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Hemoglobin
international journal for hemoglobin research
Volume 29, 2005 - Issue 3
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Short Communication

Compound Heterozygosity for Hb E and Hb Lepore-Hollandia in India; First Report and Potential Diagnostic Pitfalls

Eunice Sindhuvi Edison Department of Haematology, Christian Medical College, Vellore, India
,
Ramachandran V. Shaji Department of Haematology, Christian Medical College, Vellore, India
,
Alok Srivastava Department of Haematology, Christian Medical College, Vellore, India
&
Mammen Chandy Department of Haematology, Christian Medical College, Vellore, IndiaCorrespondence[email protected]
, F.R.C.P.A. , M.D. , F.R.A.C.P.
Pages 221-224 | Received 07 Mar 2005, Accepted 23 Mar 2005, Published online: 07 Jul 2009
 
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Abstract

A compound heterozygous state of Hb E [β26(B8)Glu→Lys] with Hb Lepore is rare with very few cases reported in the literature. This report describes the first such case from India. The clinical features and hemoglobin (Hb) analysis mimic Hb E-β-thalassemia (thal) but with a mild phenotype. Detection was made possible in this case because DNA analysis gave discrepant results suggestive of homozygous Hb E. As this was inconsistent with the clinical phenotype and Hb analysis, further evaluation was undertaken that confirmed the presence of Hb Lepore. This study shows that cases of Hb E/Lepore may remain undetected unless family studies and/or detailed DNA analyses in patients diagnosed to have Hb E-β-thal are performed

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