Articles Related to Sickle cell disease
Factors Influencing Adherence to Hydroxyurea Treatment Among Children with Sickle Cell Disease at the Mother and Child Center of the Chantal Biya Foundation
Introduction: Sickle cell disease (SCD) is a genetic hemoglobin disease for which there are many treatment options. Evidence supports the efficacy and cost-effectiveness of hydroxyurea (HU). Nevertheless, its use and adherence to treatment remain suboptimal, hence, the necessity to assess the factors influencing this observance.
Objectives: The objective was to evaluate the factors influencing observance to HU in children with sickle cell disease from the Mother and Child Center of the Chantal Biya Foundation (MCC of the CBF).
Materials and Methods: This was a descriptive and analytical cross-sectional study from January to June 2020. Children on HU for at least six months, and followed up at MCC of the CBF were included. Data collection was done using a pre-tested questionnaire. The level of compliance was assessed using the Morisky’s observance grid, where 8 points was considered as “good”; 6-7 points as “fair”, and <6 as “poor”. Data were stored in CSPro version 7.0 software, and subsequently analyzed using the SPSS version 20.0 software.
Results: Of 142 patients recruited, the level of patient observance was considered “good” in 2.1%, fair in 26.1% and poor in 71.8%. Logistic regression analyses suggested that using hydroxyurea to prevent complications was the only factor that favored good medical adherence [OR=0.37; CI (0.14-0.987)] (p=0.047). Poor compliance was mainly associated with the fear of infertility and and other sides effects associated with the use of HU.
Conclusion: Children with SCD in this study have poor compliance with HU. Implementing IEC sessions would make it possible to raise patient/parent awareness and reverse this trend.
Spine Osteonecrosis Related to Sickle Cell Disease
Analyze the clinical profile of the spine with osteonecrosis in sickle cell disease. 610 patients were followed-up in this study between 2000 and 2017. 98 osteonecrosis were identified, 48 in the lumbar spine, 40 in the thoracic spine and 10 in both spine segments. We analyzed sex, age, genotype, and pain. Magnetic resonances and radiographs of the spine were performed.
Gene Therapy in Sickle Cell Disease
Sickle cell disease is a prevalent and severe monogenic disorder resulting from a homozygous missense mutation in the β-globin gene that leads to polymerization of hemoglobin S. Clinical manifestations of the disease can be critical with considerable morbidity and mortality. One treatment option for the disease is bone marrow transplantation. However this method is restricted to the patients with an appropriately matched donor. Gene therapy by either gene insertion or gene editing, utilizing patient’s own cell is a primary
therapeutic option to cure sickle cell disease. However, very less clinical trials have been performed with genetic therapy for treating Sickle cell disease (SCD). Since a couple of decades significant progress has been made in the area of gene therapy for treating monogenic hemoglobin disorders. Numerous therapies are currently in clinical trial stages or in preclinical stages. The safety and efficacy of gene therapy has been greatly improved with the initial use of γ-retrovirus vectors, followed by next-generation lentivirus vectors, and latest gene editing techniques. Although the clinical interpretation of gene therapy has been successful, it involves some limitations including complex cellular abnormalities, inadequate transgene expression, and challenges in achieving effective and persistent inhibition of polymerization of hemoglobin S. This review intends to discuss gene therapy strategies specific to Sickle cell disease, present state of the field, and current status of the gene therapy clinical trials.
Osteo-Articular Complications in a Pediatric Sickle Cell Disease Population - Imaging Value
Sickle cell disease (SCD) is the most frequent of a group of conditions known as haemoglobinopathies. The disease is an autosomal recessive genetic disorder, characterized by abnormal haemoglobin (Hemoglobin S) that under certain conditions polymerizes resulting in microvascular occlusions. This pictorial review illustrates the osteo-articular manifestations associated with sickle-cell disease encountered in children in our institution with at least one Haematology appointment in 2013/2014. Osteo-articular manifestations with imaging findings were reported in 28 out of 97 patients. The most frequent complications and those that required hospital care were painful vaso-occlusive crisis and femoral head osteomyelitis.
A One-Year Hospital Based Prospective Study of Sickle Cell Disease from One Capital Area of Kuwait by HPLC
Haemoglobinopathies are inherited disorders of haemoglobin synthesis that are responsible for significant morbidity and mortality all over the world.
Effects of Age and Sex on Sickle Cell Disease Avascular Necrosis
Sickle cell disease (SCD) is a hemoglobinopathy. Based on genotypes, it is classified into sickle cell thalassemia (SCTh) and sickle cell anemia (SCA).
Dental Alterations in Sickle Cell Disease
Sickle cell disease is a congenital blood disorder. The abnormal hemoglobin causes microinfarcts that lead to multi-organ alterations, including dental involvement. The entire oral and maxillofacial region may be involved, affecting the teeth, multiple oral structures, and maxillofacial bones.