Mild Thalassemia Intermedia Resulting from a New Insertion/Frameshift Mutation in the β-Globin Gene

Content Provider	Scilit
Author	Williamson, D. Brown, K. P. Langdown, J. V. Baglin, T. P.
Copyright Year	1997
Description	Hematological investigation of an antenatal patient led to the identification of a new β-thalassemia mutation involving the net insertion of eight nucleotides into exon 2 of the β-globin gene. As a result of the shift in the protein reading frame, this gene codes for an elongated β-globin chain (159 amino acids) with an abnormal amino acid sequence beyond residue β99. There is no evidence of any abnormal hemoglobin in the circulation. The patient has a mild form of ß-thalassemia intermedia with moderate anemia, evidence of iron overload, severe red cell morphological changes, a significant reticulocytosis, and a marked increase in the proportion of fetal hemoglobin.
Related Links	http://www.tandfonline.com/doi/pdf/10.3109/03630269708999179
Ending Page	493
Page Count	9
Starting Page	485
ISSN	03630269
e-ISSN	1532432X
DOI	10.3109/03630269708999179
Journal	Hemoglobin
Issue Number	6
Volume Number	21
Language	English
Publisher	Informa UK Limited
Publisher Date	1997-01-01
Access Restriction	Open
Subject Keyword	Journal: Hemoglobin Mild Thalassemia Thalassemia Intermedia Intermedia Resulting Globin New Insertion/frameshift Globin Gene Insertion/frameshift Mutation
Content Type	Text
Resource Type	Article
Subject	Biochemistry (medical) Hematology Clinical Biochemistry Genetics (clinical)