Hb Plasencia [α125(H8)Leu→Arg (α2)] is a frequent cause of α+-thalassemia in the Portuguese population.
Hb Plasencia is a thalassemic hemoglobin (Hb) mutation caused by a leucine to arginine replacement at residue 125 of the α2-globin chain (HBA2:c.377T>G). This variant was first described in the heterozygous state in association with a very mild α-thalassemic phenotype in three members of a Spanish family from Plasencia, Western Spain. Reviewing the molecular characterization of 308 Portuguese individual suspected of having α-thalassemia (α-thal) we found Hb Plasencia to be the second most frequent mutation after the -α(3.7) deletion.
Centro Hospitalar e Universitário de Coimbra, EPE, Serviço de Hematologia, Coimbra, Portugal.
Elizabete
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Cunha
Celeste
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Bento
Ana
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Oliveira
Luís
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Joana
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Neves
Mariline
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Gameiro
Cristina
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Barros
Ana
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Araújo
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Paula
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Rocha
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Ribeiro
D002851:Chromatography, High Pressure Liquid; D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011174:Portugal; D055542:alpha-Globins / Q000235:genetics*; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C557565:hemoglobin Plasencia