Severity of Brazilian sickle cell disease patients: severity scores and feasibility of the Bayesian network model use

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Correlation between maxillofacial radiographic features and systemic severity as sickle cell disease severity predictor

This study was conducted to investigate the relationship among radiographic features observed on panoramic radiographs of sickle cell disease patients and analyze their relationship with history of systemic severity of the disease. Panoramic radiographs of 71 subjects with sickle cell disease were evaluated for the presence of the following radiographic bony alterations: radiopaque areas, increased spacing of bony trabeculae, horizontal arrangement of bony trabeculae and corticalization of mandibular canal. History of clinical systemic severity was assessed through direct questioning about the frequency of vaso-occlusive crisis, history of stroke, clinical jaundice, femur head necrosis, and leg ulceration. Chi-square or Fisher's exact test were applied in order to analyze possible associations between radiographic features and history of complications, with < 0.05 significance level. Increased spacing of bony trabeculae was statistically associated with absence of corticalization of mandibular canal ( < 0.01) and horizontal arrangement of bony trabeculae ( = 0.04). Statistically significant associations were demonstrated between history of clinical jaundice and presence of increased spacing of bony trabeculae ( = 0.02) and between history of stroke and presence of horizontal arrangement of bony trabeculae ( = 0.04). Based on the results of the current study, maxillofacial radiographic features may be associated with clinical parameters of systemic complications in sickle cell disease patients. The relationship between radiographic features and history of complications associated with clinical severity of sickle cell disease has not been demonstrated in the literature. Acknowledgment of such possible association may help establish prognosis and influence clinical treatment of systemic and oral complications.

Hematological differences between patients with different subtypes of sickle cell disease on hydroxyurea treatment

OBJECTIVE: Sickle cell anemia and the interaction S/Beta thalassemia differ in hematological values due to microcytosis and hypochromia caused by the thalassemic mutation. The clinical benefit of long-term hydroxyurea treatment is undeniable in sickle cell disease with monitoring of the biological action of the drug being by the complete blood count. The objective of this work is to compare changes in some of the erythrocytic indexes between S/Beta thalassemia and sickle cell anemia patients on long-term hydroxyurea treatment. METHODS: The values of erythrocyte indexes (mean corpuscular volume and mean corpuscular hemoglobin) were compared in a retrospective study of two groups of patients (Sickle cell anemia and S/Beta thalassemia) on hydroxyurea treatment over a mean of six years. RESULTS: The quantitative values of the two parameters differed between the groups. Increases in mean corpuscular volume and reductions in mean corpuscular hemoglobin delay longer in S/Beta thalassemia patients (p-value = 0.018). CONCLUSION: Hematological changes are some of the beneficial effects of hydroxyurea in sickle cell disease as cellular hydration increases and the hemoglobin S concentration is reduced. The complete blood count is the best test to monitor changes, but the interpretation of the results in S/Beta thalassemia should be different.

A movement from traditional malarial chemoprophylaxis to the use of intermittent preventive treatment as a method of protection for children diagnosed with sickle-cell disease: A proposal for consideration based on a systematic review of the literature

Approximately 200,000 African children are born with sickle-cell anemia each year. Research has shown that individuals with hemoglobin disorders, particularly sickle-cell anemia, have increased susceptibility to contracting malaria. Currently it is recommended that patients diagnosed with sickle-cell anemia undergo malaria chemoprophylaxis in order to decrease their chances of malarial infection. However, studies have shown that routine administration of these drugs increases the risk of drug resistance and could possibly impair the development of naturally acquired immunity. Clinical trials have shown intermittent preventive treatment (IPT) to be an effective method of protection against malaria. The objective of this report was to review previously conducted clinical trials that study the effects of intermittent preventive treatment on malaria and anemia in infants and children. Based on the review, implications for its appropriateness as a protective measure against malaria for infants and children diagnosed with sickle-cell disease were provided.^ The 18 studies reviewed were randomized controlled trials that focused on IPT’s effect on malaria (7 studies), anemia (1 study), or both (8 studies). In addition to these 16, one study looks at IPT’s effect on molecular resistance to malaria, and another study is a follow-up to a study in order to review IPT’s potential to cause a rebound effect. The 18 th study in this review specifically looks at IPT’s protective efficacy in children with SCA. The studies in this report were restricted to randomized controlled trials that have been performed from 2000 to 2010. Reports on anemia were included to illustrate possible added benefits of the use of IPT specific to burdens associated with SCA other than malaria susceptibility. The outcomes of these studies address several issues of concern involving the administration of IPT: protective efficacy (in reference to age, seasonal versus perennial malaria regions, and overall effectiveness against malaria and anemia), drug resistance, drug rebound effect, drug side-effects, and long-term effects. Overall, these showed that IPT has a significant level of protective efficacy against malaria and/or anemia in children. More specifically, the IPT study evaluating children diagnosed with sickle-cell anemia proved IPT to be a more effective method of protection than traditional chemoprophylaxis. ^

Suggestions for establishing sickle cell disease programs.

Mode of access: Internet.

1972-1982 National Sickle Cell Disease Program, Howard University Center for Sickle Cell Disease, September 1982, Hyatt Regency-Crystal City, Arlington, Virginia.

Mode of access: Internet.

Sickle cell disease in newborns and infants : a guide for parents.

"April 1993"--P. [14].

An analysis of the Federal sickle cell disease program, FY 1971-Fy 1976 /

"April 1, 1975."

The Relationship Between Support Systems and Disease Burden for Families Coping with Sickle Cell Disease in South Africa and Cameroon

Background: Sickle cell disease (SCD) is a debilitating genetic blood disorder that seriously impacts the quality of life of affected individuals and their families. With 85% of cases occurring in sub-Saharan Africa, it is essential to identify the barriers and facilitators of optimal outcomes for people with SCD in this setting. This study focuses on understanding the relationship between support systems and disease outcomes for SCD patients and their families in Cameroon and South Africa.

Methods: This mixed-methods study utilizes surveys and semi-structured interviews to assess the experiences of 29 SCD patients and 28 caregivers of people with SCD across three cities in two African countries: Cape Town, South Africa; Yaoundé, Cameroon; and Limbe, Cameroon.

Results: Patients in Cameroon had less treatment options, a higher frequency of pain crises, and a higher incidence of malaria than patients in South Africa. Social support networks in Cameroon consisted of both family and friends and provided emotional, financial, and physical assistance during pain crises and hospital admissions. In South Africa, patients relied on a strong medical support system and social support primarily from close family members; they were also diagnosed later in life than those in Cameroon.

Conclusions: The strength of medical support systems influences the reliance of SCD patients and their caregivers on social support systems. In Cameroon the health care system does not adequately address all factors of SCD treatment and social networks of family and friends are used to complement the care received. In South Africa, strong medical and social support systems positively affect SCD disease burden for patients and their caregivers. SCD awareness campaigns are necessary to reduce the incidence of SCD and create stronger social support networks through increased community understanding and decreased stigma.

Protect your body, your temple : Get the Facts about Sickle Cell Disease and Sickle Cell Trait

These bookmarks state: Sickle cell disease is an inherited blood disorder that affects red blood cells and causes organ damage, anemia, and lifelong episodes of pain. The disease most commonly affects people of African, Asian, Mediterranean, Central and South American ancestry. About 70,000 Americans are currently diagnosed with sickle cell anemia. Newborn screening for sickle cell disease and trait is required in South Carolina and most other states. One in 10 African Americans has the sickle cell trait. Knowing if you have the trait is important! Also is a list of available resources with addresses and phone numbers.

The genomic analysis of erythrocyte microRNA expression in sickle cell diseases.

BACKGROUND: Since mature erythrocytes are terminally differentiated cells without nuclei and organelles, it is commonly thought that they do not contain nucleic acids. In this study, we have re-examined this issue by analyzing the transcriptome of a purified population of human mature erythrocytes from individuals with normal hemoglobin (HbAA) and homozygous sickle cell disease (HbSS). METHODS AND FINDINGS: Using a combination of microarray analysis, real-time RT-PCR and Northern blots, we found that mature erythrocytes, while lacking ribosomal and large-sized RNAs, contain abundant and diverse microRNAs. MicroRNA expression of erythrocytes was different from that of reticulocytes and leukocytes, and contributed the majority of the microRNA expression in whole blood. When we used microRNA microarrays to analyze erythrocytes from HbAA and HbSS individuals, we noted a dramatic difference in their microRNA expression pattern. We found that miR-320 played an important role for the down-regulation of its target gene, CD71 during reticulocyte terminal differentiation. Further investigation revealed that poor expression of miR-320 in HbSS cells was associated with their defective downregulation CD71 during terminal differentiation. CONCLUSIONS: In summary, we have discovered significant microRNA expression in human mature erythrocytes, which is dramatically altered in HbSS erythrocytes and their defect in terminal differentiation. Thus, the global analysis of microRNA expression in circulating erythrocytes can provide mechanistic insights into the disease phenotypes of erythrocyte diseases.

Pulmonary hypertension diagnosed by right heart catheterisation in sickle cell disease

Recent studies have recognised the importance of pulmonary hypertension (PH) in sickle cell disease (SCD). The aim of this study was to determine the prevalence and prognostic impact of PH and its features in patients with SCD. 80 patients with SCD underwent baseline clinical evaluation, laboratory testing, 6-min walk tests (6MWTs) and echocardiography. Patients with a peak tricuspid regurgitant jet velocity (TRV) of >= 2.5 m.s(-1) were further evaluated through right heart catheterisation (RHC) to assure the diagnosis of PH. Our study evidenced a 40% prevalence of patients with elevated TRV at echocardiography. RHC (performed in 25 out of 32 patients) confirmed PH in 10% (95% CI 3.4-16.5%) of all patients, with a prevalence of post-capillary PH of 6.25% (95% CI 0.95-11.55%) and pre-capillary PH of 3.75% (95% CI -0.4-7.9%). Patients with PH were older, had worse performance in 6MWTs, and more pronounced anaemia, haemolysis and renal dysfunction. Survival was shorter in patients with PH. Our study reinforced the use of echocardiography as a screening tool for PH in SCD and the mandatory role of RHC for proper diagnosis. Our findings confirmed the prognostic significance of PH in SCD as its association to pronounced haemolytic profile.

Quality of Life and Neurocognitive Functioning in Children with Sickle Cell Disease: Investigating the Feasibility of a Computerized Cognitive Training Program

Children with sickle cell disease (SCD) have a high risk of neurocognitive impairment. No known research, however, has examined the impact of neurocognitive functioning on quality of life in this pediatric population. In addition, limited research has examined neurocognitive interventions for these children. In light of these gaps, two studies were undertaken to (a) examine the relationship between cognitive functioning and quality of life in a sample of children with SCD and (b) investigate the feasibility and preliminary efficacy of a computerized working memory training program in this population. Forty-five youth (ages 8-16) with SCD and a caregiver were recruited for the first study. Participants completed measures of cognitive ability, quality of life, and psychosocial functioning. Results indicated that cognitive ability significantly predicted child- and parent-reported quality of life among youth with SCD. In turn, a randomized-controlled trial of a computerized working memory program was undertaken. Eighteen youth with SCD and a caregiver enrolled in this study, and were randomized to a waitlist control or the working memory training condition. Data pertaining to cognitive functioning, psychosocial functioning, and disease characteristics were obtained from participants. The results of this study indicated a high degree of acceptance for this intervention but poor feasibility in practice. Factors related to feasibility were identified. Implications and future directions are discussed.

Barriers to effective pain management in sickle cell disease

Sickle cell disease (SCD) is a long-term condition that would benefit from a long-term conditions approach to its care and management. SCD is growing in prevalence, affecting 10,000-12,000 people in the UK, with SCD sufferers having an increased life expectancy from in the past. The most problematic aspect of managing SCD is management of the pain from vaso-occlusive crises. Vaso-occlusive pain is the most common reason for hospital admissions in people with SCD and accounts for large numbers of accident and emergency (A&E) attendances. A literature review was carried out to examine the management of vaso-occlusive pain in SCD. The review identified three main barriers to effective pain management in SCD: the manifestation of vaso-occlusive pain, the sociocultural factors affecting pain assessment, and the concerns regarding addiction and pseudo-addiction. Addressing these barriers will allow people with SCD to have their pain managed more effectively, improve their quality of life and potentially reduce A&E attendances and admissions to hospital.