title: Sickle cell anemia identified in a multiple-transfused patient through analysis of mRNA with an RT-PCR-based technique.
abstract: We report the identification of an Hb S homozygosity in a 29-year-old multiple-transfused patient with severe kidney disease using a new reverse-transcription polymerase chain reaction (RT-PCR) technique with mRNA as starting template. The procedure requires considerably less time than sequencing of genomic DNA and is recommended for use in the diagnosis of Hb S and other hemoglobinopathies.
authors.affiliation: Department of Biochemistry, Medical College of Georgia, Augusta 30912-2100, USA.
authors.forename: N S
authors.initials: NS
authors.lastname: Smetanina
authors.forename: L H
authors.initials: LH
authors.lastname: Gu
authors.lastname: Leonova JYe
authors.forename: T H
authors.initials: TH
authors.lastname: Huisman
mesh_terms: D000328:Adult; D000755:Anemia, Sickle Cell / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D001483:Base Sequence; D001803:Blood Transfusion; D015252:Deoxyribonucleases, Type II Site-Specific; D005260:Female; D005914:Globins / Q000235:genetics*; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications / Q000628:therapy*; D006451:Hemoglobin, Sickle / Q000235:genetics*; D006801:Humans; D016030:Kidney Transplantation; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D012333:RNA, Messenger / Q000235:genetics*; D006435:Renal Dialysis
chemical_list: D006451:Hemoglobin, Sickle; D012333:RNA, Messenger; D005914:Globins; C034726:endodeoxyribonuclease MstII; D015252:Deoxyribonucleases, Type II Site-Specific