Hb Florida: a novel elongated C-terminal beta-globin variant causing dominant beta-thalassemia phenotype.
We report here a new frameshift mutation in exon 3 of the beta-globin gene, a single nucleotide deletion (-C) in between codons 140/141 (GCC/CTG-->GCC/TG), found in an 8-year-old Argentinean girl with clinical picture of thalassemia intermedia. It leads to a beta-chain that is elongated to 156 amino acids [(141)Trp-Pro-Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu-Ser-Asn-Phe-(156)Tyr-COOH]. The resulting hemoglobin, which we named Hb Florida, was not detected in peripheral blood; however, erythroid hyperplasia and dyserythropoiesis with large inclusion bodies on methyl violet staining were observed in bone marrow, suggesting that this is a hyperunstable variant producing a dominant beta-thalassemia phenotype, since the other beta-allele was completely normal.
Weinstein
B I
BI
Hematology Department, French Hospital, Buenos Aires, Argentina.
Erramouspe
B
B
Albuquerque
D M
DM
Oliveira
D M
DM
Kimura
E M
EM
Costa
F F
FF
Sonati
M F
MF
D001483:Base Sequence; D002648:Child; D005260:Female; D016368:Frameshift Mutation; D005914:Globins / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017384:Sequence Deletion; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D005914:Globins