Beta-thalassemia intermedia in a Brazilian patient with - 101(C > T) and codon 39 (C > T) mutations
São Paulo med. j
;
121(1): 28-30, Jan. 2, 2003.
Article
in English
| LILACS
| ID: lil-341883
RESUMO
CONTEXT: 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 percent, hemoglobin A2 = 6.78 percent and hemoglobin A = 79.4 percent. OBJECTIVE: To identify mutations in a patient with the symptoms of beta-thalassemia intermedia. DESIGN: Molecular inquiry into the mutations possibly responsible for the clinical picture described. SETTING: The structural molecular biology and genetic engineering center of the Universidade Estadual de Campinas, Campinas, Brazil. PROCEDURES: 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
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Globins
/
Point Mutation
/
Beta-Thalassemia
Type of study:
Prognostic study
Limits:
Aged
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
São Paulo med. j
Journal subject:
Cirurgia Geral
/
Cincia
/
Ginecologia
/
Medicine
/
Medicina Interna
/
Obstetr¡cia
/
Pediatria
/
Sa£de Mental
/
Sa£de P£blica
Year:
2003
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Laboratório Nacional de Luz Síncroton/BR
/
Universidade Estadual de Campinas/BR
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