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  • Title: Unusual phenotype of hemoglobin EE with hemoglobin H disease: a pitfall in clinical diagnosis and genetic counseling.
    Author: Viprakasit V, Tanphaichitr VS.
    Journal: J Pediatr; 2004 Mar; 144(3):391-3. PubMed ID: 15001953.
    Abstract:
    Two unrelated individuals previously diagnosed as hemoglobin (Hb) EE were found to be, in fact, Hb EE with Hb H disease. This globin genotype normally results as Hb EF Bart disease. This unusual genotype-phenotype interaction highlights the need for molecular analysis in affected individuals with Hb E disorders before appropriate genetic counseling and genetic risk estimation in offspring can be given.
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