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.
Viprakasit
Vip
V
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
Tanphaichitr
Voravarn S
VS
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