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

Search MEDLINE/PubMed


  • Title: CODON 30 (-GAG) (α2): hematological parameters in heterozygotes and also patients with Hb H disease.
    Author: Yang Y, Li DZ.
    Journal: Hemoglobin; 2013; 37(6):599-603. PubMed ID: 23822871.
    Abstract:
    We describe five Chinese individuals carrying a codon 30 (-GAG) (α2) (HBA2: c.91_93del) mutation, including three heterozygotes and two patients with Hb H (β4) disease. The heterozygotes presented hematological parameters of microcytosis and hypochromia. The Hb H disease patients were transfusion-independent and had survived to adulthood. Screening for this nondeletional allele, and correlation of genotype with phenotype in Hb H disease is important for genetic counseling.
    [Abstract] [Full Text] [Related] [New Search]