Literature DB >> 25332633

Compound heterozygous hemoglobin d-punjab/hemoglobin d-iran: a novel hemoglobinopathy.

Aastha Gupta1, Amrita Saraf1, Jasmita Dass1, Meenal Mehta1, Nita Radhakrishnan2, Renu Saxena3, Manorama Bhargava1.   

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.

Entities:  

Keywords:  Compound heterozygous; HbD-Iran; HbD-Punjab; Hemoglobin variant; Novel hemoglobinopathy

Year:  2014        PMID： 25332633      PMCID： PMC4192197          DOI： 10.1007/s12288-014-0441-x

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


  6 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

2.  Sickle cell anemia a molecular disease.

Authors:  L PAULING; H A ITANO
Journal:  Science       Date:  1949-11-25       Impact factor: 47.728

3.  Sickle cell-hemoglobin D Iran: benign sickle cell syndrome.

Authors:  B Serjeant; E Myerscough; G R Serjeant; D R Higgs; W F Moo-Penn
Journal:  Hemoglobin       Date:  1982       Impact factor: 0.849

4.  Hemoglobin D-Punjab syndromes in India: a single center experience on cation-exchange high performance liquid chromatography.

Authors:  Upendra Srinivas; H P Pati; Renu Saxena
Journal:  Hematology       Date:  2010-06       Impact factor: 2.269

5.  A novel double heterozygous, HbD Punjab/HbQ India, hemoglobinopathy.

Authors:  Trefor Higgins; Kareena Schnabl; Margo Savoy; Pamela Rowe; Marco Flamini; Sunil Bananda
Journal:  Clin Biochem       Date:  2011-12-08       Impact factor: 3.281

6.  Detection of Hb variants and hemoglobinopathies in Indian population using HPLC: report of 2600 cases.

Authors:  Ritesh Sachdev; Arpita R Dam; Gaurav Tyagi
Journal:  Indian J Pathol Microbiol       Date:  2010 Jan-Mar       Impact factor: 0.740
  6 in total
  3 in total

1.  Serendipity: A Rare Discovery of Haemoglobin D-Iran in An Indian Female During Routine Antenatal Screening for β-Thalassemia.

Authors:  Rittu Surjit Chandel; Abhishek Roy; Leela Gul Abichandani
Journal:  J Clin Diagn Res       Date:  2015-07-01

2.  Comparison of the characteristics of two hemoglobin variants, Hb D-Iran and Hb E, eluting in the Hb A2 window.

Authors:  Jasmita Dass; Aastha Gupta; Suchi Mittal; Amrita Saraf; Sabina Langer; Manorama Bhargava
Journal:  Blood Res       Date:  2017-06-22

3.  Compound heterozygote of Hb DIran [HBB: c.67G>C, β 22(B4) Glu>Gln] with β0-thalassemia [cds 41/42 (-CTTT)] from Eastern India.

Authors:  Pradeep Kumar Mohanty; Satyabrata Meher; Snehadhini Dehury; Subhra Bhattacharya; Kishalaya Das; Siris Patel; Biswanath Sarkar
Journal:  Rev Bras Hematol Hemoter       Date:  2017-12-01
  3 in total

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