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Compound Heterozygous Hemoglobin D-Punjab/Hemoglobin D-Iran: A Novel Hemoglobinopathy

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Abstract

Cation exchange high performance liquid chromatography (CE- HPLC) is an excellent tool for the diagnosis of various hemoglobin (Hb) disorders. HbD-Punjab is an uncommon structural Hb variant seen in North-India. Rarely, a compound heterozygous state for HbD-Punjab with high HbA2 has been described. We describe an index case whose CE-HPLC showed a compound heterozygous state for Hb-Punjab/HbD-Iran which was confirmed by family study, acid and alkaline electrophoresis and beta gene sequencing. This case highlights the role of alkaline and acid electrophoresis to resolve common peaks that elute with HbA2 on CE-HPLC. To the best of our knowledge, this compound heterozygous state of HbD-Punjab with HbD-Iran has not been reported earlier.

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Authors and Affiliations

  1. Department of Hematology, Sir Ganga Ram Hospital, New Delhi, India

    Aastha Gupta, Amrita Saraf, Jasmita Dass, Meenal Mehta & Manorama Bhargava

  2. Department of Pediatric Hematology-Oncology, Sir Ganga Ram Hospital, New Delhi, India

    Nita Radhakrishnan

  3. Department of Medical Genetics, Sir Ganga Ram Hospital, New Delhi, India

    Renu Saxena

Authors
  1. Aastha Gupta
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  2. Amrita Saraf
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  3. Jasmita Dass
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  4. Meenal Mehta
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  5. Nita Radhakrishnan
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  6. Renu Saxena
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  7. Manorama Bhargava
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Correspondence to Jasmita Dass.

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Gupta, A., Saraf, A., Dass, J. et al. Compound Heterozygous Hemoglobin D-Punjab/Hemoglobin D-Iran: A Novel Hemoglobinopathy. Indian J Hematol Blood Transfus 30 (Suppl 1), 409–412 (2014). https://doi.org/10.1007/s12288-014-0441-x

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  • DOI: https://doi.org/10.1007/s12288-014-0441-x

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