Τίτλος:
A rare thalassemic syndrome caused by interaction of Hb Adana [α59(E8)Gly→Asp] with an α+-thalassemia deletion: Clinical aspects in two cases
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
Hb Adana is a highly unstable and rare α-globin hemoglobin (Hb) variant, to date described in only three families, in interaction with other α-thalassemia (α-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) α2-globin gene variant in trans to a 3.7 kb α+-thal deletion (αcodon 59α/-α). 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. Copyright © Informa Healthcare USA, Inc.
Συγγραφείς:
Douna, V.
Papassotiriou, I.
Garoufi, A.
Georgouli, E.
Ladis, V.
Stamoulakatou, A.
Metaxotou-Mavrommati, A.
Kanavakis, E.
Traeger-Synodinos, J.
Περιοδικό:
Hemoglobin: Interrnational Journal for Hemoglobin Research
Λέξεις-κλειδιά:
alpha globin; cortisone; folic acid; hemoglobin Adana; hemoglobin variant, adult; alpha thalassemia; anamnesis; article; autoimmune hemolytic anemia; beta thalassemia; blood analysis; blood transfusion; case report; clinical feature; erythrocyte concentrate; female; gene deletion; gene mutation; genetic association; genotype; globin gene; hepatomegaly; human; laboratory test; osteoporosis; patient care; splenomegaly; symptom, Albania; alpha-Thalassemia; Child; Disease Management; Family; Female; Hemoglobins, Abnormal; Humans; Infant; Mutation, Missense; Phenotype; Sequence Deletion
DOI:
10.1080/03630260802173890
