Hb G-Philadelphia or Stanleyville II? When the phenotype and genotype do not agree
Author:
Publisher
Wiley
Subject
Hematology,General Medicine
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1600-0609.2007.00879.x/fullpdf
Reference7 articles.
1. HPLC Retention Time as a Diagnostic Tool for Hemoglobin Variants and Hemoglobinopathies: A Study of 60000 Samples in a Clinical Diagnostic Laboratory
2. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions
3. The C→G transition in the α2-globin gene of a normal αα-chromosome is responsible for the Hb G-Philadelphia variant in Sardinians
4. Proportion of hemoglobin G Philadelphia (alpha 268 Asn leads to Lys beta 2) in heterozygotes is determined by alpha-globin gene deletions.
5. Haemoglobin Stanleyville II ( 78 Asparagine->Lysine)
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4. Hb Stanleyville-II [α78(EF7)Asn→Lys (α2); HbA2: c.237C>A]: Incidence of 1:11,500 in a Newborn Screening Program in Brazil;Hemoglobin;2012-05-24
5. Homozygous Hb Stanleyville-II [alpha2 78(EF7) Asn>Lys; HBA2:c.237C>A, not C>G] associated with genotype −α3.7/−α3.7 in two Brazilian families;International Journal of Laboratory Hematology;2011-04-07
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