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.

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.

• Authors: Khushnooma Italia, Jayesh Sheth, Pratibha Sawant, Anita Nadkarni, Kanjaksha Ghosh, Roshan Colah
• Journal: Prenatal diagnosis (Prenat Diagn) Vol. 32 Issue 7 Pg. 703-7 (Jul 2012) ISSN: 1097-0223 [Electronic] England
• PMID: 22552997 (Publication Type: Letter, Research Support, Non-U.S. Gov't)
• Copyright: © 2012 John Wiley & Sons, Ltd.

Chemical References

• Hemoglobins, Abnormal
• hemoglobin Lepore-Hollandia
• Hemoglobin E
• hemoglobin Lepore

Topics

• Adult
• Chromatography, High Pressure Liquid
• Female
• Genetic Carrier Screening (methods)
• Genotype
• Hemoglobin E (analysis, genetics)
• Hemoglobins, Abnormal (analysis, genetics)
• Humans
• Male
• Pregnancy
• Prenatal Diagnosis (methods)
• beta-Thalassemia (diagnosis, genetics)