. Recently Since 2007 these facility were set up in to Ahvaz Thalassemia center by co- ordination of Ministry of public health services through Iran national thalassemia screening program. Part-affiliated to( AJUOMS). Furthermore, the frequency of 18% others of unknown genetic traits still dictates further detailed studies that can elucidate the other types of genetic abnormities that exist in region.