Open AccessThalassemia intermedia phenotype resulting from rare combination of c.46delT [Codon15 (‐T)] mutation of beta globin gene and HPFH 3
Author(s) -
Kelkar Anjali J.,
Moses Anu
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.990
Subject(s) - phenotype , intermedia , genotype , beta thalassemia , medicine , thalassemia , genotype phenotype distinction , gene , genetics , mutation , beta (programming language) , biology , art , performance art , art history , computer science , programming language
Key Clinical Message The beta thalassemia intermedia phenotype has several genotypes. Hematological and molecular diagnostic approach and logical and sequential conduct of various investigations are necessary for the diagnosis of these disorders. Close observations of the genotype–phenotype correlation will provide a better insight for the development of molecular therapy.