Comparison of cord blood hematological parameters among normal, α-thalassemia, and β-thalassemia fetuses between 17 and 38 weeks of gestation

The aim of this study was to retrospectively compare hematological parameters among normal, alpha-, and beta -thalassemia fetuses between 17 and 38 weeks of gestation. Pregnant women at risk of having fetuses with thalassemia major and underwent cordocentesis for prenatal diagnosis were recruited. Fetal cord blood samples were collected from 249 fetuses for hematological and DNA analysis. Fetuses were divided into subgroups according to thalassemia DNA genotypes. The average and gestational age of subjects were 27.95 +/- 5.78 years and 27.78 +/- 3.57 weeks, respectively. The distribution of alpha -thalassemia, beta -thalassemia, and normal cases was 67.87%, 19.68%, and 12.45%, respectively. Significant differences in almost all the hematological parameters (HbF, HbA, Hb, HCT, MCV, MCH, MCHC, RDW, and NBRCs) were observed in three groups (P<0.001, except for RBC, P=0.446). These differences were also observed in four -thalassemia subgroups (P<0.001) and were associated with the number of defected genes. Similarly, in five -thalassemia genotypes, HbF, HbA, RBC, MCV, MCH and NBRCs were presented differently (P<0.05). Additionally, the trends in RBC, Hb, and HCT changes in three -thalassemia subgroups (silent carrier, trait, and major) and beta (+)/beta (+) fetuses' MCV, MCH, and RDW levels with gestation age were opposite to those of normal fetuses. We compared the distribution of hematological parameters in fetuses affected by most genotypes of thalassemia, as well as their trends in relation to gestational age for the first time, which is a good reference for future studies and prenatal diagnostic practices. The investigated hematological parameters are also valuable in diagnosing and differentiating thalassemia.

Automated summary

This study retrospectively compared hematological parameters among normal, alpha-, and beta-thalassemia fetuses, finding significant differences in almost all parameters among the groups and subgroups. These findings provide valuable reference for future studies and prenatal diagnostic practices in diagnosing and differentiating thalassemia.