Two New Hemoglobin Variants: Hb Brem-Sur-Mer [β9(A6)Ser→Tyr] and Hb Passy [α81(F2)Ser→Pro (α2)]
2005; Taylor & Francis; Volume: 29; Issue: 1 Linguagem: Inglês
10.1081/hem-47063
ISSN1532-432X
AutoresPhilippe Lacan, Mathieu Moreau, Michel Becchi, Isabelle Zanella‐Cléon, Martine Aubry, Jean-Jacques Louis, Nicole Couprie, Alain Francina,
Tópico(s)Iron Metabolism and Disorders
ResumoTwo new hemoglobin (Hb) variants: Hb Brem-sur-Mer [codon 9 (TC T→TA T); β9(A6)Ser→Tyr] on the first exon of the β-globin gene and Hb Passy [codon 81 (T CC→C CC); α81(F2)Ser→Pro (α2)] on the second exon of the α2-globin gene, are described. The two variants were characterized by DNA sequencing and mass spectrometry (MS). Hematological abnormalities: microcytosis and hypochromia were found only in the carrier of Hb Passy. In the absence of an association with an α-thalassemic deletion or mutation, the mutation 81(F2)Pro could induce a possible α-thalassemia (thal).
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