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Prenatal diagnosis of HbE‐Lepore and Hb Lepore‐β‐thalassemia: the importance of accurate genotyping of the couple at risk
Author(s) -
Italia Khushnooma,
Sheth Jayesh,
Sawant Pratibha,
Nadkarni Anita,
Ghosh Kanjaksha,
Colah Roshan
Publication year - 2012
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.3884
Subject(s) - genotyping , prenatal diagnosis , compound heterozygosity , genotype , medicine , fetus , grandparent , genetics , thalassemia , pediatrics , pregnancy , allele , biology , psychology , gene , developmental psychology
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. Conclusion 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. © 2012 John Wiley & Sons, Ltd.