β-Thalassemia mutations found during 1 year of prenatal diagnoses in Fars Province, Iran.

We report the spectrum of β-thalassemia (β-thal) mutations observed in a cohort of at-risk couples, who presented for prenatal diagnosis at the Thalassemia, Hemophilia and Prenatal Diagnosis Genetic Research Center, Shiraz Medical University, Fars, Iran, from March 2001 to April 2002. Using polymerase chain reaction-amplification refractory mutation system (PCR-ARMS), restriction fragment length polymorphism (RFLP) and direct sequencing technologies, in different combinations, we were able to provide preventive medical abortions to 55 couples at-risk of having an affected fetus. Fetal samples of chorionic villus (63.6%) or amniocentesis (37.6%) were collected according to the gestational age. The average presentation age was 11.6 ± 2.6 weeks. The expected prevalent mutations were IVS-II-1 (G>A, 23.6%) and IVS-I-110 (G>A, 10.0%) followed by IVS-I-5 (G>C, 6.4%) and IVS-I, 25 bp deletion (8.2%).