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Background and Objectives Thalassemia is the most common monogenic disease worldwide inherited in autosomal recessive manner. Beta-thalassemia is caused by mutations in beta-globin gene. It is characterized by reduction in red blood cell indices including low MCV, low MCH, high RBC count, low HbA1 and high HbA2. Considering these symptoms, finding a relation between erythrocyte indices and kind of mutations can be used as a rapid method in mutation diagnosis and initial screening of carriers. Materials and Methods In this descriptive-analytical study after DNA extraction from 200 beta- thalassemia minors in Khuzestan province by salting out method, we amplified and sequenced beta-globin gene by Sanger sequencing. Finally, we analyzed statistically the beta-globin gene mutations and erythrocyte indices association by SPSS. Results Our results showed that IVSII-1(G > A) is the most common mutation with 22.5% frequency in this population of beta-thalassemia carriers. We found that MCV index variations have a meaningful association with beta-globin gene mutations and the highest mean of MCV (65.4 ± 3.7) was observed in IVSI-110(G > A) mutation. Conclusions The results comply with many other studies performed in this field and can be used for rapid detection of mutation in carrier parents and prenatal diagnosis. [ABSTRACT FROM AUTHOR]

Background: Small-for-gestational-age (SGA) is one of the most important conditions, which is associated with the risk of perinatal mortality and morbidity. The levels of pregnancy-associated plasma protein A (PAPP-A) and β-human-derived chorionic gonadotrophic (β-hCG) in the first trimester can predict this adverse outcome, considering the controversial nature of studies in this area, this cohort study was conducted to investigate the role of PAPP-A and freeβ-hCG levels for predicting SGA. Materials and Methods: In this cohort study, from 16 randomly selected health centers in Isfahan, Iran, 4605 volunteer pregnant women who had performed first-trimester fetal anomalies screening tests were chosen based on the census, from July 2016 to June 2018. The multiples of the median (MoM) PAPP-A <0.4 and MoM β-hCG >3 were considered as abnormal; the samples were followed up after childbirth. The biomarkers' serum levels, relative risk, and odds ratio (OR) of SGA were compared in both SGA and appropriate for gestational age (AGA) groups. Results: In the SGA group, the mean of MOM PAPP-A was significantly lower (0.96 vs. 1.1 with P = 0.001) and MoM βhCG was significantly higher (1.24 vs. 1.15 with P = 0.01) than the AGA group. Odds for SGA in subjects with MoM PAPP-A <0.4 were 3.213; P = 0.001 and for subjects with MoM βhCG >3 reported as 0.683; P = 0.111. Conclusion: The results of the study showed that the low levels of PAPP-A would cause 3.213 times increase in the chance of developing SGA and no association between high level of βhCG >3 with SGA. Therefore, low level of the PAPP-A is a warning indicator for SGA. [ABSTRACT FROM AUTHOR]