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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
International Journal of Laboratory Hematology
|September 8, 2011
Summary
Hemoglobin Lepore Hollandia, a rare δβ globin chain variant, causes a β thalassemia phenotype. Identification requires combined chromatographic, electrophoretic, and molecular analyses.
Area of Science:
- Hematology
- Molecular Genetics
Background:
- Hemoglobin Lepore is an abnormal hemoglobin with a fused δβ globin chain.
- Heterozygous Hb Lepore presents as β thalassemia with elevated HbF.
Purpose of the Study:
- To identify and characterize Hb Lepore Hollandia in affected families.
- To investigate the clinical phenotype and genetic origin of Hb Lepore Hollandia.
Main Methods:
- High-Performance Liquid Chromatography (HPLC) and DNA analysis were employed.
- Eight individuals from three families were studied, including heterozygotes and a compound heterozygote.
Main Results:
- Seven heterozygotes and one compound heterozygote for Hb Lepore Hollandia were identified.
- Heterozygotes exhibited elevated HbF levels (mean 3.2%).
- The identified genes shared a common β globin cluster haplotype, suggesting a single origin.
Conclusions:
- Hemoglobin Lepore Hollandia is uncommon in the Indian population.
- A combination of chromatographic, electrophoretic, and molecular methods is effective for identification.
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