title: Interaction of Hb adana (HBA2: c.179G>A) with deletional and nondeletional α(+)-thalassemia mutations: diverse hematological and clinical features.
abstract: 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.
authors.affiliation: Biomedical Sciences Doctoral Programme, Faculty of Medicine, University of Indonesia, Jakarta, Indonesia.
authors.forename: Ita M
authors.initials: IM
authors.lastname: Nainggolan
authors.forename: Alida
authors.initials: A
authors.lastname: Harahap
authors.forename: Debby D
authors.initials: DD
authors.lastname: Ambarwati
authors.forename: Rosalina V
authors.initials: RV
authors.lastname: Liliani
authors.forename: Dewi
authors.initials: D
authors.lastname: Megawati
authors.forename: Maria
authors.initials: M
authors.lastname: Swastika
authors.forename: Iswari
authors.initials: I
authors.lastname: Setianingsih
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004843:Epistasis, Genetic; D005260:Female; D005838:Genotype; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D060885:Multiplex Polymerase Chain Reaction; D009154:Mutation; D010641:Phenotype; D017384:Sequence Deletion; D012720:Severity of Illness Index; D017085:alpha-Thalassemia / Q000235:genetics* / Q000503:physiopathology
chemical_list: D006455:Hemoglobins, Abnormal; C083925:hemoglobin Adana