Genetic modifiers of long‐term survival in sickle cell anemia
نویسندگان
چکیده
منابع مشابه
Genetic modifiers of sickle cell disease.
Sickle cell disease is one of the best characterized human monogenic disorders. Complex genotype/phenotype correlations clearly demonstrate the interaction of multiple genetic and environmental factors. In the last 20 years, scientific research has applied genetic approaches to dissect some of these modifiers. This review highlights the more recent genetic association studies that have been app...
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Background: Hemoglobin S arises is the result of a point mutation (A-T) in the sixth codon on the -globin gene on chromosome 11 causing sickle cell anemia. The presence of fetal hemoglobin in infancy plays a relatively protective role for vaso-occlusive symptoms that are the major contributor for the morbidity and mortality among patients with sickle cell anemia. hydroxyurea, an s-phase-specif...
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Discovery and validation of genetic variants that influence disease severity in children with sickle cell anemia (SCA) could lead to early identification of high-risk patients, better screening strategies, and intervention with targeted and preventive therapy. We hypothesized that newly identified genetic risk factors for the general African American population could also impact laboratory biom...
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Cyanate prevents sickling in vitro and apparently prolongs the survival of 51Cr-tagged sickle erythrocytes in vivo. Cautious interpretation is required because the effects of cyanate on 51Cr binding to sickle and fetal hemoglobincontaining red cells are unknown, and comparison of the effect of cyanate on sickle red cell survival to control red cell survival must be performed sequentially. We ha...
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ژورنال
عنوان ژورنال: Clinical and Translational Medicine
سال: 2020
ISSN: 2001-1326,2001-1326
DOI: 10.1002/ctm2.152