1.
Hemoglobin
; 37(2): 171-5, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23470150
RESUMO
A 7-year old boy presented with a history of recurrent respiratory infections and hypochromic microcytic anemia. Iron profiles were normal thereby prompting genetic analysis of α- and ß-globin mutations. The first mutation in a BRE motif of the ß-globin gene in the proband, sibling and the mother was identified. The proband and his sibling also inherited common α-globin mutations from the father and mother. In all cases, no serious thalassemia disease was detected.
Assuntos
Análise Mutacional de DNA/métodos , Mutação , alfa-Globinas/genética , Globinas beta/genética , Sequência de Bases , Criança , Saúde da Família , Feminino , Humanos , Líbano , Masculino , Motivos de Nucleotídeos/genética , Talassemia/diagnóstico , Talassemia/genética
2.
Pediatr Ann
; 37(5): 311-21, 2008 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-18543542