title: Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation.
abstract: We report a novel mutation at codon 24 of the α2-globin gene (HBA2: c.75T > A) found in a Sundanese family. This novel mutation was detected during prenatal diagnosis. The couple already had a 7-year-old boy who exhibited clinically severe α-thalassemia intermedia (α-TI), and he was found to be a compound heterozygote for the novel mutation at codon 24 and the previously described Hb Adana (HBA2: c.179G > A) at codon 59 of the α2-globin gene. The father was a carrier of the novel point mutation and showed normal hemoglobin (Hb) and a low mean corpuscular volume (MCV) and mean corpuscular Hb (MCH) value.
authors.affiliation: The Eijkman Institute for Molecular Biology , Jakarta , Indonesia .
authors.forename: Dewi
authors.initials: D
authors.lastname: Megawati
authors.forename: Ita M
authors.initials: IM
authors.lastname: Nainggolan
authors.forename: Maria
authors.initials: M
authors.lastname: Swastika
authors.forename: Susi
authors.initials: S
authors.lastname: Susanah
authors.forename: Johanes C
authors.initials: JC
authors.lastname: Mose
authors.forename: Alida R
authors.initials: AR
authors.lastname: Harahap
authors.forename: Iswari
authors.initials: I
authors.lastname: Setianingsih
mesh_terms: D000328:Adult; D001483:Base Sequence; D002648:Child; D003062:Codon / Q000235:genetics*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D006443:Hemoglobin A2 / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007214:Indonesia; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D011247:Pregnancy; D011296:Prenatal Diagnosis; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*; D017086:beta-Thalassemia / Q000175:diagnosis / Q000235:genetics*
chemical_list: D003062:Codon; D006455:Hemoglobins, Abnormal; C083925:hemoglobin Adana; D006443:Hemoglobin A2