A rare thalassemic syndrome caused by interaction of Hb adana [alpha 59(E8)Gly -> Asp] with an alpha(+)-thalassemia deletion: Clinical aspects in two cases

作者：Douna Varvara; Papassotiriou Ioannis; Garoufi Anastasia; Georgouli Eleni; Ladis Vassilis; Stamoulakatou Alexandra; Metaxotou Mavrommati Anna; Kanavakis Emmanuel; Traeger Synodinos Joanne^*

来源：Hemoglobin, 2008, 32(4): 361-369.

DOI：10.1080/03630260802173890

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) alpha 2-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.

• 出版日期2008