Variable genotype-phenotype correlations in patients with a rare nondeletional α-thalassemia; Hb Pak Num Po (HBA1: c.396_397insT)

J Pediatr Hematol Oncol. 2014 Apr;36(3):e185-9. doi: 10.1097/MPH.0000000000000016.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Genotype
  • Glycated Hemoglobin / classification
  • Glycated Hemoglobin / genetics*
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Phenotype
  • Polymerase Chain Reaction
  • Prognosis
  • Sequence Deletion*
  • Survival Rate
  • alpha-Thalassemia / genetics*
  • alpha-Thalassemia / pathology*

Substances

  • Glycated Hemoglobin A