A rare thalassemic syndrome caused by interaction of Hb Adana [alpha59(E8)Gly-->Asp] with an alpha+-thalassemia deletion: clinical aspects in two cases.
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.
Douna
Varvara
V
Hematology Laboratory, P and A Kyriakou Children's Hospital, Athens, Greece.
Papassotiriou
Ioannis
I
Garoufi
Anastasia
A
Georgouli
Eleni
E
Ladis
Vassilis
V
Stamoulakatou
Alexandra
A
Metaxotou-Mavrommati
Anna
A
Kanavakis
Emmanuel
E
Traeger-Synodinos
Joanne
J
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
D006455:Hemoglobins, Abnormal; C083925:hemoglobin Adana