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Hemoglobin Lepore Hollandia in India
Author(s) -
NADKARNI A.,
ITALIA K.,
SAWANT P.,
GHOSH K.,
COLAH R.
Publication year - 2012
Publication title -
international journal of laboratory hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.705
H-Index - 55
eISSN - 1751-553X
pISSN - 1751-5521
DOI - 10.1111/j.1751-553x.2011.01372.x
Subject(s) - heterozygote advantage , thalassemia , hemoglobin , globin , haplotype , genetics , compound heterozygosity , phenotype , hemoglobinopathy , biology , hemoglobin c , microbiology and biotechnology , gene , genotype , hemolytic anemia , immunology , biochemistry
Summary 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.