Positive Sickle Cell Research Articles

Sickle Cell Disease Revealed by Simultaneous Occurrence of Acute Coronary Syndrome and Pulmonary Embolism: A Case Report

The simultaneous occurrence of acute coronary syndrome (ACS) and pulmonary embolism (PE) in patients with sickle cell disease (SCD) presents notable diagnostic and management challenges. This case report describes a 25-year-old woman with SCD who, after an uncomplicated laparoscopic cholecystectomy, developed acute retrosternal chest pain, severe dyspnea, and tachycardia. Diagnostic workup included several key methods: thoracic CT angiography was performed, revealing massive bilateral pulmonary embolism and a pulmonary infarct. Echocardiography demonstrated myocardial abnormalities, such as wall motion defects and a mildly reduced ejection fraction. Electrocardiography showed ST-segment depression and T-wave inversions in the anteroseptal leads. To confirm the presence of coronary artery disease, coronary angiography identified significant thrombotic stenosis in the proximal left anterior descending artery. Sickle cell disease was confirmed through a positive sickle cell test, which identified the characteristic hemoglobin S. Despite aggressive treatment, the patient’s condition rapidly deteriorated, leading to death within 24 hours. This case underscores the critical role of a comprehensive diagnostic approach, including specific tests for SCD, in managing severe cardiovascular complications and highlights the need for tailored treatment strategies to improve patient outcomes.

CONHECIMENTO E PRÁTICA DE ENFERMAGEM NO ATENDIMENTO À DOENÇA FALCIFORME E HEMOGLOBINOPATIAS NA ATENÇÃO PRIMÁRIA

ABSTRACT Objective: to investigate the level of knowledge of nurses in Basic Health Units and their engagement in monitoring patients with sickle cell disease and other hemoglobinopathies. Methods: this is a qualitative, descriptive-exploratory study, carried out with 12 nurses from basic health units in the municipality of Santa Luzia/Minas Gerais between August 2018 and February 2019. The semi-structured interview was the technique used for data collection, which was analyzed using Content Analysis. Results: the analysis of the interviews emerged in the construction of three categories: understanding of sickle cell disease, risk factors, and alterations on physical examination; nursing care at the health unit according to the recommendation of the Ministry of Health; obstacles and facilitators for the tracking and identification of patients. Discourse analysis highlighted: the outstanding presence of misconceptions regarding sickle cell disease; the absence of effective follow-up of patients in the area covered by the nurse; and the non-existence of a positive sickle cell disease patient link with primary care. Conclusion: although nursing plays a fundamental role in monitoring and assisting patients with sickle cell disease, the study revealed a significant gap between care recommendations and practice in basic health units.

Knowledge of tribal women towards sickle cell anemia

Sickle cell anemia is wide spread among tribal communities in India. A high prevalence of the sickle gene has been demonstrated in various tribal communities of Gujarat state. Tapi is tribal dominated district. The patient suffering from sickle cell anemia develops blood related complication and sickle cell disease sufferers have also shortened lifespan and poor quality of life. So to combat against this disease we need to focus on tribal population. Knowledge plays an important role for achieving desired results. Thus, the study was carried out to assess the knowledge of tribal women towards sickle cell anemia. The data was collected purposively with 100 tribal women who have positive sickle cell status. The data was collected with the help of structured interview schedule and analyzed with appropriate statistical tools. It is indicated that majority of tribal women had young aged, sickle cell trait status, married, in joint family, more than half of tribal women had education upto higher secondary level & 36.00 per cent tribal women were illiterate. Nearly half of tribal women had no any type of social participation. Majority of tribal women were not taking medical consultancy and low level of knowledge about sickle cell anemia.

Operational analysis of the national sickle cell screening programme in the Republic of Uganda.

BackgroundSickle cell anaemia is a common global life-threatening haematological disorder. Most affected births occur in sub-Saharan Africa where children usually go undiagnosed and die early in life. Uganda’s national sickle cell screening programme was developed in response to a 2014 sickle cell surveillance study that documented a high disease prevalence.ObjectiveThis study describes the temporal and financial aspects of Uganda’s 2014–2019 sickle cell screening programme.MethodsNational sickle cell screening data from Uganda’s Central Public Health Laboratories were used to calculate turn-around times (TATs) from sample collection to delivery, testing, and result reporting for blood samples collected from February 2014 to March 2019. The parameters affecting specific TATs were assessed. The exact programme expenditures were analysed to determine cost per test and per positive sickle cell disease case detected.ResultsA total of 278 651 samples were analysed. The median TAT from sample collection to laboratory receipt was 8 days (interquartile range [IQR]: 6–12), receipt to testing was 3 days (IQR: 1–7), and testing to result reporting was 6 days (IQR: 3–12). Altogether, the sample continuum averaged 16 days (IQR: 11–24). Lower level healthcare facilities were associated with longer sample delivery TATs. Calendar months (January and December) and larger sample volumes impacted testing and result reporting TATs. The cost per test was $4.46 (United States dollars [USD]) and $483.74 USD per positive case detected.ConclusionUganda’s sickle cell screening programme is efficient and cost-effective. Universal newborn screening is the best strategy for detecting sickle cell anaemia in Uganda.

Knowledge Deficit of Sickle Cell Trait Status: Can Nurses Help?

Sickle cell disease and sickle cell trait are identified through universal newborn screening, which has been implemented in all hospitals across the United States since the 1970s. Yet, studies report that only 16% of Americans with sickle cell trait know their status. Despite these striking statistics, there appears to be no standardized methods for reporting positive sickle cell trait results of newborn screening to doctors or families of affected persons. This article will demonstrate how current literature supports the gaps in knowledge of trait status and its implications as well as knowledge deficit of inheritance patterns of prospective parents. The article will also elucidate how knowledge deficit in this subject adversely affects primary prevention strategies including genetic counseling. Primary prevention of sickle cell disease is a public health area that can be championed by registered nurses who have the tools and experiences to effectively handle case management and patient education.

A cross sectional study to understand socio demographic profile of patients of sickle cell anemia in a Taluka of South Gujarat

Background: India has the largest concentration of tribal populations globally. A high prevalence of sickle cell anemia is seen in tribal communities of South Gujarat. The aims and objectives were to study socio- demographic profile of the patients having positive sickle cell status.Methods: It was a cross-sectional study, where Bardoli taluka was selected purposively. All patients of sickle cell anemia registered at all PHCs of Bardoli Taluka during period between June 2010 and May 2011 & aged between 18 to 30 years were taken in study.Results: This study included total 276 cases of which 264 (96%) had sickle cell trait, while 12 (4%) had sickle cell disease. Majority of patients were from Umrakh and Vanskui PHC. More than 90% of patients belonged to ST caste and more than 40% among them were from Rathod sub caste.Conclusions: More than 90% of patients were laborers and majority of them belonged to low socio economic class. Mean age at diagnosis of sickle cell anemia ranged from 21 to 25 years.

Study of Knowledge, Attitude and Practice about sickle cell anemia in patients with positive Sickle Cell Status in Bardoli taluka

Background: Sickle cell anaemia is widely distributed in African and American negroes. It also seen in Arabian peninsula, Indian Subcontinent and parts of Europe. A high prevalence has been demonstrated in various tribal communities of Gujarat. Aims & Objective: To assess Knowledge, Attitude and Practice about sickle cell anaemia in patients with positive Sickle Cell Status. Materials and Methods: Cross Sectional Observational Study from June 2010 to May 2011. 276 patients with purposive sampling in Bardoli Taluka having sickle cell positivity in age group of 18 to 30 years were taken. Results: Only 16% of the study participants knew correct symptoms of Sickle cell anaemia. 30 % patients were availing the treatment of some kind. It was observed that females were more active as compared to males in taking medication for Sickle Cell Anaemia and the difference between them was found to be significant. It was found that 96 % of the study participants had received Color coded cards after testing showing the high accomplishment of mass screening programs in identifying Sickle Cell Status by simple means. But approximately 90% didn’t know the cause of disease and only 52 (18 %) were counselled about this disease. More than 95% of the participants were unaware regarding their haemoglobin status. Conclusion: All the strategies for the prevention of this outrageous disease will be effective only if they are utilized to its maximal extent by creating more awareness to the affected and also the other population.

Proposed low-cost premarital screening program for prevention of sickle cell and thalassemia in Yemen.

In Yemen, the prevalence of sickle cell trait and β-thalassemia trait are high. The aim of this premarital program is to identify sickle cell and thalassemia carrier couples in Yemen before completing marriages proposal, in order to prevent affected birth. This can be achieved by applying a low-cost premarital screening program using simple blood tests compatible with the limited health resources of the country. If microcytosis or positive sickle cell is found in both or one partner has microcytosis and the other has positive sickle cell, so their children at high risk of having sickle cell or/and thalassemia diseases. Carrier couples will be referred to genetic counseling. The outcomes of this preventive program are predicted to decrease the incidence of affected birth and reduce the health burden of these disorders. The success of this program also requires governmental, educational and religious supports.

Haematological profile of sickle cell anaemia in children with human parvovirus B19 infection in Jos, North Central Nigeria

The recognition and characterization of haematological alterations accompanying viral infections could serve as tools for diagnosis, assist in disease prognosis and improve patient management. This paper aims to evaluate the haematological profile of parvovirus B19 antibody positive sickle cell patients, who are inherently prone to morbidity and mortality from parvovirus infection. A total of 200 sickle cell patients aged 1 to 18 years were recruited into the study. Screening for IgG and IgM parvovirus B19 antibodies were done using Elisa Kit (Institut Viron/serion GMbH Wurzbury, Germany). Complete blood count (PCV: Packed cell volume, WBC: White cell count, Platelet count) and reticulocyte count were carried out on all subjects using automated coulter machine. The mean Platelet count was significantly lower among IgM antibody seropositive children compared to those who are seronegative (p < 0.05). Children who were IgM antibody seropositive had a significantly higher mean reticulocyte count and index (P < 0.05). IgG seropositivity was not associated with any significant alteration in these haematological parameters. Haematological alterations could occur in sickle cell anaemia children during acute infection with the human parvovirus B19. It is recommended that clinicians caring for these patients be made more aware of the existence of this virus as well as the possible haematological alterations that could accompany it in our environment. Hospital laboratories should be encouraged to introduce diagnostic tests for parvovirus B19 infection. Key words: Haematological profile, sickle cell anaemia, parvovirusB19, antibody status.

Postoperative Coma in a Child with Carnitine Palmitoyltransferase I Deficiency

Postoperative Coma in a Child with Carnitine Palmitoyltransferase I Deficiency

Women with sickle cell trait are at increased risk for preeclampsia

Objective: Our purpose was to determine the rate of preeclampsia in women who are positive for sickle cell trait. Study design: All African-American women were tested for sickle cell trait with the “sickledex” screen at the first prenatal visit and prospectively enrolled in this study from March 1994 to June 1995. “Sickledex” screens were confirmed with hemoglobin electrophoresis. Demographic data were collected at the time of enrollment. Outcome data, including preeclampsia (as defined by The American College of Obstetricians and Gynecologists criteria), gestational age at delivery, birth weight, and postpartum endometritis were collected immediately post partum. Assuming a 10% rate of positive sickle cell trait, 1100 patients were required to demonstrate a doubling in the rate of preeclampsia with 80% power and p < 0.05. The Student t test, the Mann-Whitney U test, χ 2 analysis, and Fisher's exact tests were used for statistical analysis. Results: Of 1584 women enrolled in the study, 162 were positive for sickle cell trait. Sickle cell trait–positive women were older than the sickle cell trait–negative women (24.4 ± 4.6 vs 23.0 ± 4.4 years, p < 0.001 ), but there was no significant difference in parity. The rate of preeclampsia was significantly increased in sickle cell–positive women (24.7% vs 10.3%, p < 0.0001). There was no significant difference in the rate of chronic hypertension, diabetes, or smoking. Parous sickle cell–positive women more frequently gave a history of preeclampsia in a previous pregnancy (21.4% vs 9.3%, p < 0.0001). There was a statistically significant decrease in gestational age at delivery and birth weight in sickle cell trait–positive women (36.7 ± 2.7 vs 37.7 ± 3.0 weeks, p < 0.0001; and 3082 ± 591 vs 3369 ± 573 gm, p < 0.0001). The rate of postpartum endometritis was significantly increased in the women positive for sickle cell trait (12.3% vs 5.1%, p < 0.001), although both groups had a similar cesarean section rate (14.8% vs 12.6%, not significant). Conclusion: This is the first prospective study to demonstrate that sickle cell trait–positive women are at significantly higher risk for development of perinatal complications that have traditionally been associated with sickle disease. (Am J Obstet Gynecol 1997;177:425-8.)

Diagnostic value of anemia, red blood cell morphology, and reticulocyte count for sickle cell disease

To determine the diagnostic value of anemia, RBC morphology, and reticulocyte count for differentiating patients with sickle cell trait from those with sickle cell disease, who have acute medical or surgical conditions and a positive sickle cell screen. Retrospective chart review. A midwest urban children's hospital with 220 beds and 36,000 emergency department visits per year. One hundred six patients with sickle cell trait and 152 patients with sickle cell hemoglobinopathies. Anemia was observed significantly more often in patients with sickle cell disease compared with sickle cell trait (P less than .001) at all ages 3 months and older. However, anemia alone as a diagnostic test lacked high sensitivity and specificity in children less than 4 years old. Sensitivity approached 100% with the presence of anemia, abnormal RBC morphology, or reticulocyte count of more than 2%. Absence of anemia alone does not exclude the diagnosis of sickle cell disease in children less than 4 years old. To differentiate trait from sickle cell disease, we recommend determination of not only hemoglobin adjusted for age but also of RBC morphology and reticulocyte count on all children presenting with acute medical and surgical conditions and a positive sickle cell screen.

Hemoglobin S-G (S-D) syndrome

Two subjects are described who had positive sickle cell preparations and routine alkaline electrophoretic patterns showing only hemoglobins S, F and A 2. Although this combination suggests sickle cell anemia, their hemoglobin separated into two major bands on agar gel electrophoresis using a citrate buffer, pH 6.2. The non-S hemoglobins were identified as Osu-Christiansborg [β52 Asp → Asn (D3)] in one instance and as G Galvestonton [β43 Glu → Ala (CD2)] in the other. By most criteria, including exercise testing for one and red cell survival studies for both, these patients resembled patients with sickle cell trait. Careful study and diagnosis are essential to avoid unfairly stigmatizing subjects with benign laboratory phenomena as having sickle cell anemia or even sickle cell disease.

Priapism and Painless Hematuria In Hemoglobin C Trait

To the Editor.— Sickle cell disease (homozygous SS disease) is well known as a cause of priapism. Heterozygous sickle cell trait is well known to be associated with painless hematuria. It is perhaps of more than passing interest that we have seen two patients with hemoglobin C trait, one suffering from priapism, the other suffering from intermittent painless hematuria. The first patient was a 49-year-old muscular, healthy appearing black man, who, in March of 1967, awakened one morning with priapism. He was admitted by T. S. Su, MD, urologist, to Memorial Medical Center of Chatham County, and underwent a cavanocaval shunt. A subsequent medical evaluation revealed that the patient suffered from essential hypertension, but had no other significant abnormalities. A starch gel hemoglobin electrophoresis showed hemoglobin A value of 70% and hemoglobin C value of 30%. Our laboratory had reported a positive sickle cell preparation, and Dr. Robert M. Bookchin

The relationship of sickle cell trait to variations in blood pressure.

Rossi-Espagnet, A., K. W. Newell, R. MacLennan, J. B. Mathison (Division of Epidemiology, Tulane University, New Orleans, La.) and S. P. H. Mandel (Department of Community Medidne, University of Vermont, Burlington, Ve.). The relationship of sickle cell trait to variations in blood pressure. Amer. J. Epid., 1968, 88: 33 44.—The investigation that forms the object of this paper is related to the known fact that Negroes exhibit higher blood pressures and higher and earlier mortality due to hypertensive heart disease and cerebrovascular accidents than non-Negroes. The hypothesis of a possible association between sickle cell trait and variations of blood pressure was tested in two Negro populations of Colombia, South America in an attempt to find a possible explanation for the differences mentioned above. The sickle cell trait is widely distributed in the Negro race and relatively uncommon among non-Negroes, and certain types of renal damage have been found to be associated with this. A total of 2, 155 persons of both sexes aged 20 years or more were examined in defined sections of two Columbian towns at sea level and at 1, 000 m of altitude, respectively. Blood pressure values were obtained by single casual measurements using mercury manometers. The results of the study indicated that there were no significant differences in either systolic or diastolic blood pressures of Negroes who had positive sickle cell slide tests as compared with Negroes who had negative sickle cell slide tests.

Fatal Hemoglobin S-C Disease Crises Following Tonsillectomy

WHILE many improvements in surgical and anesthetic techniques have made the tonsillectomy and adenoidectomy an even safer procedure than in previous years, fatal complications still occur. Each year in the United States, about 300 persons die during the operation or as a direct result of it.¹Many of these deaths are preventable. The following case report demonstrates an unusual complication which may be anticipated by a more comprehensive preoperative evaluation. <h3>Report of a Case</h3> A 7-year-old Negro girl was admitted to Charity Hospital of Louisiana at New Orleans on Jan 28, 1964, for a tonsillectomy and adenoidectomy. She had a three-year history of recurrent tonsillitis, chronic otitis media, and mouth breathing. In July 1961, this operation was considered but was deferred because of a 31% hematocrit value. In December 1961, the patient had a positive sickle cell preparation. She was next seen at Charity Hospital on Nov 5, 1963,