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Titolo:
Hb Nijkerk: a new mutation at codons 138/139 of the beta-globin gene inducing severe hemolytic anemia in a Dutch girl
Autore:
van den Berg, HM; Bruin, MCA; Batelaan, D; van Delft, P; van Zwieten, R; Roos, D; Harteveld, CL; Bernini, LF; Giordano, PC;
Indirizzi:
Leidenathies Med Ctr, MGC Dept Human Genet, Sect Biochem Genet,Hemoglobinop Leiden Univ Leiden Netherlands NL-2333 AL ect Biochem Genet,Hemoglobinop Wilhelmina Childrens Hosp, NL-3501 CA Utrecht, Netherlands Wilhelmina Childrens Hosp Utrecht Netherlands NL-3501 CA ht, Netherlands Acad Hosp Utrecht, Van Creveld Clin, NL-3508 GA Utrecht, Netherlands Acad Hosp Utrecht Utrecht Netherlands NL-3508 GA GA Utrecht, Netherlands Dutchtherlandss Blood Transfus Serv CLB, Cent Lab, NL-1066 CX Amsterdam, Ne Dutch Red Cross Blood Transfus Serv CLB Amsterdam Netherlands NL-1066 CX
Titolo Testata:
HEMOGLOBIN
fascicolo: 2, volume: 23, anno: 1999,
pagine: 135 - 144
SICI:
0363-0269(199905)23:2<135:HNANMA>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
DNA; THALASSEMIA; CELLS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Giordano, PC Leidenathies Med Ctr, MGC Dept Human Genet, Sect Biochem Genet,Hemoglobinop Leiden Univ Wassenaarseweg 72 Leiden Netherlands NL-2333 AL
Citazione:
H.M. van den Berg et al., "Hb Nijkerk: a new mutation at codons 138/139 of the beta-globin gene inducing severe hemolytic anemia in a Dutch girl", HEMOGLOBIN, 23(2), 1999, pp. 135-144

Abstract

We describe a new structural mutant of the beta-globin chain in a 17-year-old Dutch Caucasian girl, The mutant is associated with a severe pathology as a consequence of hyper-instability of the hemoglobin tetramer, The proband, whose parents had no history of hemolysis, was admitted to the hospitalat 5 months of age with hemolytic anemia and splenomegaly. No indications for autoimmune defects or enzymopathies were found. Repeated hemoglobin electrophoresis on cellulose acetate revealed no abnormalities. At the age of 17 years, a minor abnormal band of less than 1% was detected on starch gel electrophoresis, migrating slightly faster than Hb A(2). Sequencing of the beta-globin gene revealed heterozygosity for a 4 bp deletion (GCTA) in combination with a 1 bp insertion (T) at codons 138/139. This event eliminates two amino acids (Ala-Asn) and introduces a new residue(Tyr). We discuss thehematological and the pathophysiological consequences of this mutant, which is fully expressed as a gene product, and apparently assembled into unstable tetramers that precipitate shortly after.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 21/09/20 alle ore 06:27:35