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...
متن کاملIntracardiac Thrombosis in Sickle Cell Disease
In patients with sickle cell disease, thrombotic microangiopathy is a rare complication. Also in sickle cell disease, intracardiac thrombus formation without structural heart diseases or atrial arrhythmias is a rare phenomenon. We herein describe a 22-year-old woman, who was a known case of sickle cell-βthalassemia, had a history of recent missed abortion, and was admitted with a vaso-occlusive...
متن کاملExtensive admixture in Brazilian sickle cell patients: implications for the mapping of genetic modifiers.
This study was developed after approval by the Ethical Committees from the Universidade Federal de Minas Gerais and the Hemominas Foundation. We estimated admixture in unrelated subjects with sickle cell disease (SCD, n = 200) and healthy blood donors (n = 291), sampled across different regions of the state of Minas Gerais (Figure S1), a geographic area in South Eastern Brazil similar to that o...
متن کاملNeonatal Screening for Sickle Cell Disease in Southwest Iran
the risk of sickle cell complications that is a common hemoglobin disorder in Southwest Iran. This study aimed at determining the incidence of Sickle Cell Disease (SCD) and other Hemoglobinopathies in newborn being at risk based on ethnic origin. Materials and Methods: In this descriptive epidemiologic study, between September 2013 and September 2015, 8363 newborn blood samples were test...
متن کاملSickle Cell Disease and Sickle Cell Anaemia
Sickle cell haemoglobin (HbS) results from an autosomal recessively inherited mutation in which the 17th nucleotide of the beta globin gene is changed from thymine to adenine and the amino acid glutamic acid is replaced by valine at position 6 in the beta globin chain. [1, 2]Sickle cells have a reduced deformability and are easily destroyed, causing occlusion of the microcirculation and a chron...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2012
ISSN: 0361-8609
DOI: 10.1002/ajh.23232