Sickle cell disease in the post genomic era: a monogenic disease with a polygenic phenotype

A Driss, KO Asare, JM Hibbert, BE Gee… - Genomics …, 2009 - journals.sagepub.com
More than half a century after the discovery of the molecular basis of Sickle Cell Disease
(SCD), the causes of the phenotypic heterogeneity of the disease remain unclear. This …

[PDF][PDF] Genetic modifiers of sickle cell disease

T Pincez, AE Ashley-Koch, G Lettre, MJ Telen - … /Oncology Clinics of North …, 2022 - Elsevier
Studies of genetic variants and their associations with disease outcomes using recent
molecular technology advances and the broad variety of statistical methodologies available …

[图书][B] Schiff's Diseases of the Liver

ER Schiff, WC Maddrey, KR Reddy - 2017 - books.google.com
The most important and reliable resource for treating diseases of the liver For more than 55
years," Schiff" has been acclaimed as the most outstanding liver book in the world. This new …

Bilirubin and the genome: the hereditary basis of unconjugated neonatal hyperbilirubinemia

M Kaplan, C Hammerman - Current Pharmacogenomics, 2005 - ingentaconnect.com
Severe neonatal unconjugated hyperbilirubinemia, with the risk of bilirubin encephalopathy
or kernicterus in severe, untreated cases, occurs when bilirubin production exceeds the …

Bilirubin metabolism and jaundice

A W. Wolkoff, PD Berk - Schiff's Diseases of the Liver, 2017 - Wiley Online Library
Bilirubin is a product of heme degradation. Normally, 70‐80% derives from hemoglobin in
senescent erythrocytes. The rest reflects degradation of other hemoproteins. Unconjugated …

Xmn1‐Gγ polymorphism and clinical predictors of severity of disease in β‐thalassemia intermedia

S Oberoi, R Das, I Panigrahi, J Kaur… - Pediatric blood & …, 2011 - Wiley Online Library
Background To determine the prevalence of Xmn1‐Gγ polymorphism in North Indian
children and adolescents with β thalassemia intermedia (TI) and to correlate it with disease …

The Effect of UGT1A1 Promoter Polymorphism in the Development of Hyperbilirubinemia and Cholelithiasis in Hemoglobinopathy Patients

S AlFadhli, H Al-Jafer, M Hadi, M Al-Mutairi, R Nizam - PLoS One, 2013 - journals.plos.org
Present study was aimed to explore the effect of (TA) n UGT1A1 gene promoter
polymorphism on bilirubin metabolism, bilirubinaemia, predisposition to cholelithiasis and …

Genetic modifiers in hemoglobinopathies

D Rund, S Fucharoen - Current molecular medicine, 2008 - ingentaconnect.com
Hereditary anemias show considerable variation in their clinical presentation. In some
cases, the causes of these variations are easily apparent. In thalassemia (or in …

Early Complication in Sickle Cell Anemia Children due to A(TA)nTAA Polymorphism at the Promoter of UGT1A1 Gene

L Chaouch, E Talbi, I Moumni… - Disease …, 2013 - Wiley Online Library
Aim. To determine the implication of the polymorphism, namely, A (TA) nTAA of UGT1A1 in
lithogenesis for the first time in Tunisia among sickle cell anemia (SCA) children patients …

Coexistence of Gilbert syndrome with hereditary haemolytic anaemias

K Rawa, A Adamowicz-Salach, M Matysiak… - Journal of clinical …, 2012 - jcp.bmj.com
Background Gilbert syndrome is an inherited disease characterised by mild unconjugated
hyperbilirubinaemia caused by mutations in UGT1A1 gene which lead to decreased activity …