High HbF in pregnancy is associated with the Xmn I polymorphism at the -158bp of the G gamma-globin gene

Eur J Obstet Gynecol Reprod Biol. 1995 Jun;60(2):153-6. doi: 10.1016/0028-2243(95)02105-2.

Abstract

HbF was measured in the peripheral blood of 354 women during the first trimester of pregnancy. In those (n = 6) with HbF > 3% and in 30 randomly selected pregnant women with normal HbF values, analysis of the G gamma content and the Xmn I polymorphism was performed. The frequency of the Xmn I polymorphism was significantly higher (P < 0.001) in the group with high HbF (0.67) compared to the control group (0.10). The G gamma chain content evaluation revealed a newborn ratio in all 6 high HbF subjects. Six months after delivery, HbF was measured in all women with high HbF during pregnancy, revealing normal values. These results suggest that the presence of the Xmn I polymorphism is a strong inducer for the elevation of HbF during pregnancy.

MeSH terms

  • Deoxyribonucleases, Type II Site-Specific
  • Female
  • Fetal Hemoglobin / analysis*
  • Globins / genetics*
  • Heterozygote
  • Humans
  • Polymorphism, Restriction Fragment Length*
  • Pregnancy / blood*
  • Pregnancy Trimester, First
  • alpha-Fetoproteins / analysis
  • beta-Thalassemia / genetics

Substances

  • alpha-Fetoproteins
  • Globins
  • Fetal Hemoglobin
  • endodeoxyribonuclease XmnI
  • Deoxyribonucleases, Type II Site-Specific