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Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases

Cation exchange high performance liquid chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. HbQ India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in double heterozygous state wit...

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Autores principales: Mutreja, Deepti, Tyagi, Seema, Tejwani, Narender, Dass, Jasmita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897148/
https://www.ncbi.nlm.nih.gov/pubmed/24497718
http://dx.doi.org/10.4103/0971-6866.124381
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author Mutreja, Deepti
Tyagi, Seema
Tejwani, Narender
Dass, Jasmita
author_facet Mutreja, Deepti
Tyagi, Seema
Tejwani, Narender
Dass, Jasmita
author_sort Mutreja, Deepti
collection PubMed
description Cation exchange high performance liquid chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. HbQ India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in double heterozygous state with HbD Punjab is extremely rare. The double heterozygosity for α and β chain variants leads to formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. We report two rare cases of double heterozygous HbQ India/HbD Punjab where the hybrid Hb was seen to elute at retention time similar to HbC on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation; while, the second case was asymptomatic.
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spelling pubmed-38971482014-02-04 Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases Mutreja, Deepti Tyagi, Seema Tejwani, Narender Dass, Jasmita Indian J Hum Genet Case Report Cation exchange high performance liquid chromatography (CE HPLC) provides an excellent tool for accurate and reliable diagnosis of various hemoglobin (Hb) disorders. HbQ India is a rare alpha chain variant that usually presents in the heterozygous state. Its presence in double heterozygous state with HbD Punjab is extremely rare. The double heterozygosity for α and β chain variants leads to formation of abnormal heterodimer hybrids, which can lead to diagnostic dilemmas. We report two rare cases of double heterozygous HbQ India/HbD Punjab where the hybrid Hb was seen to elute at retention time similar to HbC on CE HPLC. The first case had unconjugated hyperbilirubinemia at presentation; while, the second case was asymptomatic. Medknow Publications & Media Pvt Ltd 2013 /pmc/articles/PMC3897148/ /pubmed/24497718 http://dx.doi.org/10.4103/0971-6866.124381 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Mutreja, Deepti
Tyagi, Seema
Tejwani, Narender
Dass, Jasmita
Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
title Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
title_full Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
title_fullStr Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
title_full_unstemmed Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
title_short Double heterozygous hemoglobin Q India/hemoglobin D Punjab hemoglobinopathy: Report of two rare cases
title_sort double heterozygous hemoglobin q india/hemoglobin d punjab hemoglobinopathy: report of two rare cases
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897148/
https://www.ncbi.nlm.nih.gov/pubmed/24497718
http://dx.doi.org/10.4103/0971-6866.124381
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