Mild thalassemia intermedia resulting from a new insertion/frameshift mutation in the beta-globin gene.
Hematological investigation of an antenatal patient led to the identification of a new beta-thalassemia mutation involving the net insertion of eight nucleotides into exon 2 of the beta-globin gene. As a result of the shift in the protein reading frame, this gene codes for an elongated beta-globin chain (159 amino acids) with an abnormal amino acid sequence beyond residue beta 99. There is no evidence of any abnormal hemoglobin in the circulation. The patient has a mild form of beta-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.
Williamson
D
D
University Department of Haematology, Medical Research Council Centre, Cambridge, UK.
Brown
K P
KP
Langdown
J V
JV
Baglin
T P
TP
D000328:Adult; D000595:Amino Acid Sequence; D002874:Chromosome Mapping; D005260:Female; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins