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| Kimura,E.M.; Grignoli,C.R.E.; Pinheiro,V.R.P.; Costa,F.F.; Sonati,M.F.. |
| 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... |
| Tipo: Info:eu-repo/semantics/other |
Palavras-chave: SS-Thalassemia; Thalassemia intermedia; Triplicated alpha-globin genes; Hemoglobinopathies. |
| Ano: 2003 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600003 |
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| Torre,Lourdes del Carmen Rizo de la; Díaz,Francisco Javier Perea; Cortés,Bertha Ibarra; López,Víctor Manuel Rentería; López,Josefina Yoaly Sánchez; Anzaldo,Francisco Javier Sánchez; Torres,María Teresa Magaña; Gonnet,Katia; Badens,Catherine; Bonello-Palot,Nathalie. |
| Abstract Beta thalassemia (β-thal) is a frequent monogenic disease, is clinically and molecularly heterogeneous. This study described molecular and laboratory findings for three Mexican patients with β-thal intermedia phenotype and their relatives. Three Mexican families were studied for presenting β-thal intermedia, ARMS-PCR and Gap-PCR were performed to screen for common mutations, Sanger sequencing for rare or new alleles, and MLPA for identifying deletions and or duplications. In all three families we observed, in heterozygote condition, the mutation c.118C > T (p.Gln39*) also known as codon 39(C > T) in the β globin gene (HBB) associated with a novel molecular defect: a new duplication of the alpha globin gene cluster, a new deletion that... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Thalassemia intermedia; Mexican population; Β globin gene; New mutations; Alpha-globin gene duplication. |
| Ano: 2019 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572019000500104 |
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