title: Study of three families with Hb Agrinio [α29(B10)Leu→Pro, CTG>CCG (α2)] in the Spanish population: three homozygous cases.
abstract: Most α-thalassemia (α-thal) mechanisms are deletions of one or both α-globin genes and less than 5.0-10.0% are point mutations. Hb Agrinio [α29(B10)Leu→Pro, CTG>CCG (α2)] is a hyperunstable α chain structural variant in which the thalassemic phenotype is determined by a post translational precipitation of the structurally anomalous chain in erythroid precursors. This study involved 14 cases with Hb Agrinio from three families.   Selective sequencing of the α2 gene showed a CTG(Leu)>CCG(Pro) mutation at codon 29. The mutation was found in a heterozygous state in 11 cases and in a homozygous state in three cases. These are the first cases with Hb Agrinio described in Spain. In all cases where a leucine is exchanged for a proline, an unstable hemoglobin (Hb) will occur both in the α and the β chain. Some of these are as unstable as Hb Agrinio and their presence is difficult to detect except by DNA sequencing.
authors.affiliation: Servicio de Hematología, Hospital Clínico San Carlos de Madrid, Madrid, Spain.
authors.forename: Felix
authors.initials: F
authors.lastname: de la Fuente-Gonzalo
authors.forename: Montserrat
authors.initials: M
authors.lastname: Baiget
authors.forename: Isabel
authors.initials: I
authors.lastname: Badell
authors.forename: Pilar
authors.initials: P
authors.lastname: Ricard
authors.forename: Lara
authors.initials: L
authors.lastname: Vinuesa
authors.forename: Jorge
authors.initials: J
authors.lastname: Martínez-Nieto
authors.forename: Paloma
authors.initials: P
authors.lastname: Ropero
authors.forename: Ana
authors.initials: A
authors.lastname: Villegas
authors.forename: Fernando A
authors.initials: FA
authors.lastname: González
authors.forename: Joaquin
authors.initials: J
authors.lastname: Díaz-Mediavilla
authors.lastname: Erythropathology Spanish Group
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003062:Codon; D005190:Family; D005260:Female; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D013030:Spain; D044465:White People / Q000235:genetics*; D055815:Young Adult; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C556236:hemoglobin Agrinio