Nature Of Sickle Cell Disease Research Articles

"Death is as Much Part of Life as Living": Attitudes and Experiences Preparing for Death from Older Adults with Sickle Cell Disease.

The life-limiting and unpredictable nature of sickle cell disease (SCD) is well-established, yet there is limited literature on end-of-life planning. The purpose of this study was to describe perspectives about preparing for death for older adults with SCD. We enrolled 19 older adults with SCD (age ≥ 50years) into this qualitative descriptive study. Theme 1 was "anticipation of early death," with sub-themes: (a) informed of early death and (b) making plans for death. Theme 2 was "near death experiences." Theme 3 was "differences in level of comfort with death" with subthemes: (a) death as a part of life and (b) differences in level of comfort discussing death. Theme 4 was "influence of spirituality" with subthemes: (a) God controls the timing of death and (b) belief in the afterlife. These results will inform interventions to improve the quality of patient-provider communication to provide goal-concordant end-of-life care for adults with SCD.

Le travail de la souffrance au cours d’une situation de handicap : le cas de la drépanocytose

ObjectiveSickle cell disease is the most common genetic disease in the world. Africa is the continent most affected by this disease, which is costly to manage for patients and their families. When not properly managed, it takes a huge toll in terms of suffering and disability on the sick person and their families. This article presents the results of a study which focused on the work of suffering, during a situation of disability, induced by this context of chronic and progressive pathology. Participants and methodOf the 12 patients solicited, 3 agreed to participate in this research. These 3 participants, whose ages ranged from 18 to 27 years, were interviewed in a hospital in Yaoundé. The data were collected via a clinical research interview recorded by a dictaphone. These anonymous data were subjected to a logical-semantic content analysis. ResultsThe analysis and the interpretation of data allowed us to observe that the work of suffering in these three participants takes on various aspects as heterogeneous as they are spectacular, made up of neurotic and manic arrangements, of conducts centered on the body or of theoretical constructions elaborated around the illness, the handicap and/or the filiation. The subjects powerless in the face of the chronicity and disabling nature of sickle cell disease are in a permanent process of searching for meaning concerning the disease and, of course, themselves as people affected by this disease. This permanent quest for meaning makes them more active against the disease and less powerless against it. ConclusionThe work of suffering, as put forward by the patients, can be thought of, therefore, as a manifestation of the global process of sexualization that phenomenological and psychoanalytical theories deal with. It opens on a redistribution of the libido, a rearrangement of the relation to the disease and the handicap. The position of narcissistic withdrawal which characterizes the situation of handicap, and the somatic attack is abandoned in favor of an effort of objectal reinvestment which the subject uses to get out of a handicapping position made of passivity, abandonment to the medical body, assignment to a stigmatizing status of sick or unfit. For the practitioner who works with patients, these results suggest various practical and therapeutic implications.

Determinants of Care-Seeking Practices for Children with Sickle Cell Disease in Ekiti, Southwest Nigeria.

BackgroundDue to the chronic nature of sickle cell disease (SCD), affected individuals may seek help from diverse places thus raising the need to understand their health-seeking behavior (HSB) in order to design an appropriate management policy for them.AimThe aim of this study was to evaluate the HSB among pediatric SCD patients relative to their non-SCD counterparts attending a tertiary facility in Southwest Nigeria and identified predictors of poor HSB among SCD patients.MethodsA total of 110 children with SCD were recruited and studied for their HSPs which were compared with 110 non-SCD patients with other chronic medical conditions. Questionnaires were used to obtain self-reported information on participants’ socio-demographic data and HSB. Logistic regression was used to determine the predictors of poor HSB among the SCD cohort.ResultsMore SCD patients received treatments at private hospitals, patent medicine stores and faith-based centers compared to their non-SCD counterparts (p=0.0052; 0.006; and 0.007), respectively. No difference was observed in the patronage of traditional care centres 10 (9.1%) vs 6 (5.5%). More SCD patients 61 (55.5%) vs 35 (31.8%) exhibited poor HSB (p=0.0004). SCD patients who were not enrolled on health insurance scheme were 18 times more likely to have poor HSB (OR=18.38, 95% CI (4.41–76.57), p value= <0.0001) while absence of VOC within the preceding year reduces the risk of poor HSB by 91.5% (OR=0.085, 95% CI (0.028–0.258), p value= <0.0001).ConclusionSCD patients in the study locality had poor HSB. This raises the need for their education on proper HSB. More enrollment into health insurance scheme and the prevention of VOC will lessen the burden of poor HSB. The high patronage of non-hospital care facilities in this study raises the need for stakeholders to monitor activities and train the operators at these informal care centres.

Insights from Comparative Serum Proteomic Profiling of Children with Sickle Cell Disease: The Effect of Hydroxyurea and Genotype on Protein Abundance

▪Introduction: Sickle cell disease (SCD) is a multisystem disease, with substantial variation in presentation and clinical course. Many protein biomarkers have been described in serum and plasma of children with homozygous sickle cell disease. In order to understand the effect of hydroxyurea and the hemoglobin SC genotype on serum protein levels, we compared the relative abundance of serum proteins in healthy children and children with SCD.Methods: The relative concentration of 140 different serum proteins was measured using liquid chromatography tandem mass spectrometry. Serum samples of healthy children and of children with SCD were collected at a baseline visit: 30 healthy African American children without sickle cell trait, 30 children with hemoglobin SS genotype, 30 children with hemoglobin SC (HbSC) genotype, and 30 children with hemoglobin SS (HbSS) genotype while adherent to hydroxyurea for at least one year. All groups were matched for age and gender. Type of SCD, hydroxyurea dose, laboratory values prior to starting hydroxyurea and at the time of sample collection were recorded. Disease and control samples were processed in a random block design stratified by disease, sex, and age to minimize the effect of sample preparation and technician processing. Samples were depleted of albumin and immunoglobulins. Tryptic peptides were analyzed on a linear ion-trap (LTQ) mass spectrometer. The acquired data was searched against the Human UniProt database using X!Tandem. Peptide identification and protein assignment were performed using the PeptideProphet and ProteinProphet in the Trans-Proteomic Pipeline. Alignment and quantification were done as described (Lai, X. et. al. 2011). Peptide-level quantitative information was analyzed for each protein using a mixed effects model fit with restricted maximum likelihood estimation to test the differential abundance of each protein. Within each comparison, the false discovery rate was controlled at 5% using the method of Benjamini and Hochberg.Results: Seventy-one serum proteins were significantly different between the children with HbSS disease and the healthy children. In contrast, between children with HbSS disease treated with hydroxyurea and healthy children, only 56 serum proteins were significantly different. Furthermore, in children with HbSC disease, only 25 serum proteins were significantly different compared to healthy children. In assessing the effect of hydroxyurea treatment on serum protein abundance, we found a total of 50 proteins that were significantly different between the 30 children with HbSS disease not prescribed hydroxyurea and the 30 children who were adherent to hydroxyurea (average 24 mg/kg/day) for at least one year (average 3.3 years). We also found a total of 41 proteins that were significantly different in comparing the 30 children with HbSS disease and the 30 children with HbSC disease.Conclusion: Due to the multisystem nature of sickle cell disease, proteins from many pathways are dysregulated, including inflammatory proteins, hemolysis-associated proteins, proteins involved in coagulation and complement regulation and apolipoproteins. Our findings indicate that the increase of HbF might not be the only beneficial effect of hydroxyurea treatment and that some of the clinical improvement might be due to decreased serum protein dysregulation. DisclosuresHulbert:Pfizer, Inc.: Other: spouse employment.

Red blood cells and thrombin generation in sickle cell disease

The prothrombotic nature of sickle cell disease (SCD) is evidenced by the chronically elevated levels of almost all coagulation activation biomarkers, and an increased incidence of certain thrombotic events, including venous thromboembolism. Numerous studies have attempted to define the extent and elucidate the mechanism of the observed increase in thrombin generation in SCD patients in vivo. In general, these studies were performed using thrombin generation assays in platelet poor or platelet rich plasma and showed little difference in endogenous thrombin potential between the SCD cohort and healthy matched controls. In SCD, erythrocytes and monocytes have been demonstrated to exhibit procoagulant characteristics. Thus, the absence of these cellular components in standard thrombin generation assays may fail to reflect global hypercoagulability in the whole blood of patients with SCD. We were therefore surprised to see no difference in net thrombin generation in tissue factor-initiated initiated clotting of whole blood from patients with SCD. However, we are continuing to reconcile these seemingly disparate observations by slight modifications of the whole blood model that include alternative coagulation triggers and a re-examination of the net thrombin generation when the protein/protein S system is simultaneously interrogated.

Somatization in the Conceptualization of Sickle Cell Disease

The unpredictable nature of sickle cell disease (SCD) and its social and environmental consequences can produce an unhealthy and almost exclusive focus on physical functioning. At the upper range of this focus on health concerns is somatization. In the current study, using 156 adult patients (55.13% female, 86) with SCD, mean age 35.59 +/- 12.73, we explored the relationship of somatization to pain. We found somatization to be predictive of pain severity and current pain intensity as well as a range of averaged indices of pain over time (p < .0001). We further found somatization to be predictive of a range of negative psychological experiences to include depression, anxiety, and hostility (p < .0001). We interpret these data to suggest that patients with SCD who have a propensity to focus exclusively on their health or are more sensitive to minor changes in their health status (somatization) may also be more likely to report greater concerns about their health and higher ratings of pain.

Patterns of mortality in adult sickle cell disease in Al-Hasa region of Saudi Arabia

Patterns of mortality in adult sickle cell disease in Al-Hasa region of Saudi Arabia

Hearing loss and auditory function in sickle cell disease

Sickle cell disease was first reported in 1910 by J. Herrick, and since then, various associated conditions and complications have been described. Sickle cell disease is a hereditary disorder characterized by abnormality of the hemoglobin in the red blood cell. During periods of decreased oxygen tension in the red blood cell's environment, the abnormal hemoglobin within the red blood cell polymerizes and causes it to assume its sickled shaped. This morphological change and its associated physiological changes drastically reduce the ability of red blood cells to navigate and deliver oxygen throughout the body. Sickle cell disease is a significant health problem affecting 1 in 400 African-Americans in the United States. One in 10 African-Americans in the United States has sickle cell trait. A variety of hemoglobinapathies are classified as sickle cell disease. Variants that simultaneously occur with hemoglobin S in high frequency are hemoglobins C and β Thalassemia, and less frequently hemoglobin E. Sickle cell disease is characterized by chronic hemolytic anemia, end-organ damage, a heightened susceptibility to infections, and intermittent episodes of vascular occlusion causing both acute and chronic pain. Neurological symptoms are frequent in patients diagnosed with sickle cell disease. Considering the vaso-occlusive nature of sickle cell disease, the potential for auditory damage is not unexpected. However, the incidence of subjective hearing impairment among sickle cell anemia subjects is very low; therefore, the interest in hearing loss associated with the disease is not in its symptomatology, but in its pathogenesis. The relationship between sickle cell anemia and hearing loss is documented, but little is known about the relationship. Numerous investigations have assessed peripheral auditory sensitivity with a wide disparity of results. In the article, we will discuss: • The genetic characteristics and the pathophysiology of sickle cell disease; • The prevalence and predominate site of hearing loss and/or auditory dysfunction during sickle cell crisis and with the disease under control (non-crisis); • A model for appropriate audiological assessment and treatment of sickle cell disease patients, including published results of investigations utilizing this model. In view of the diversity of results and speculative etiology presented here and in the literature, the relationship between sickle cell anemia, auditory sensitivity, and auditory function warrants additional investigation. Learning outcomes: As a result of this activity, the participant will read descriptions of the genetic and pathophysiological characteristics of sickle cell disease. The participant will examine evidence of the prevalence of hearing loss and auditory dysfunction in the sickle cell population, as well as the overall hearing health risk for sickle cell patients in comparison to the risk for the normal hemoglobin population. The participant will examine a model for appropriate audiological assessment of treatment of patients with sickle cell disease.

Liver Function Tests in Sickle Cell Anemia Patients: A Case-Control Study in Saudi Arabia

This study was conducted on 45 sickle cell anemia patients from the eastern province of Saudi Arabia and their age- and sex-matched controls from the same population, to investigate the influence of the sickle cell gene on liver function tests. Total and direct bilirubin, total protein, serum glutamate oxaloacetate transaminase, and serum glutamate pyruvate transaminase showed a statistically significant increase in the sickle cell anemia patients, compared with controls. The increase, however, was lower than that reported for other ethnic groups, including the Sudanese and Jamaicans. The results are presented and discussed in the light of the mild nature of sickle cell disease encountered in the eastern province of Saudi Arabia.

On the Nature of Sickle Cell Disease in the South-Western Province of Saudi Arabia

Sickle cell disease (SCD) occurs at a high prevalence in different parts of Saudi Arabia. Several reports indicate that the disease follows a mild clinical course in the Saudi population of the eastern province of Saudi Arabia, while little is known about the disease in other parts of the country. This study was conducted on 53 children from the Saudi Arabian south-western province with sickle cell disease and 53 age- and sex-matched normal controls (haemoglobin AA phenotype). A statistically significant difference was encountered in the haematological parameters investigated in the two groups. The SCD patients were divided into subgroups with high and low Hb F levels, alpha- and beta-thalassaemia and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. The haematological parameters were then compared in the different sub-groups. No significant difference could be demonstrated in the haematological parameters in patients with a high or low Hb F level. In patients without thalassaemia, the red cell count, total haemoglobin and haematocrit were significantly lower, while MCV, MCH and MCHC were higher. G-6 PD deficiency existed in association with thalassaemias, and apart from a reduction in MCV and MCH, no other statistically significant difference could be demonstrated. Clinical examination revealed a severe disease with several cases suffering from the hand and foot syndrome.

Pattern of bacterial infections in homozygous sickle cell disease. A report from Saudi Arabia.

Streptococcus pneumoniae is the leading pathogen in children with sickle cell disease. Forty children younger than 20 years of age who had sickle cell disease and septicemia, meningitis, or osteomyelitis/septic arthritis were identified. The causes included Streptococcus pneumoniae (20%) and gram-negative organisms (mainly Salmonella) (70%). The gram-negative infections occurred in the first decade of life in 45% of our patients. We believe that this pattern of infection is different and related to the mild nature of sickle cell disease in our patients and to their persistent splenic function. The administration of pneumococcal vaccination may also have played a role. Microinfarcts of the intestinal wall allow the access of gram-negative organisms to the circulation. In places where gastrointestinal tract infections, especially Salmonella, are common, antibiotic therapy effective against these organisms is recommended initially with adjustment after identification and sensitivities are known.

Screening for abnormal hemoglobins in the middle east: new data on hemoglobin S and the presence of hemoglobin C in Saudi Arabia.

48 of 391 apparently healthy adult Saudi males had an AS hemoglobin pattern on electrophoresis, four subjects had an S pattern, and two subjects AC. A dithionite screening test lacked sensitivity and specificity in detecting hemoglobin S under the conditions of this study. A sickle cell trait frequency of 0.123 evidenced by hemoglobin electrophoresis correlates closely with previous studies of hemoglobinopathies in Saudi Arabs. The presence of four subjects with sickle cell disease in the study group provides further evidence of the "benign" nature of sickle cell disease in Saudi Arabia.

Screening tests for sickle cell disease. 1.

Routine tests for sickle cell hemoglobin are being implemented in many areas as a result of an increased awareness of the incidence and serious nature of sickle cell disease. Detection of the disease is important to both patients and physicians so that unnecessary surgery can be avoided and proper management instituted.