| A novel double heterozygous, HbD PUNJAB/HbQ India, hemoglobinopathy. | |
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MedLine Citation:
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PMID: 22178109 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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INTRODUCTION: Hemoglobinopathies and thalassemias together form the most common genetic disease in the world. Double heterozygosity, in which there is a hemoglobin variant, in both the α- and non-α globin chains, is very unusual. A novel double heterozygosity of the α chain variant HbQ India with the non-α chain HbD Punjab is described. METHODS AND MATERIALS: The index case is a 39year old female of Indian origin. HPLC analysis using the Bio Rad β thalassemia method and electrophoresis at both alkaline and acid pH were performed. RESULTS: HPLC shows four major bands and electrophoresis at alkaline pH shows 3 bands and 2 bands at acid pH. DISCUSSION: Both the HPLC and electrophoresis at alkaline and acid pH are consistent for the double heterozygous hemoglobin variants HbQ India and HbD Punjab. CONCLUSION: This is the first literature report of the double heterozygosity of HbQ India/HbD Punjab. |
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Authors:
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Trefor Higgins; Kareena Schnabl; Margo Savoy; Pamela Rowe; Marco Flamini; Sunil Bananda |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-12-8 |
Journal Detail:
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Title: Clinical biochemistry Volume: - ISSN: 1873-2933 ISO Abbreviation: - Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-12-19 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0133660 Medline TA: Clin Biochem Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Copyright Information:
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Copyright © 2011. Published by Elsevier Inc. |
Affiliation:
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DynaLIFEDx, Edmonton, Alberta. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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