Interaction of Hb Adana (HBA2: c.179G>A) with Deletional and Nondeletional α+-Thalassemia Mutations: Diverse Hematological and Clinical Features

• Published in: Hemoglobin 2013-01, Vol.37 (3), p.297-305
• Main Authors: Nainggolan, Ita M., Harahap, Alida, Ambarwati, Debby D., Liliani, Rosalina V., Megawati, Dewi, Swastika, Maria, Setianingsih, Iswari
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; alpha-Thalassemia - genetics; alpha-Thalassemia - physiopathology; Base Sequence; Child; Child, Preschool; Epistasis, Genetic; Female; Genotype; Hb Adana; Hematological features; Hemoglobins, Abnormal - genetics; Heterozygote; Homozygote; Humans; Infant; Male; Molecular Sequence Data; Multiplex Polymerase Chain Reaction; Mutation; Phenotype; Sequence Deletion; Severity of Illness Index; Short Communication; α-Thalassemia (α-thal) mutations
• ISSN: 0363-0269; 1532-432X
• DOI: 10.3109/03630269.2013.775149

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.