These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Coinheritance of Hb City of Hope (HBB: c.208G>A) and β-Thalassemia: Compromising the Molecular Diagnosis of the Codons 71/72 (+A) (HBB: c.216_217insA) Mutation by Reverse Dot-Blot Hybridization.
    Author: Zhou JY, Jiang F, Li J, Chen GL, Li DZ.
    Journal: Hemoglobin; 2019 Mar; 43(2):145-147. PubMed ID: 31268351.
    Abstract:
    More than 900 abnormal hemoglobin (Hb) β chain variants have now been characterized. The majority are due to point mutations resulting in a single amino acid substitution within the globin gene involved, with nearly twice as many β chain variants identified compared to α chain variants. Although most of these variants are clinically and hematologically silent, they can interact with different thalassemia mutations, which could sometimes render laboratory diagnostics in a routine setting difficult. In this study, we present a case of coinheritance of Hb City of Hope [β69(E13)Gly→Ser; HBB: c.208G>A] and β-thalassemia (β-thal), that compromises the molecular diagnosis of β-thal trait.
    [Abstract] [Full Text] [Related] [New Search]