Beta-thalassemia intermedia in a Brazilian patient with-101 (C > T) and codon 39 (C > T) mutations.
BACKGROUND
We verified molecular alterations in a 72-year-old Brazilian male patient with a clinical course of homozygous beta-thalassemia intermedia, who had undergone splenectomy and was surviving without regular blood transfusions. The blood cell count revealed microcytic and hypochromic anemia (hemoglobin = 6.5 g/dl, mean cell volume = 74 fl, mean cell hemoglobin = 24 pg) and hemoglobin electrophoresis showed fetal hemoglobin = 1.3%, hemoglobin A2 = 6.78% and hemoglobin A = 79.4%.


OBJECTIVE
To identify mutations in a patient with the symptoms of beta-thalassemia intermedia.


METHODS
Molecular inquiry into the mutations possibly responsible for the clinical picture described.


METHODS
The structural molecular biology and genetic engineering center of the Universidade Estadual de Campinas, Campinas, Brazil.


METHODS
DNA extraction was performed on the patient's blood samples. The polymerase chain reaction (PCR) was done using five specific primers that amplified exons and the promoter region of the beta globin gene. The samples were sequenced and then analyzed via computer programs.


RESULTS
Two mutations that cause the disease were found: -101 (C > T) and codon 39 (C > T).


CONCLUSIONS
This case represents the first description of -101 (C > T) mutation in a Brazilian population and it is associated with a benign clinical course.
de Sousa
Sylvia Morais
SM
Centro de Biologia Molecular Estrutural e Engenharia Genética, Hemocentro, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil. smsoursa@unicamp.br
Khater
Letícia
L
Peroni
Luis Antônio
LA
Miranda
Karine
K
Murai
Marcelo Jun
MJ
Albuquerque
Dulcinéia Marlins
DM
Arruda
Paulo
P
Saad
Sara Terezinha Ollala
ST
Costa
Fernando Ferreira
FF
D000368:Aged; D003062:Codon / Q000235:genetics; D005914:Globins / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017086:beta-Thalassemia / Q000235:genetics*
D003062:Codon; D005914:Globins