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


ABSTRACT: We describe 27 cases of mild-to-severe ?-thalassemia (?-thal) syndrome caused by interaction of Hb Adana [?59(E8)Gly?Asp, GGC>GAC (?2)] with deletional and nondeletional ?(+)-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 ?-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 ?-thal disorders is not only important for future management of these patients but also for providing proper genetic counseling to the family.

SUBMITTER: Nainggolan IM 

PROVIDER: S-EPMC3667679 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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

Nainggolan Ita M IM   Harahap Alida A   Ambarwati Debby D DD   Liliani Rosalina V RV   Megawati Dewi D   Swastika Maria M   Setianingsih Iswari I  

Hemoglobin 20130425 3


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 patien  ...[more]

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