Phenotypic Heterogeneity of Asian Indian Inversion Deletions G[gamma]0 Breakpoint A and Breakpoint B

Asian Indian inversion deletion G[gamma] (A[gamma][delta][beta])0-thalassemia is a rare entities characterized by high HbF. Due to interaction with various genetic factors, patients with G[gamma] (A[gamma][delta][beta])0-thalassemia showed clinical variability. Here we are presenting the phenotypic...

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Bibliographic Details
Published in:Indian journal of clinical biochemistry 2013-01, Vol.28 (1), p.98
Main Authors: Pandey, Sanjay, Pandey, Sweta, Ranjan, Ravi, Mishra, Rahasyamani, Sharma, Monica, Saxena, Renu
Format: Article
Language:English
Subjects:
Biochemistry
Blood diseases
Gene expression
Genotype & phenotype
Hematology
Polymerase chain reaction
Online Access:Get full text
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Summary:Asian Indian inversion deletion G[gamma] (A[gamma][delta][beta])0-thalassemia is a rare entities characterized by high HbF. Due to interaction with various genetic factors, patients with G[gamma] (A[gamma][delta][beta])0-thalassemia showed clinical variability. Here we are presenting the phenotypic expression of G[gamma](A[gamma][delta][beta])0 thalassemia under influence of various co-inherited factors. Patient with [alpha]-globin gene deletion had mild phenotype than the patient with [beta]-globin mutations. Patient with alpha gene deletion were presenting clinical character like thalassemia intermedia while G[gamma] (A[gamma][delta][beta])0-thalassemia patients with co- presence of beta thalssemia mutation clinically behaved like thalassemia major.
ISSN:0970-1915
0974-0422
DOI:10.1007/s12291-012-0232-9