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Hemoglobin Lepore Hollandia in India
A Nadkarni1, K Italia, P Sawant
1National Institute of Immunohaematology (ICMR), Parel, Mumbai, India. anitahnadkarni@yahoo.com
Introduction:
Hb Lepore is a structurally abnormal hemoglobin in which the abnormal globin chain is a hybrid or fused δβ globin chain. In the heterozygous condition, Hb Lepore produces the phenotype of heterozygous β thalassemia with slightly raised HbF levels.
Method:
Using a combination of HPLC and DNA analysis, we have identified eight individuals with Hb Lepore Hollandia from three families including seven heterozygotes and one compound heterozygote with β thalassemia who presented with a severe clinical phenotype.
Results:
All the heterozygotes showed elevated levels of HbF with a mean of 3.2%. Hb Lepore Hollandia genes were associated with a single β globin cluster haplotype [- - - - - - +] indicating a common origin.
Conclusion:
Hemoglobin Lepore Hollandia is a relatively uncommon variant in the Indian population and can be identified using a combination of chromatographic, electrophoretic, and molecular analysis.
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