Unusual phenotype of hemoglobin EE with hemoglobin H disease: a pitfall in clinical diagnosis and genetic counseling.
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.
Department of Pediatrics, Siriraj Thalassemia Research Program, and WHO Collaborating Center for Control of Hemoglobinopathies, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand. vip@hammer.imm.ox.ac.uk
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Voravarn S
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D000328:Adult; D002648:Child; D005260:Female; D005914:Globins / Q000235:genetics; D006446:Hemoglobin E; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013785:Thailand; D017085:alpha-Thalassemia / Q000175:diagnosis / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D005914:Globins; D006446:Hemoglobin E