Relationship between the genotype and hematologic characteristics in the fetuses with thalassemia / 中华儿科杂志

ABSTRACT

<p><b>OBJECTIVES</b>To investigate the relationship between the genotype and the hematologic characteristics in the fetuses with different types of thalassemia.</p><p><b>METHODS</b>Fetal blood samples were taken by cordocentesis, and hemograms from 572 fetuses at the gestational age of 18 to 38 weeks were examined. According to the genotypes of thalassemia, there were 117 fetuses with heterozygous alpha-thalassemia-1, and 60 with homozygous alpha-thalassemia-1. Twenty had beta-thalassemia mild, and 9 had beta-thalassemia major, respectively. The hematological parameters in these groups were compared with reference group in which 366 cases were included.</p><p><b>RESULTS</b>In alpha-thalassemia groups, hemoglobin (Hb), hematocrit (HCT), mean cell volume (MCV), mean cell hemoglobin (MCH), and mean cell hemoglobin concentration (MCHC) significantly decreased (P < 0.001), but in heterozygous alpha-thalassemia-1, red blood cell (RBC) increased. In homozygous alpha-thalassemia-1, RBC decreased significantly (P < 0.001), but white blood cell and nucleated erythrocyte increased (P < 0.001). There were no significant differences between beta-thalassemia and reference group in most hematological parameters except for decrease of MCHC.</p><p><b>CONCLUSIONS</b>In the fetal period, the hemogram of the fetuses with alpha-thalassemia changes significantly, while it does not change in beta-thalassemia. For the couple with heterozygous alpha-thalassemia, hemogram can provide some information for prenatal screening and diagnosis for those fetuses with alpha-thalassemia, especially for homozygous, but genotype detection is necessary for confirming the diagnosis.</p>