title: The first report of a homozygous codons 9/10 (+T) β-thalassemia mutation in a Turkish patient.
abstract: For the first time in Turkey, we report a thalassemic patient with a homozygous codons 9/10 (+T) genotype. Currently, the patient is 3 years and 2 months old and received an initial transfusion at the age of 18 months. After being alloimmunized following this transfusion, he required frequent transfusions, every week to every other week. Although alloimmunization was controlled after methyl-prednisolone, intravenous immunoglobulin, plasmapheresis and rituximab, the transfusion requirements continued related to hypersplenism. Subsequent to splenectomy, transfusion requirements disappeared with average hemoglobin (Hb) levels around 11.0 g/dL. The mother underwent prenatal diagnosis (PND) when she became pregnant for the third time; this revealed a heterozygous codons 9/10 fetus.
authors.affiliation: Division of Pediatric Hematology, Hacettepe University , Ankara , Turkey.
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: David H K
authors.initials: DH
authors.lastname: Chui
authors.forename: Hong-Yuan
authors.initials: HY
authors.lastname: Luo
authors.forename: Hamza
authors.initials: H
authors.lastname: Okur
authors.forename: Yesim
authors.initials: Y
authors.lastname: Oymak
authors.forename: Fatma
authors.initials: F
authors.lastname: Gumruk
mesh_terms: D001483:Base Sequence; D001803:Blood Transfusion; D002675:Child, Preschool; D003062:Codon; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D011247:Pregnancy; D013156:Splenectomy; D014421:Turkey; D055544:beta-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000097:blood / Q000235:genetics* / Q000628:therapy
chemical_list: D003062:Codon; D055544:beta-Globins
keywords: codons 9/10 (+T); homozygous; thalassemia; β-Globin