Differential diagnosis of Hb EE and Hb E-beta(0)-thalassemia by protein and DNA analyses.
DNA analysis was used to confirm the Hb EE genotype and to differentiate from the possible genotype of Hb E-beta(0)-thalassemia in two Malay patients. The first patient was a 13-year-old Malay girl, whose parents were available for family studies. The second patient was a 69-year-old Malay woman with no living family members. The presence of Hb E in both propositi was confirmed by: (1) its characteristic electrophoretic mobilities on alkaline/acid gels; (2) its chromatographic properties on anion/cation exchangers, and (3) its mildly insoluble properties. However, differential diagnosis of Hb EE and Hb E-beta(0)-thalassemia was challenging in these two cases. In the former, this was because of the possible interactions of the parents' phenotypes; i.e., the mother had a similar phenotype. In the latter, it was due to the lack of any living family members for family studies. In this communication, we present the protein and DNA analyses, including data on the use of the restriction enzyme Mnl I, for the definitive diagnosis of the Hb EE genotype in the propositi of these two Malay families.
Wong
S C
SC
Department of Laboratory Medicine, National University Hospital, Singapore. WongSC@nuh.com.sg
Aw
T C
TC
Suri
R
R
Wong
C K
CK
Plaseska
D
D
Efremov
G D
GD
D000293:Adolescent; D000368:Aged; D000747:Anemia, Hypochromic / Q000175:diagnosis* / Q000235:genetics; D001797:Blood Protein Electrophoresis; D006332:Cardiomegaly / Q000150:complications; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D015252:Deoxyribonucleases, Type II Site-Specific; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005598:Fractures, Spontaneous / Q000209:etiology; D005838:Genotype; D005914:Globins / Q000235:genetics* / Q000302:isolation & purification; D006446:Hemoglobin E / Q000235:genetics* / Q000302:isolation & purification; D006456:Hemoglobinuria / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D015663:Osteoporosis, Postmenopausal / Q000150:complications; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D016103:Spinal Fractures / Q000209:etiology; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000235:genetics
D003062:Codon; D005914:Globins; D006446:Hemoglobin E; C052155:endodeoxyribonuclease MnlI; D015252:Deoxyribonucleases, Type II Site-Specific