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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).

These data will significantly facilitate the population screening, genetic counseling and prenatal diagnosis in Syrian population.

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Objectives: Endocrine disorders continue to affect the health of thalassemia patients, foremost of which is hypogonadism being the most frequent endocrine complication that involves 70-80% of beta-thalassemia major (β-TM) patients. Actually, the role of iron overload in endocrine complications is well known. Our study goals were to investigate gonadal function, assess pubertal status among Syrian male patients with β-TM and correlate hormonal panel with serum ferritin as the marker of iron overload. Methods: 56 β-TM regularly transfused male patients were enrolled in this study, they were 21.91±5.01 years old. FSH, LH, Total Testosterone, and Serum Ferritin were measured for all patients, 52 of them undergone pubertal status evaluation. Results: Results showed that 60.7% of patients suffered from hypogonadism, which was hypogonadotropic hypogonadism in 97.06% of them. Delayed puberty was seen in 7.7% of the patients, while arrested puberty was found in 82.69% of them. All patients had iron overload and 92.86% of them suffered from severe iron elevation. Both gonadal and pubertal status were independent of the serum ferritin levels (P=0.73), (P=0.81) respectively. There was significant positive correlation between FSH: LH (r=0.584, P=0.0001), FSH: Testosterone (r=0.562, P=0.0001), LH: Testosterone (r=0.746, P=0.0001), MCHC: Testosterone (r=0.292, P=0.038), and BMI: Hb (r=0.351, P=0.009). Conclusions: Our findings indicated that hypogonadism, arrested puberty and severe iron overload were highly prevalent among male patients with β-TM. Patients with better gonadal reserve have higher BMI than those with gonadal dysfunction. We suggest that hypogonadism in β-TM patients is not directly related to serum ferritin levels; other potential factors (such as chronic anemia, hypoxia, and genetic predisposition) may contribute. Also we suggest that adequate blood transfusion and appropriate iron chelation, along with regular evaluation for gonadal status and timely intervention can improve the management of aforementioned complications, thus ameliorating patients’ quality of life.