Literature DB >> 25386442

Haematological characterisation and molecular basis of asian Indian inversion deletions delta Beta thalassemia: a case report.

Jitender Mohan Khunger1, Monika Gupta2, Rekha Singh3, Rohit Kapoor4, Hare Ram Pandey5.   

Abstract

The hereditary persistence of fetal hemoglobin (HPFH) and delta beta thalassemia are heterogeneous disorders characterised by increased levels of fetal hemoglobin and high level of this Hb continues in adulthood. The distinction between these two conditions is not always possible with routine hematologic analysis and molecular characterisation of the defect is required. We encountered such a rare case of δ β thalassemia in a 10-year-old male child who presented with features of thalassemia intermedia. Hemoglobin analysis showed 100% HbF while molecular analysis revealed Asian Indian inversion-deletion GγAγ(δ β) zero thalassemia.

Entities:  

Keywords:  Fetal haemoglobin; Gap- PCR; Genetic counselling; GγAγ(δ β)0 thalassemia; Hematology analyser; Hereditary persistence of fetal hemoglobin; Thalassemia intermedia

Year:  2014        PMID: 25386442      PMCID: PMC4225894          DOI: 10.7860/JCDR/2014/8362.4776

Source DB:  PubMed          Journal:  J Clin Diagn Res        ISSN: 0973-709X


  6 in total

Review 1.  Fetal hemoglobin levels in adults.

Authors:  J Rochette; J E Craig; S L Thein
Journal:  Blood Rev       Date:  1994-12       Impact factor: 8.250

Review 2.  Increased HbF in adult life.

Authors:  W G Wood
Journal:  Baillieres Clin Haematol       Date:  1993-03

3.  Phenotypic heterogeneity of asian Indian inversion deletions gγ(aγδβ)0 breakpoint a and breakpoint B.

Authors:  Sanjay Pandey; Sweta Pandey; Ravi Ranjan; Rahasyamani Mishra; Monica Sharma; Renu Saxena
Journal:  Indian J Clin Biochem       Date:  2012-06-15

4.  Evaluation of HPFH and δβ-thalassemia mutations in a Brazilian group with high Hb F levels.

Authors:  G C S Carrocini; L S Ondei; P J A Zamaro; C R Bonini-Domingos
Journal:  Genet Mol Res       Date:  2011-12-21

5.  Molecular basis and hematologic characterization of deltabeta-thalassemia and hereditary persistence of fetal hemoglobin in Thailand.

Authors:  Sitthichai Panyasai; Supan Fucharoen; Satja Surapot; Goonnapa Fucharoen; Kanokwan Sanchaisuriya
Journal:  Haematologica       Date:  2004-07       Impact factor: 9.941

6.  Molecular and hematological characterization of HPFH-6/Indian deletion-inversion Ggamma(Agammadeltabeta)0-thalassemia and Ggamma(Agammadeltabeta)0-thalassemia/HbE in Thai patients.

Authors:  Supan Fucharoen; Yutthana Pengjam; Satja Surapot; Goonnapa Fucharoen; Kanokwan Sanchaisuriya
Journal:  Am J Hematol       Date:  2002-10       Impact factor: 10.047

  6 in total
  2 in total

1.  A Compound Heterozygous Asian Indian Inversion Deletion Gγ(Aγδβ)0 with β-Thalassemia in Central India: A Case Report.

Authors:  Harsha Lad; Pawan Ghanghoria; Rajiv Yadav; Purushottam Patel; Anil Gwal; Rajasubramaniam Shanmugam
Journal:  Indian J Hematol Blood Transfus       Date:  2017-03-27       Impact factor: 0.900

2.  Delta beta thalassemia: a rare hemoglobin variant.

Authors:  Huma Mansoori; Sidra Asad; Anila Rashid; Farheen Karim
Journal:  Blood Res       Date:  2016-09-23
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.