A Novel Filtering Tool for Detecting Sickle Cell Disease in the Pediatric Population

Human migration has reached an unprecedented level. Progressive globalization has integrated people and facilitated the introduction of deleterious genes into populations in which they were originally absent, thus impacting negatively on public health. A great challenge encountered by clinicians in the era of "migration hematology" lies in the hemoglobinopathies, a group of conditions representing the commonest, life-threatening, monogenic disorders globally. Of the ±400 000 newborn children affected annually, ~65% have sickle cell disease (SCD), a disorder that has spread far beyond its origins because of slave trade and contemporary population movements. More than 70% of all global SCD cases are due to autosomal recessive homozygous inheritance of a βS-mutation (missense Glu6Val) in the HBB gene, creating sickle hemoglobin (HbS), a structural variant of adult hemoglobin (HbA) and causing the most severe form of SCD, sickle cell anemia (SCA). Other forms result from inheritance of HbS in combination with different mutations, most commonly a second structural β-globin variant, βC (S/C) or one of many that lead to decreased β-globin synthesis (S/β-thalassemia). Clinical consequences are due to polymerization of deoxygenated HbS and its deleterious effects on erythrocytes. It is a debilitating syndrome characterized by chronic hemolysis and vaso-occlusive crises, manifesting as acute painful episodes, organ infarction and eventual multi...
Source: Blood - Category: Hematology Authors: Tags: 901. Health Services Research-Non-Malignant Conditions: Poster I Source Type: research

Related Links:

AbstractSickle Cell Anemia (SCA) is one of the most common monogenic disorders worldwide. Molecular modifiers of clinical symptoms play an essential role in the amelioration of the effects of the disease. Single Nucleotide Polymorphisms (SNPs) of the BCL11A gene and within the HBS1L-MYB intergenic region, which are located outside the β-globin locus on chromosome 11, are considered to be genetic modifiers that are associated with elevated levels of foetal haemoglobin HbF, and thus they reduce the clinical impact of sickle haemoglobin, HbS. The work reported here aimed to detect the most common SNPs of BCL11A and HBS1L...
Source: Indian Journal of Hematology and Blood Transfusion - Category: Hematology Source Type: research
Source: Indian Journal of Hematology and Blood Transfusion - Category: Hematology Source Type: research
Conclusion: Our findings suggest that hydroxyurea is safe and may prevent silent stroke and stroke in sickle cell disease. More high-quality studies including RCTs are needed.
Source: Medicine - Category: Internal Medicine Tags: Research Article: Systematic Review and Meta-Analysis Source Type: research
CONCLUSIONS: Currently, there is no high-quality evidence to support or challenge the continued use of hydroxyurea for managing people with transfusion-dependent β-thalassaemia. Multicentre, randomised controlled trials (compared to placebo or other available treatment, i.e. blood transfusion and iron chelation) are needed in order to assess the efficacy and safety of hydroxyurea for reducing the need for blood transfusion, for maintaining or improving mean haemoglobin levels, as well as for determining its cost-effectiveness. PMID: 30882896 [PubMed - as supplied by publisher]
Source: Cochrane Database of Systematic Reviews - Category: General Medicine Authors: Tags: Cochrane Database Syst Rev Source Type: research
AbstractAsymmetric dimethylarginine (ADMA) level may play a role in the pathogenesis of cerebrovascular stroke in Children with Sickle Cell Anemia (SCA). To assess the plasma level of ADMA in children with SCA and its correlation to cerebral blood flow. This is a cross sectional study was carried out on 30 children with homozygous SCA under follow up in the Out Patients Clinic, Pediatric Department at Tanta University Hospital and 30 healthy children as a control group. Both groups had undergone the following investigations: Complete blood count, lactate dehydrogenase enzyme, and plasma level of ADMA by a commercial ADMA E...
Source: Indian Journal of Hematology and Blood Transfusion - Category: Hematology Source Type: research
ConclusionIn SCA children, hyperferritinemia requiring iron chelation is most strongly related to blood transfusion. This situation concerned almost one in five children in present study; this shows the magnitude of the problem which is underestimated.
Source: BMC Hematology - Category: Hematology Source Type: research
This study was conducted among 70 children with SCD and 40 age and sex-matched children as a control group. All subjects underwent a full medical history, through physical examination, laboratory investigations including blood urea, serum creatinine, serum ferritin, estimated glomerular filtration rate (eGFR) using the Schwartz formula, creatinine clearance, urinary albumin/creatinine ratio, serum cystatin-C, and β-2 microglobulin levels. Pediatric patients with SCD had significantly higher serum cystatin-C and β-2 microglobulin levels compared to controls. In addition, serum cystatin-C and β-2 microglobulin...
Source: Indian Journal of Nephrology - Category: Urology & Nephrology Authors: Source Type: research
AbstractThe prevalence of different types of hemoglobinopathies and its spectrum in Odisha state is believed to be high, but its exact prevalence is not known due to lack of large population based study. The present study was undertaken to know the magnitude and spectrum of hemoglobinopathies among the patients attending tertiary care centre for evaluation of anemia. All the patients of various age group without any history of blood transfusion preceding 3  months of period attending the Clinical Hematology Department of SCB Medical College, Cuttack for evaluation of anemia were included in this 10 year prospecti...
Source: Indian Journal of Hematology and Blood Transfusion - Category: Hematology Source Type: research
Sickle cell disease (SCD) has evolved from a life-threatening condition in early childhood to a chronic disease in adults [1,2]. Improved supportive care [3], use of hydroxyurea therapy [4], and regular blood transfusion therapy for primary [5] and secondary [6] stroke prevention have resulted in improved childhood clinical outcomes and survival. Approximately 99% of all children born with SCD are expected to live to adulthood [7,8]. The most feared complication in children with SCD is stroke [9].
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
Sickle cell disease (SCD) has evolved from a life-threatening condition in early childhood, to a chronic disease in adults [1,2]. Improved supportive care [3], use of hydroxyurea therapy [4], and regular blood transfusion therapy for primary [5] and secondary [6] stroke prevention, have resulted in improved childhood clinical outcomes and survival. Approximately 99% of all children born in high resource countries with SCD are expected to live to adulthood [7,8]. The most feared complication in children with SCD is stroke [9].
Source: Biology of Blood and Marrow Transplantation - Category: Hematology Authors: Source Type: research
More News: Anemia | Blood Transusion | Cancer & Oncology | Children | Expenditures | Genetics | Hematology | Hospitals | International Medicine & Public Health | Laboratory Medicine | Men | Pediatrics | Perinatology & Neonatology | Politics | Sickle Cell Anemia | Statistics | Study