| Registro completo |
| Provedor de dados: |
BJMBR
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| País: |
Brazil
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| Título: |
Thalassemia intermedia as a result of heterozygosis for ß0-thalassemia and aaaanti-3.7/aa genotype in a Brazilian patient
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| Autores: |
Kimura,E.M.
Grignoli,C.R.E.
Pinheiro,V.R.P.
Costa,F.F.
Sonati,M.F.
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| Data: |
2003-06-01
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| Ano: |
2003
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| Palavras-chave: |
SS-Thalassemia
Thalassemia intermedia
Triplicated alpha-globin genes
Hemoglobinopathies
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| Resumo: |
We report a case in which the interaction of heterozygosis for both the ß0-IVS-II-1 (G->A) mutation and the <FONT FACE=Symbol>aaa</FONT>anti-3.7 allele was the probable cause for the clinical occurrence of thalassemia intermedia. The propositus, a 6-year-old Caucasian Brazilian boy of Portuguese descent, showed a moderately severe chronic anemia in spite of having the ß-thalassemia trait. Investigation of the alpha-globin gene status revealed heterozygosis for alpha-gene triplication (<FONT FACE=Symbol>aaa</FONT>/<FONT FACE=Symbol>aa</FONT>). The patient's father, also presenting mild microcytic and hypochromic anemia, had the same alpha and ß genotypes as his son, while the mother, not related to the father and hematologically normal, was also a carrier of the <FONT FACE=Symbol>aaa</FONT>anti-3.7 allele. The present case emphasizes the need for considering the possibility of alpha-gene triplication in ß-thalassemia heterozygotes who display an unexpected severe phenotype. The ß-thalassemia mutation found here is being described for the first time in Brazil.
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| Tipo: |
Info:eu-repo/semantics/other
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| Idioma: |
Inglês
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| Identificador: |
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600003
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| Editor: |
Associação Brasileira de Divulgação Científica
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| Relação: |
10.1590/S0100-879X2003000600003
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| Formato: |
text/html
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| Fonte: |
Brazilian Journal of Medical and Biological Research v.36 n.6 2003
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| Direitos: |
info:eu-repo/semantics/openAccess
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