Variable and often severe phenotypic expression in patients with the α-thalassemic variant Hb Agrinio [α29(B10)Leu→Pro (α2)].
Hb Agrinio [α29(B10)Leu→Pro] is a highly unstable variant, classified as a nondeletional α-thalassemia (α-thal) mutation. To date it has only been described in individuals of Greek and Cypriot origin. Evaluation of the phenotypic presentation of 12 Hb Agrinio homozygotes or compound heterozygotes, diagnosed in a single center in Greece during a 15-year period, found a wide clinical expression, ranging from thalassemia intermedia (with or without transfusion requirement) to Hb H hydrops fetalis, with some phenotype-to-genotype correlation. The often severe clinical presentation of Hb Agrinio homozygotes or Hb Agrinio compound heterozygotes, coinheriting severe α-thal determinants, indicates that molecular identification of carriers of the Hb Agrinio mutation should be considered within the context of screening programs involving individuals of Greek and Cypriot origin. Selective molecular investigation of candidate carriers is facilitated by the observation that all heterozygotes for the Hb Agrinio mutation present with at least one hematological parameter implicating an α-thal carrier state.
Traeger-Synodinos
Joanne
J
Medical Genetics, Athens University Medical School, Aghia Sophia Children's Hospital, Athens, Greece. jtraeger@med.uoa.gr
Douna
Varvara
V
Papassotiriou
Ioannis
I
Stamoulakatou
Alexandra
A
Ladis
Vasilis
V
Siahanidou
Tania
T
Fylaktou
Irine
I
Kanavakis
Emmanuel
E
D000293:Adolescent; D019943:Amino Acid Substitution; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D014644:Genetic Variation; D005838:Genotype; D006115:Greece; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics; D017085:alpha-Thalassemia / Q000097:blood / Q000175:diagnosis / Q000235:genetics*
D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C556236:hemoglobin Agrinio