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Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.

Pallavi MehtaPratibha SawantManju GorivaleAnita H NadkarniRoshan B ColahMalay B Mukherjee
Published in: International journal of laboratory hematology (2020)
Many fetuses had one or two gene modifiers. However, the impact of these on ameliorating the severity of the disease could not be evaluated as all the fetuses with β thalassemia major or sickle cell disease were terminated. Parents having heterozygous fetuses with α gene triplication should be followed up periodically after birth for better management of these babies.
Keyphrases
  • gestational age
  • sickle cell disease
  • preterm birth
  • copy number
  • genome wide
  • genome wide identification
  • pregnant women
  • risk factors
  • dna methylation
  • transcription factor