Interaction of Hb adana (HBA2: c.179G>A) with deletional and nondeletional α(+)-thalassemia mutations: diverse hematological and clinical features.

Autor: Nainggolan IM; Biomedical Sciences Doctoral Programme, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia., Harahap A, Ambarwati DD, Liliani RV, Megawati D, Swastika M, Setianingsih I
Jazyk: angličtina
Zdroj: Hemoglobin [Hemoglobin] 2013; Vol. 37 (3), pp. 297-305. Date of Electronic Publication: 2013 Apr 25.
DOI: 10.3109/03630269.2013.775149
Abstrakt: We describe 27 cases of mild-to-severe α-thalassemia (α-thal) syndrome caused by interaction of Hb Adana [α59(E8)Gly→Asp, GGC>GAC (α2)] with deletional and nondeletional α(+)-thal mutations in Indonesian patients. Hematological profiles and clinical manifestations of all patients were assessed by routine procedures. The genotypes were generated by a multiplex-polymerase chain reaction (m-PCR), PCR-RFLP (restriction fragment length polymorphism)-based method, and DNA sequencing. The α-thal patients who had Hb Adana in combination with the 3.7 kb deletion mostly have mild-to-moderate anemia. In contrast, patients who were compound heterozygotes for Hb Adana and nondeletional mutations, generally showed a more severe anemia and it mostly presented in childhood. Thus, accurate diagnosis of α-thal disorders is not only important for future management of these patients but also for providing proper genetic counseling to the family.
Databáze: MEDLINE
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