title: A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases.
abstract: Hb Adana is a highly unstable and rare alpha-globin hemoglobin (Hb) variant, to date described in only three families, in interaction with other alpha-thalassemia (alpha-thal) deletions. We describe the clinical and hematological findings in two cases from independent families of Albanian origin, who have an interaction of the codon 59 (Gly-->Asp) alpha2-globin gene variant in trans to a 3.7 kb alpha(+)-thal deletion (alpha(codon 59)alpha/-alpha). We report their presenting symptoms and laboratory findings as well as complications and differences in their clinical management. Both cases can be characterized as thalassemia intermedia and illustrate the problems associated with selecting the most appropriate options for patient management, especially in cases with rare underlying genotypes.
authors.affiliation: Hematology Laboratory, P and A Kyriakou Children's Hospital, Athens, Greece.
authors.forename: Varvara
authors.initials: V
authors.lastname: Douna
authors.forename: Ioannis
authors.initials: I
authors.lastname: Papassotiriou
authors.forename: Anastasia
authors.initials: A
authors.lastname: Garoufi
authors.forename: Eleni
authors.initials: E
authors.lastname: Georgouli
authors.forename: Vassilis
authors.initials: V
authors.lastname: Ladis
authors.forename: Alexandra
authors.initials: A
authors.lastname: Stamoulakatou
authors.forename: Anna
authors.initials: A
authors.lastname: Metaxotou-Mavrommati
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Kanavakis
authors.forename: Joanne
authors.initials: J
authors.lastname: Traeger-Synodinos
mesh_terms: D000415:Albania; D002648:Child; D019468:Disease Management; D005190:Family; D005260:Female; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D020125:Mutation, Missense; D010641:Phenotype; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D006455:Hemoglobins, Abnormal; C083925:hemoglobin Adana