Akademik Veri Yönetim Sistemi
Balkan medical journal, 2023 (SCI-Expanded)
Background: Hemoglobinopathies are the most common inherited diseases in humans resulting from impaired globin chain synthesis of hemoglobin. The progression of thalassemia rates is prevented with prenatal screening methods.
Aims: This study aimed to retrospectively evaluate the hematological parameters of α- and β-thalassemia and normal fetuses aged 17-25 weeks of gestation. Pregnant women who underwent cordocentesis in the second trimester because of the risk of having a baby with thalassemia were included in the study.
Study design: A retrospective case-control study.
Methods: Hematological indices and molecular DNA methods were analyzed from the cord blood samples of 129 women who were 17-25 weeks into pregnancy. In total, 112 of the fetuses carry α- and β-thalassemia heterozygous or homozygous, and 17 fetuses had a normal genotype for thalassemias. The fetal hematological parameters analyzed included red blood cells (RBCs), hemoglobin (Hb), hematocrit (HCT), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), and red cell distribution width (RDW). The HPLC method was used for Hb fraction analysis. Amplification refractory mutation system, restriction enzyme analysis, multiplex polymerase chain reaction, and sequencing methods were used for the molecular analysis. Maternal contamination was eliminated by the short tandem repeat method.
Results: In this study, 28.6% (37), 45.0%, 13.1%, and 13.1% of the fetuses had α-thalassemia, β-thalassemia, mixed thalassemia (α-/β- thalassemia with sickle cell anemia), and normal findings, respectively. Significant differences in adult hemoglobin (HbA), fetal hemoglobin (HbF), Hb Barts, MCV, MCH, and RDW were detected in three groups compared with the normal group (p < 0.001, except for RBC, Hb, HCT, and MCHC). Differences in HbF, Hb Barts, MCV, MCH, and RDW were observed in the α-thalassemia groups compared with the normal group (p < 0.001). Among the five β-thalassemia subgroups, only HbA and RDW were different from the normal group (p < 0.001).
Conclusion: This study could be a good reference for future studies and prenatal diagnostic applications in emphasizing the importance of changes in the blood parameters of fetuses before molecular genotyping. These hematological data give valuable information to clinicians about the fetus to enlighten families in making appropriate decisions during prenatal diagnosis. The investigated hematological parameters are useful for the differentiation of thalassemias midpregnancy.