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Titolo:
Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia
Autore:
Nagel, RL; Steinberg, MH;
Indirizzi:
Yeshiva Univ Albert Einstein Coll Med, Div Hematol, Ctr Comprehens Sickle Cell, Bronx, NY 10461 USA Yeshiva Univ Albert Einstein Coll Med Bronx NY USA 10461 nx, NY 10461 USA Boston Univ, Med Ctr, Boston, MA USA Boston Univ Boston MA USABoston Univ, Med Ctr, Boston, MA USA
Titolo Testata:
PEDIATRIC PATHOLOGY & MOLECULAR MEDICINE
fascicolo: 2, volume: 20, anno: 2001,
pagine: 123 - 136
SICI:
1522-7952(200103/04)20:2<123:ROE(GI>2.0.ZU;2-9
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-THALASSEMIA; FETAL HEMOGLOBIN; GLUCOSE-6-PHOSPHATE-DEHYDROGENASE DEFICIENCY; METHYLENETETRAHYDROFOLATE REDUCTASE; CLUSTER HAPLOTYPES; RISK-FACTORS; F-CELLS; DISEASE; MORTALITY; SURVIVAL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
44
Recensione:
Indirizzi per estratti:
Indirizzo: Nagel, RL Yeshiva Univ Albert Einstein Coll Med, Div Hematol, Ctr Comprehens Sickle Cell, 1300 Morris Pk Ave, Bronx, NY 10461 USA Yeshiva Univ AlbertEinstein Coll Med 1300 Morris Pk Ave Bronx NY USA 10461
Citazione:
R.L. Nagel e M.H. Steinberg, "Role of epistatic (modifier) genes in the modulation of the phenotypic diversity of sickle cell anemia", PEDIAT PATH, 20(2), 2001, pp. 123-136

Abstract

Sickle hemoglobin is the product of one mutated gene, but the disease phenotype is the product of many genes. Polymorphism among the genes responsible for the pleotropic effects can be epistatic (or modifier) genes contributing to interindividual variation that characterizes sickle cell anemia patients. Modulation in the hemoglobin F levels is associated with the beta -globin gene cluster haplotypes and to gender and chromosomal sites different from chromosome 11 influencing the severity of the disease. Coexistence of alpha thalassemia with sickle cell disease produces hematologic and clinical consequences that are beneficial in some complications but deleterious inothers. There is little if any modulation of the phenotype of sickle cell anemia by coexistance of G6PD deficiency. Mutations that favor blood coagulation or thrombosis may influence the phenotype of the disease. Improved understanding of the influence of genes involved in modulating the complex pathophysiology of sickle cell disease may allow prediction of the phenotype of sickle cell patients and aid in management decisions.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 23/01/20 alle ore 18:23:09