Literature DB >> 29075078

A Novel Double Heterozygous Hb D-Punjab/Hb J-Meerut Hemoglobinopathy.

Dinesh Chandra1, Seema Tyagi1, Roopam Deka1, Richa Chauhan1, Tulika Seth1, Renu Saxena1, H P Pati1.   

Abstract

A comprehensive laboratory diagnosis of hemoglobinopathies forms an integral part in workup of disorders of globin chain synthesis. Clinical findings, complete blood counts, peripheral smear examination along with hemoglobin (Hb) electrophoresis and/or cation exchange high performance liquid chromatography findings and parental study helps to clinch a final diagnosis. Compound heterozygous hemoglobinopathy presents with variable clinical findings and some of them are picked up on screening tests done as part of routine antenatal workup. Here we report a rare double heterozygous hemoglobinopathy of Hb D-Punjab and Hb J-Meerut in a 35 year antenatal female.

Entities:  

Keywords:  Double heterozygous Hb D-Punjab; Hb J-Meerut; Hemoglobinopathy

Year:  2016        PMID: 29075078      PMCID: PMC5640522          DOI: 10.1007/s12288-016-0763-y

Source DB:  PubMed          Journal:  Indian J Hematol Blood Transfus        ISSN: 0971-4502            Impact factor:   0.900


  4 in total

1.  HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60000 samples in a clinical diagnostic laboratory.

Authors:  Alla Joutovsky; Joan Hadzi-Nesic; Michael A Nardi
Journal:  Clin Chem       Date:  2004-10       Impact factor: 8.327

Review 2.  Hb J Meerut, a fast-moving hemoglobin: a study of seven cases from India and a review of literature.

Authors:  Upendra Srinivas; Manoranjan Mahapatra; H P Pati
Journal:  Am J Hematol       Date:  2007-07       Impact factor: 10.047

3.  Spectrum of haemoglobinopathies diagnosed by cation exchange-HPLC & modulating effects of nutritional deficiency anaemias from north India.

Authors:  Seema Rao; Rakhee Kar; Sanjeev Kumar Gupta; Anita Chopra; Renu Saxena
Journal:  Indian J Med Res       Date:  2010-11       Impact factor: 2.375

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

Authors:  Deepti Mutreja; Seema Tyagi; Narender Tejwani; Jasmita Dass
Journal:  Indian J Hum Genet       Date:  2013-10
  4 in total

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