Kleebsabai SanpakitVip ViprakasitMahidol University2018-11-092018-11-092014-01-01Journal of Pediatric Hematology/Oncology. Vol.36, No.3 (2014)15363678107741142-s2.0-84897518205https://repository.li.mahidol.ac.th/handle/20.500.14594/34353Transfusion-dependent Hb H disease is rarely reported. In the majority of patients, it is caused mainly by α-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, ααPNP). 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. © 2014 by Lippincott Williams & Wilkins.Mahidol UniversityMedicineArticleSCOPUS10.1097/MPH.0000000000000016