title: Variable genotype-phenotype correlations in patients with a rare nondeletional α-thalassemia; Hb Pak Num Po (HBA1: c.396_397insT).
abstract: Transfusion-dependent Hb H disease is rarely reported. In the majority of patients, it is caused mainly by α(0)-thalassemia from deletions of 2 linked α-globin genes and nondeletional mutations. Previously, we had described 2 unrelated Thai patients with this condition because of compound heterozygosity of SEA-type deletion (--SEA/) and a novel nucleotide mutation: a thymine insertion at codon 131 of the α1 gene, namely, Hb Pak Num Po (Hb PNP, αα(PNP)). We herein describe the identification of 4 additional patients with Hb PNP with a broader genotype/phenotype spectrum and provide an overview of clinical management approaches including stem-cell transplantation.
authors.affiliation: Department of Pediatrics and Thalassemia Centre, Division of Hematology and Oncology, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand.
authors.forename: Kleebsabai
authors.initials: K
authors.lastname: Sanpakit
authors.forename: Vip
authors.initials: V
authors.lastname: Viprakasit
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D005838:Genotype; D006442:Glycated Hemoglobin / Q000145:classification / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011379:Prognosis; D017384:Sequence Deletion; D015996:Survival Rate; D017085:alpha-Thalassemia / Q000235:genetics* / Q000473:pathology*
chemical_list: D006442:Glycated Hemoglobin