Prenatal diagnosis of HbE-Lepore and Hb Lepore-β-thalassemia: the importance of accurate genotyping of the couple at risk

Prenatal Diagnosis
Khushnooma ItaliaR B Colah

Abstract

To accurately define unusual genotypes in compound heterozygotes for hemoglobinopathies before undergoing prenatal diagnosis. 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. 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. 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.

References

Dec 1, 1994·American Journal of Hematology·J S WayeN F Olivieri
Sep 15, 2010·Indian Journal of Human Genetics·Nishi MadanLate H M Bhatia
Sep 8, 2011·International Journal of Laboratory Hematology·A NadkarniR Colah

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Citations

Aug 22, 2018·Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion·Roshan ColahKanjaksha Ghosh
Nov 30, 2018·International Journal of Laboratory Hematology·Anita H NadkarniRoshan B Colah
Jan 15, 2013·International Journal of Laboratory Hematology·S NairR Colah
Mar 11, 2021·Indian Journal of Pediatrics·Sujata DixitManoranjan Ranjit

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