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Autosomal recessive sickle cell gene

Marisa Silva, Sofia Vargas, Andreia Coelho, Alexandra Dias, Teresa Ferreira, Anabela Morais, Raquel Maia, Paula Kjöllerström, João Lavinha, Paula Faustino
Sickle cell anemia (SCA) is an autosomal recessive disease caused by the HBB:c.20A>T mutation that leads to hemoglobin S synthesis. The disease presents with high clinical heterogeneity characterized by chronic hemolysis, recurrent episodes of vaso-oclusion and infection. This work aimed to characterize by in silico studies some genetic modulators of severe hemolysis and stroke risk in children with SCA, and understand their consequences at the hemorheological level.Association studies were performed between hemolysis biomarkers as well as the degree of cerebral vasculopathy and the inheritance of several polymorphic regions in genes related with vascular cell adhesion and vascular tonus in pediatric SCA patients...
2016: Clinical Hemorheology and Microcirculation
Viara Shoumnalieva-Ivanova, Ivan Tanev, Yani Zdravkov, Simeon Monov, Russka Shumnalieva
Aagenaes syndrome, also called lymphoedema cholestasis syndrome 1 (LSC1), is characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age and severe chronic lymphoedema, mainly affecting the lower extremities. The condition is autosomal recessively inherited, and the gene is located on chromosome 15q. The locus, LCS1, was mapped to a 6.6 cM region on chromosome 15. Angioid streaks are visible irregular crack-like dehiscences in bruch's membrane that are associated with atrophic degeneration of the overlying retinal pigment epithelium...
September 10, 2016: International Ophthalmology
Talitha I Verhoef, Melissa Hill, Suzanne Drury, Sarah Mason, Lucy Jenkins, Stephen Morris, Lyn S Chitty
OBJECTIVE: Evaluate the costs of offering non-invasive prenatal diagnosis (NIPD) for single gene disorders compared to traditional invasive testing to inform NIPD implementation into clinical practice. METHOD: Total costs of diagnosis using NIPD or invasive testing pathways were compared for a representative set of single gene disorders. RESULTS: For autosomal dominant conditions, where NIPD molecular techniques are straightforward, NIPD cost £314 less than invasive testing...
July 2016: Prenatal Diagnosis
Yunus Kasım Terzi, Tuğçe Bulakbaşı Balcı, Can Boğa, Zafer Koç, Zerrin Yılmaz Çelik, Hakan Özdoğu, Sema Karakuş, Feride İffet Şahin
OBJECTIVE: Hemochromatosis is an autosomal recessive disease that is one of the most important reasons for iron overload. Sickle cell disease is a hemoglobinopathy that occurs as a result of a homozygous mutation in the hemoglobin gene. Erythrocyte transfusion is frequently used in the treatment of this disease. Iron overload as a result of transfusion is important in the mortality and morbidity of sickle cell anemia patients as well as in other hemoglobinopathies. In this study, the effect of hemochromatosis gene (HFE) p...
December 1, 2016: Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology
Wissam A Alwazani, Rawabi Zahid, Aisha Elaimi, Osamah Bajouh, Salwa Hindawi, Badr Arab, Ghazi Damanhouri, Mohamad Yassin Saka, Rola Turki, Jalaluddin A Khan, Ashraf Dallol, Adel M Abuzenadah
AIMS: Sickle-cell anemia and β-thalassemia are two of the most common autosomal recessive disorders in the developing world. The severity of the problem and the pressure it exerts on the health services in the Kingdom of Saudi Arabia forced the introduction of a national premarital screening program to lessen its impact on the society. Furthermore, a significant effort has been exerted in the elucidation of the genetic causes of such diseases to facilitate diagnosis and detection of carriers...
March 2016: Genetic Testing and Molecular Biomarkers
Karin P Potoka, Mark T Gladwin
Sickle cell disease (SCD) is an autosomal recessive disorder in the gene encoding the β-chain of hemoglobin. Deoxygenation causes the mutant hemoglobin S to polymerize, resulting in rigid, adherent red blood cells that are entrapped in the microcirculation and hemolyze. Cardinal features include severe painful crises and episodic acute lung injury, called acute chest syndrome. This population, with age, develops chronic organ injury, such as chronic kidney disease and pulmonary hypertension. A major risk factor for developing chronic organ injury is hemolytic anemia, which releases red blood cell contents into the circulation...
February 15, 2015: American Journal of Physiology. Lung Cellular and Molecular Physiology
Heather Skirton, Lesley Goldsmith, Lyn S Chitty
Prenatal testing based on cell-free fetal DNA in maternal serum is now possible for specific monogenic conditions, and studies have shown that the use of non-invasive testing is supported by prospective parents and health professionals. However, some ethical issues have been raised concerning informed consent and paternal rights. The objective of this study was to explore ethical aspects of the use of non-invasive prenatal diagnostic testing for autosomal recessive disorders. We used a qualitative cross-sectional design, based on Thematic Analysis, and recruited 27 individuals of reproductive age who were carriers of one of four conditions: thalassaemia, sickle cell disease, cystic fibrosis or spinal muscular atrophy...
August 2015: European Journal of Human Genetics: EJHG
Abiola Olowoyeye, Charles I Okwundu
BACKGROUND: Sickle cell disease encompasses a group of genetic disorders characterized by the presence of at least one hemoglobin S (Hb S) allele, and a second abnormal allele that could allow abnormal hemoglobin polymerisation leading to a symptomatic disorder.Autosomal recessive disorders (such as sickle cell disease) are good candidates for gene therapy because a normal phenotype can be restored in diseased cells with only a single normal copy of the mutant gene. OBJECTIVES: The objectives of this review are:- to determine whether gene therapy can improve survival and prevent symptoms and complications associated with sickle cell disease;- to examine the risks of gene therapy against the potential long-term gain for people with sickle cell disease...
October 10, 2014: Cochrane Database of Systematic Reviews
S M Hassan, R H A M Vossen, R Chessa, J T den Dunnen, E Bakker, P C Giordano, C L Harteveld
Hemoglobinopathies, such as sickle cell disease (SCD) and beta-thalassemia major (TM), are severe diseases and the most common autosomal recessive condition worldwide and in particular in Oman. Early screening and diagnosis of carriers are the key for primary prevention. Once a country-wide population screening program is mandated by law, a sequencing technology that can rapidly confirm or identify disease-causing mutations for a large number of patients in a short period of time will be necessary. While Sanger sequencing is the standard protocol for molecular diagnosis, next generation sequencing starts to become available to reference laboratories...
September 2014: Blood Cells, Molecules & Diseases
Christopher J Bean, W Craig Hooper, Dorothy Ellingsen, Michael R DeBaun, Jennifer Sonderman, William J Blot
BACKGROUND: Sickle cell disease (SCD) is an autosomal recessive genetic disorder, with persons heterozygous for the mutation said to have the sickle cell trait (SCT). Serious adverse effects are mainly limited to those with SCD, but the distinction between disease and trait is not always clear to the general population. We sought to determine the accuracy of self-reported SCD when compared to genetic confirmation. METHODS: From stratified random samples of Southern Community Cohort Study participants, we sequenced the β- globin gene in 51 individuals reporting SCD and 75 individuals reporting no SCD...
2014: Public Health Genomics
Andreia Coelho, Alexandra Dias, Anabela Morais, Baltazar Nunes, Emanuel Ferreira, Isabel Picanço, Paula Faustino, João Lavinha
Chronic haemolysis stands out as one of the hallmarks of sickle cell anaemia, a clinically heterogeneous autosomal recessive monogenic anaemia. However, the genetic architecture of this sub-phenotype is still poorly understood. Here, we report the results of an association study between haemolysis biomarkers (serum LDH, total bilirubin and reticulocyte count) and the inheritance of 41 genetic variants of ten candidate genes in a series of 99 paediatric SS patients (median current age of 9.9 yr) followed up in two general hospitals in Greater Lisboa area (median follow-up per patient of 5...
March 2014: European Journal of Haematology
D B Sanders, B P Smith, S R Sowell, D H Nguyen, C Derby, F Eshun, J J Nigro
Sickle cell anemia and thalassemia are hemoglobinopathies rarely encountered in the United States. Compounded with congenital heart disease, patients with sickle cell disease (SCD) requiring cardiopulmonary bypass and open-heart surgery represent the proverbial "needle in the haystack". As such, there is some trepidation on the part of clinicians when these patients present for complex cardiac surgery. SCD is an autosomal, recessive condition that results from a single nucleotide polymorphism in the β-globin gene...
March 2014: Perfusion
Khalil Hamzi, Afaf Ben Itto, Zineb Jouhadi, Ilham Slassi, Sellama Nadifi
The sickle-cell disease is a group of chronic hemolytic diseases which associates three types of injuries: severe anemia, severe infections, and ischemic vaso-occlusive crisis that are secondary to conflicts between small vessels and red blood cells too deformable. Thus, organic various complications may arise. Its prevalence in Europe is estimated to be about 1/150 and reaches 15 % in the Mediterranean areas. Clinical manifestations vary widely from one person to another and from one moment to another. In addition to anemia and bacterial infections, vaso-occlusive crisis may manifest by focal ischemia...
June 2013: Journal of Molecular Neuroscience: MN
Abiola Olowoyeye, Charles I Okwundu
BACKGROUND: Sickle cell disease encompasses a group of genetic disorders characterized by the presence of at least one hemoglobin S (Hb S) allele, and a second abnormal allele that could allow abnormal hemoglobin polymerisation leading to a symptomatic disorder.Autosomal recessive disorders (such as sickle cell disease) are good candidates for gene therapy because a normal phenotype can be restored in diseased cells with only a single normal copy of the mutant gene. OBJECTIVES: The objectives of this review are:- to determine whether gene therapy can improve survival and prevent symptoms and complications associated with sickle cell disease;- to examine the risks of gene therapy against the potential long-term gain for people with sickle cell disease...
2012: Cochrane Database of Systematic Reviews
S Haghpanah, S Nasirabadi, M Kianmehr, A Afrasiabi, M Karimi
Sickle cell disease (SCD) is an inherited autosomal recessive disorder. We aimed to describe the spectrum of haplotyes of BS-gene and to investigate a relationship with disease phenotype in patients with SCD in Southern Iran. We didn't find any significant association between BS-globin gene haplotypes and clinical severity of the disease in an Iranian population. The exact mechanism by which the BS-globin gene polymorphism affects clinical presentation is not obvious; however, further detailed studies at the molecular level, with a larger sample size are required to show the mechanisms that influence the clinical presentation of SCD in Iranian population...
July 2012: Genetika
Hurmina Muqtadar, Fernando D Testai
Single gene stroke disorders are rare but important to consider in the differential diagnosis of cryptogenic stroke. The identification of these disorders has a significant prognostic value and may be instrumental in the development of an appropriate stroke prevention plan. In this review we summarize the clinical features, diagnosis, and treatment of the following single gene disorders: cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL); cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL); Fabry disease; sickle cell disease; and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)...
June 2012: Current Treatment Options in Cardiovascular Medicine
N O C Onyemaechi, U N Enweani, C O Maduka
BACKGROUND: Sickle cell disease (SCD) is one of the most important haemoglobinopathies. It is an autosomal recessive genetic condition in which a defective form of haemoglobin, haemoglobin S (HbS) results from a single amino acid substitution. The amino acid valine replaces glutamic acid at position 6 in the beta globin gene. Musculoskeletal complications are often observed in the evolution of this disease and are common causes of morbidity and disability in these patients. The objective of this study is to describe the pattern and presentation of musculoskeletal complications in sickle cell disease at the National Orthopaedic Hospital Enugu Nigeria...
October 2011: Nigerian Journal of Medicine: Journal of the National Association of Resident Doctors of Nigeria
J Freed, J Talano, T Small, A Ricci, M S Cairo
Sickle cell disease (SCD) is an autosomal recessive inherited hematological disorder characterized by chronic hemolysis and vaso-occlusion, resulting in multiorgan dysfunction and premature death. The only known curative therapy for patients with severe SCD is myeloablative conditioning and allo-SCT from HLA-matched sibling donors. In this state of the art review, we discuss current and future considerations including patient selection/eligibility, intensity of conditioning regimens, allogeneic graft sources, graft manipulation, mixed donor chimerism, organ function and stability and autologous gene correction stem cell strategies...
December 2012: Bone Marrow Transplantation
R Peces, C Peces, E Cuesta-López, C Vega-Cabrera, S Azorín, V Pérez-Dueñas, R Selgas
BACKGROUND: Macroscopic haematuria secondary to renal cyst rupture is a frequent complication in autosomal dominant polycystic kidney disease (ADPKD). Sickle-cell disease is an autosomal recessive haemoglobinopathy that involves a qualitative anomaly of haemoglobin due to substitution of valine for the glutamic acid in the sixth position of 3-globin gene on the short arm of chromosome 11. For the full disease to be manifested, this mutation must be present on both inherited alleles. The severity of the disease is proportional to the quantity of haemoglobin S (Hb S) in the red cells; sickle-cell trait (Hb S <50%) and homozygous sickle-cell disease (Hb S >75%)...
2011: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
Angela Siciliano, Giorgio Malpeli, Orah S Platt, Christophe Lebouef, Anne Janin, Aldo Scarpa, Oliviero Olivieri, Eliana Amato, Roberto Corrocher, Yves Beuzard, Lucia De Franceschi
BACKGROUND: Sickle cell disease, a genetic red cell disorder inherited in an autosomal recessive manner, occurs throughout the world. Hepatic dysfunction and liver damage may be present in sickle cell disease, but the pathogenesis of these conditions is only partially understood. DESIGN AND METHODS: Transgenic mice with sickle cell disease (SAD mice) and wild-type mice were exposed to an ischemic/reperfusion stress. The following parameters were evaluated: hematologic profile, transaminase and bilirubin levels, liver histopathology, and mRNA levels of nuclear factor-κB p65, endothelial nitric oxide synthase, inducible nitric oxide synthase, heme oxygenase-1 and phosphodiesterase-1, -2, -3, and -4 genes in hepatocytes obtained by laser-capture microdissection...
January 2011: Haematologica
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