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Phenotypic and molecular diversity of haemoglobin H disease: a Greek experience

✍ Scribed by Emmanuel Kanavakis; Ioannis Papassotiriou; Markissia Karagiorga; Christina Vrettou; Anna Metaxotou-Mavrommati; Alexandra Stamoulakatou; Christos Kattamis; Joanne Traeger-Synodinos

Book ID
108672437
Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
323 KB
Volume
111
Category
Article
ISSN
0007-1048

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✍ Flora H. Fodor; Christine M. Eng πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 133 KB πŸ‘ 2 views

The most common Hb D variant, Haemoglobin D (Hb D) Los Angeles is caused by a glutamic acid to glutamine substitution at codon 121 of the globin gene. Although asymptomatic in the heterozygous form, inheritance together with an Hb S allele can result in a severe disease similar to sickle-cell anaemi