title: Prenatal diagnosis of HbE-Lepore and Hb Lepore-β-thalassemia: the importance of accurate genotyping of the couple at risk.
abstract: OBJECTIVE
  To accurately define unusual genotypes in compound heterozygotes for hemoglobinopathies before undergoing prenatal diagnosis.
  
  
  METHODS
  The HPLC results showed one of the parents in case A and B and a child in case C to be HbE-beta-thalassemia. However, this finding did not correlate with molecular findings. Further screening of their grandparents and analysis of DNA for HbLepore were performed.
  
  
  RESULTS
  The presence of a typical hump in the peak in the HbA(2) window (10-15%) in one of the grandparents led to the suspicion of a large deletion. Further molecular screening for HbLepore concluded that case A was compound heterozygous for HbLepore-Hollandia-(δ22/β50) and HbE, case B for HbLepore-Boston-Washington-(δ287/β116) and IVS-I-5(G >C) and case C for HbLepore-Hollandia-(δ22/β50) and HbE. The fetuses were found to be HbE trait in case A and HbLepore trait in case B and C.
  
  
  CONCLUSIONS
  Accurate genotyping of the couple at risk referred for prenatal diagnosis is important to identify uncommon genotypic combinations in compound heterozygous cases. Extended family studies are often useful to avoid misdiagnosis of the fetus.
authors.forename: Khushnooma
authors.initials: K
authors.lastname: Italia
authors.forename: Jayesh
authors.initials: J
authors.lastname: Sheth
authors.forename: Pratibha
authors.initials: P
authors.lastname: Sawant
authors.forename: Anita
authors.initials: A
authors.lastname: Nadkarni
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.forename: Roshan
authors.initials: R
authors.lastname: Colah
mesh_terms: D000328:Adult; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006580:Genetic Carrier Screening / Q000379:methods*; D005838:Genotype; D006446:Hemoglobin E / Q000032:analysis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000032:analysis / Q000235:genetics*; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; C477064:hemoglobin Lepore-Hollandia; D006446:Hemoglobin E; C037659:hemoglobin Lepore