Literature DB >> 24381431

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

Sanjay Pandey1, Sweta Pandey1, Ravi Ranjan1, Rahasyamani Mishra2, Monica Sharma1, Renu Saxena1.   

Abstract

Asian Indian inversion deletion Gγ (Aγδβ)0-thalassemia is a rare entities characterized by high HbF. Due to interaction with various genetic factors, patients with Gγ (Aγδβ)0-thalassemia showed clinical variability. Here we are presenting the phenotypic expression of Gγ(Aγδβ)0 thalassemia under influence of various co-inherited factors. Patient with α-globin gene deletion had mild phenotype than the patient with β-globin mutations. Patient with alpha gene deletion were presenting clinical character like thalassemia intermedia while Gγ (Aγδβ)0-thalassemia patients with co- presence of beta thalssemia mutation clinically behaved like thalassemia major.

Entities:  

Keywords:  Delta beta thalassemia; Gap-PCR; PCR; Thalassemia

Year:  2012        PMID: 24381431      PMCID: PMC3547438          DOI: 10.1007/s12291-012-0232-9

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN: 0970-1915


  19 in total

1.  The spectrum of beta-thalassaemia mutations on the Indian subcontinent: the basis for prenatal diagnosis.

Authors:  N Y Varawalla; J M Old; R Sarkar; R Venkatesan; D J Weatherall
Journal:  Br J Haematol       Date:  1991-06       Impact factor: 6.998

2.  Rapid diagnosis of alpha-thalassemia-1 of southeast Asia type and hydrops fetalis by polymerase chain reaction.

Authors:  J G Chang; L S Lee; C P Lin; P H Chen; C P Chen
Journal:  Blood       Date:  1991-08-01       Impact factor: 22.113

3.  Homozygosity for a new type of G gamma (A gamma delta beta)zero-thalassemia in a Malaysian male.

Authors:  E George; K Faridah; R J Trent; B J Padanilam; H J Huang; T H Huisman
Journal:  Hemoglobin       Date:  1986       Impact factor: 0.849

Review 4.  Fetal hemoglobin levels in adults.

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

5.  Detection of common deletional alpha-thalassemia-2 determinants by PCR.

Authors:  E Baysal; T H Huisman
Journal:  Am J Hematol       Date:  1994-07       Impact factor: 10.047

6.  Major rearrangement in the human beta-globin gene cluster.

Authors:  R W Jones; J M Old; R J Trent; J B Clegg; D J Weatherall
Journal:  Nature       Date:  1981-05-07       Impact factor: 49.962

7.  A comparison of the homozygous states for G gamma and G gamma A gamma delta beta thalassaemia.

Authors:  A B Amin; N L Pandya; P P Diwin; P D Darbre; C Kattamis; A Metaxatou-Mavromati; J M White; W G Wood; J B Clegg; D J Weatherall
Journal:  Br J Haematol       Date:  1979-12       Impact factor: 6.998

8.  Rapid detection of Spanish (delta beta)zero-thalassemia deletion by polymerase chain reaction.

Authors:  J L Vives-Corrons; M A Pujades; A Miguel-García; A Miguel-Sosa; S Cambiazzo
Journal:  Blood       Date:  1992-09-15       Impact factor: 22.113

9.  Determination of the breakpoint and molecular diagnosis of a common alpha-thalassaemia-1 deletion in the Indian population.

Authors:  R V Shaji; S E Eunice; S Baidya; A Srivastava; M Chandy
Journal:  Br J Haematol       Date:  2003-12       Impact factor: 6.998

Review 10.  Relationship between genotype and phenotype. Thalassemia intermedia.

Authors:  R Galanello; A Cao
Journal:  Ann N Y Acad Sci       Date:  1998-06-30       Impact factor: 5.691

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

Authors:  Jitender Mohan Khunger; Monika Gupta; Rekha Singh; Rohit Kapoor; Hare Ram Pandey
Journal:  J Clin Diagn Res       Date:  2014-09-20

3.  Compound heterozygous state of β-thalassemia with IVS1-5 (G→C) mutation and Indian deletion-inversion Gγ(Aγδβ)(0)-thalassemia in eastern India.

Authors:  Snehadhini Dehury; Prasanta Purohit; Satyabrata Meher; Kishalaya Das; Siris Patel
Journal:  Rev Bras Hematol Hemoter       Date:  2015-05-12
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.