Two New Hemoglobin Variants: Hb Brem-Sur-Mer [β9(A6)Ser→Tyr] and Hb Passy [α81(F2)Ser→Pro (α2)]

Autor:	Michel Becchi, Mathieu Moreau, Alain Francina, Philippe Lacan, Nicole Couprie, Isabelle Zanella-Cléon, Martine Aubry, Jean-Jacques Louis
Rok vydání:	2005
Předmět:	Genetics Mutation Chemistry Microcytosis Biochemistry (medical) Clinical Biochemistry Hemoglobin variants Hematology medicine.disease medicine.disease_cause Molecular biology DNA sequencing Exon Hypochromia medicine Hemoglobin Gene Genetics (clinical)
Zdroj:	Hemoglobin. 29:69-75
ISSN:	1532-432X 0363-0269
DOI:	10.1081/hem-47063
Popis:	Two 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).
Databáze:	OpenAIRE
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