Publication:
Variable genotype-phenotype correlations in patients with a rare nondeletional α-thalassemia; Hb Pak Num Po (HBA1: C.396-397insT)

Issued Date

2014-01-01

Resource Type

Article

ISSN

15363678
10774114

DOI

10.1097/MPH.0000000000000016

Other identifier(s)

2-s2.0-84897518205

Rights

Mahidol University

Rights Holder(s)

SCOPUS

Bibliographic Citation

Journal of Pediatric Hematology/Oncology. Vol.36, No.3 (2014)

Suggested Citation

Kleebsabai Sanpakit, Vip Viprakasit Variable genotype-phenotype correlations in patients with a rare nondeletional α-thalassemia; Hb Pak Num Po (HBA1: C.396-397insT). Journal of Pediatric Hematology/Oncology. Vol.36, No.3 (2014). doi:10.1097/MPH.0000000000000016 Retrieved from: https://repository.li.mahidol.ac.th/handle/20.500.14594/34353

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Title

Variable genotype-phenotype correlations in patients with a rare nondeletional α-thalassemia; Hb Pak Num Po (HBA1: C.396-397insT)

Author(s)

Kleebsabai Sanpakit
 Vip Viprakasit

Other Contributor(s)

Mahidol University

Abstract

Transfusion-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.

Keyword(s)

Medicine

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https://repository.li.mahidol.ac.th/handle/20.500.14594/34353

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