Prenatal Molecular Diagnosis of β-Thalassemia and Sickle Cell Anemia in the Syrian Population

Abstract

Our objective was to evaluate the prenatal diagnosis (PND) of β-thalassemia (β-thal) and sickle cell anemia in Syria. Mutations detected from blood of at-risk couples and 55 amniotic fluid samples collected at the second trimester of pregnancy (14–22 weeks’ gestation) were characterized. Molecular screening and direct DNA sequencing of the HBB gene was carried out. DNA analyses showed 14 affected fetuses (25.45%), 32 (58.18%) carriers and eight (14.54%) normal fetuses. It appears that 20.0% of individuals carried the sickle cell anemia mutation and 80.0% carried the β-thal mutation. Thirteen different known mutations were detected in the fetuses. The most common mutations were: IVS-II-1 (G > A), codon 39 (C > T)], IVS-I-110 (G > A), IVS-I-1 (G > A) and IVS-I-5 (G > C). The Hb S [β6(A3)Glu → Val; HBB: c.20A > T] mutation was the only abnormal hemoglobin (Hb) that was found. The results point to a successful future for PND of β-thal and sickle cell anemia in Syria, using a rapid and accurate molecular method. We hope that this method will be used as a common application approach to decrease the incidence of β-thal major (β-TM).

• β-Thalassemia (β-thal)
• mutation
• prenatal diagnosis (PND)
• sickle cell anemia
• Syria

Acknowledgments

We thank Dr. I. Othman, Director General of The Atomic Energy Commission of Syria (AECS), Damascus, Syria, and Dr. N. Mirali, Head of the Molecular Biology and Biotechnology Department, Human Genetics Division, Atomic Energy Commission, Damascus, Syria, and Dr. S. Alaji from the Thalassemia Center, Damascus, Syria for their support.