scholarly journals Priapism in Sickle Cell Anemia: Emerging Mechanistic Understanding and Better Preventative Strategies

Anemia ◽  
2011 ◽  
Vol 2011 ◽  
pp. 1-6 ◽  
Author(s):  
Genevieve M. Crane ◽  
Nelson E. Bennett
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Treatment Strategies ◽  
Vascular Complications ◽  
Cell Disease ◽  
Nitric Oxide Signaling ◽  
Risk Of Death ◽  
Ischemic Priapism

Sickle cell anemia is a common and disabling disorder profoundly affecting mortality as well as quality of life. Up to 35% of men with sickle cell disease are affected by painful, prolonged erections termed ischemic priapism. A priapic episode may result in fibrosis and permanent erectile dysfunction. The severity of sickle cell disease manifestations is variable dependent on a number of contributing genetic factors; however, priapism tends to cluster with other severe vascular complications including pulmonary hypertension, leg ulceration, and overall risk of death. The mechanisms underlying priapism in sickle cell disease have begun to be elucidated including hemolysis-mediated dysregulation of the nitric oxide signaling pathway and dysregulation of adenosine-mediated vasodilation. A better understanding of these mechanisms is leading toward novel preventative strategies. This paper will focus on the mechanisms underlying development of ischemic priapism in sickle cell disease, current acute and preventative treatment strategies, and future directions for improved management of this disorder.

Severity of Sickle Cell Disease: Modeling Interrelationships among Hemolysis, Pulmonary Hypertension and Risk of Death.

Blood ◽  
2006 ◽  
Vol 108 (11) ◽  
pp. 786-786
Author(s):  
Paola Sebastiani ◽  
Vikki G. Nolan ◽  
Clinton T. Baldwin ◽  
Maria M. Abad-Grau ◽  
Ling Wang ◽  
...  
Keyword(s):  
Pulmonary Hypertension ◽  
Sickle Cell Disease ◽  
Disease Severity ◽  
Hemolytic Anemia ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Clinical Severity ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Risk Of Death

Abstract A single point mutation in the β hemoglobin gene causes sickle cell disease (SCD), but patients have extremely variable phenotypes. Hemolysis-related complications include pulmonary hypertension (PHT), priapism, stroke and leg ulceration; blood viscosity and sickle vasoocclusion are associated with painful episodes, acute chest syndrome and osteonecrosis. Predicting who is at highest risk of death would be useful therapeutically and prognostically. Applying Bayesian network modeling that describes complex interactions among many variables by factorizing their joint probability distribution into modules, to data from 3380 SCD patients, we constructed a disease severity score (DSS: 0, least severe; 1, most severe), defining severity as risk of death within 5 years. A network of 24 variables described complex associations among clinical and laboratory complications of SCD. The analysis was validated in 140 patients whose SCD severity was assessed by expert clinicians and 210 adults where severity was also assessed by the echocardiographic diagnosis of PHT and death. Information about PHT allowed a comparison of the DSS with the tricuspid regurgitant jet velocity (TRJV), an objective marker of PHT and an independent risk factor for death. DSS and three indices of clinical severity (severity ranking of individuals by expert clinicians; objective measurement of the presence and severity of PHT; risk of prospective death) were correlated. Among living subjects, the median score was 0.57 in 135 patients without PHT, 0.64 in 40 patients with mild PHT and 0.86 in 15 patients with severe PHT. The difference in average score between living patients with and without PHT is significant. The same increasing trend was noticeable in the subjects who died during follow-up: 0.60 in subjects without PHT; 0.68 in subjects with mild PHT; 0.79 in subjects with severe PHT. The utility of the DSS is also supported by the ability to assign a score to subjects for whom the TRJV cannot be measured. Surprisingly, besides known risk factors like renal insufficiency and leukocytosis, we identified the intensity of hemolytic anemia and clinical events associated with hemolytic anemia as contributing to risk for death. Priapism, an excellent reflection of the hemolytic anemia-related complications of SCD, is associated with PHT and its association with death was unexpected. Laboratory variables predictive of disease severity included LDH and reticulocytes that reflect the intensity of hemolytic anemia. Elevated systolic blood pressure increased the odds of death by 3.4, consistent with hypertension as a marker of early death in SCD. Subjects with sickle cell anemia are at greatest risk compared with subjects with sickle cell anemia-α thalassemia and with subjects with HbSC disease. Our model suggests that the intensity of hemolytic anemia, estimated by LDH, reticulocyte count and AST, and shown previously to be associated with PHT, priapism, leg ulceration and possibly stroke, is an important contributor to death. This model can be used to compute a personalized measure of disease severity that might be useful for guiding therapeutic decisions and designing clinical trials.

Pulmonary Hypertension as a Risk Factor for Death in Patients with Sickle Cell Anemia

Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4819-4819
Author(s):  
Rodolfo D Cancado ◽  
Maria Cristina A Olivato ◽  
Newton Nunes Lima Filho ◽  
Orlando Campos ◽  
Carlos Chiattone
Keyword(s):  
Pulmonary Hypertension ◽  
Sickle Cell Disease ◽  
Pulmonary Artery ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Systolic Pressure ◽  
Pulmonary Artery Systolic Pressure ◽  
Cell Disease ◽  
Risk Of Death ◽  
Hydroxyurea Therapy

Abstract Pulmonary hypertension develops in most forms of hereditary and chronic hemolytic anemia, including sickle cell disease, thalassemia, hereditary spherocytosis, and paroxysmal nocturnal hemoglobinuria, suggesting that there is a clinical syndrome of hemolysis-associated pulmonary hypertension. Retrospective studies from tertiary care referral centers suggest a prevalence of pulmonary hypertension in adults with sickle cell disease ranging from 20 to 40%. Despite the fact the elevations in pulmonary artery pressures are slight, morbidity and mortality are high. In adult sickle cell anemia patients, pulmonary hypertension is emerging as a major risk factor for death. We performed Doppler echocardiographic assessments of pulmonary-artery systolic pressure in 80 consecutive patients (20 men and 60 women; mean [±SD] age, 30 ± 10.8 years) between 1/20/2006 and 1/20/2008. The genotype on the basis of hematologic and hemoglobin characteristics was hemoglobin SS in all patients. Pulmonary hypertension was prospectively defined as a tricuspid regurgitant Jet velocity (TFJV) of at least 2.5 m per second. Patients were followed for a mean of 18 months (6–24 months), and data were censored at the time of death or loss to follow-up. Doppler-defined pulmonary hypertension occurred in 37.5 percent of patients (30/80). Multiple logistic-regression analysis, with the use of the dichotomous variable of a tricuspid regurgitant jet velocity of less than 2.5 m per second or 2.5 m per second or more, identified age, female sex, deferasirox therapy, left ventricular mass index, pulmonary artery systolic pressure, reticulocytes, white-cell count, platelet count, lactate dehydrogenase (a marker of hemolysis), blood urea nitrogen, creatinine, uric acid and self-reported history of cardiovascular complication, billiary stones, retinopathy and acute chest syndrome, as significant independent correlates of pulmonary hypertension. The hemoglobin level, fetal hemoglobin level, hydroxyurea therapy and serum ferritin level were unrelated to pulmonary hypertension. Hazard rate for death according to the TFJV of at least 2.5 m per second, as compared with a velocity of less than 2.5 m per second, was associated with an increased risk of death (0.00 versus 2.54; P=0.998). Mortality rate in 24 months was 6.7% (2/30) for patients with TRJ velocity ≥ 2.5 m/sec versus 0.0% (0/50) for patients without pulmonary hypertension. Pulmonary hypertension, diagnosed by Doppler echocardiography, is common in adults with sickle cell disease. It appears to be a complication of chronic hemolysis, is resistant to hydroxyurea therapy, and confers a high risk of death. Large trials evaluating the effects of treatment for pulmonary hypertension in the sickle cell anemia population are indicated.

scholarly journals Qualidade de vida dos portadores de doença falciforme

2019 ◽  
Vol 13 (2) ◽  
pp. 24
Author(s):  
Kamila Tuany Lacerda Leão Lima ◽  
João Otávio Ferreira Pereira ◽  
Paulo Roberto De Melo Reis ◽  
Keila Correia De Alcântara ◽  
Flávia Melo Rodrigues
Keyword(s):  
Quality Of Life ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Functional Capacity ◽  
Sickle Cell Anemia ◽  
Physical Aspect ◽  
Cell Disease ◽  
Calidad De Vida ◽  
Sf 36

RESUMOObjetivo: avaliar a qualidade de vida de portadores de células falciformes atendidos pelo Programa de Anemia Falciforme. Método: trata-se de um estudo quantitativo, descritivo e analítico em 20 portadores de anemia falciforme e 40 indivíduos não falciformes. Coletaram-se os dados por meio de entrevistas no período entre fevereiro a maio de 2015. Avaliou-se a qualidade de vida por meio de SF-36 e WHOQOL-BREF. Apresentaram-se os resultados em forma de tabelas. Resultados: constata-se que a maioria dos pacientes com doença falciforme se declara como negros e castanhos e com baixo nível de escolaridade; os aspectos físicos e a capacidade funcional tiveram os piores resultados e, com a idade, o aspecto físico se torna mais comprometido. Mostrou-se, pelo questionário SF-36, que, entre os escores, os indivíduos com DF apresentavam dor, capacidade funcional, vitalidade, aspectos físicos, emocionais e de saúde mental como os mais prejudicados em relação ao grupo de pacientes sem DF. Conclusão: apresentou-se, pela avaliação WHOQOL-BREF, comprometimento significativo da qualidade de vida física e geral entre os pacientes com DF; já os participantes com doença falciforme sofrem um impacto negativo na qualidade de vida, o que interfere e influencia a saúde dessas pessoas. Descritores: Qualidade de Vida; Doença Crônica; Perfil de Impacto da Doença; Anemia Falciforme; Anemia Hemolítica; Eritrócitos. ABSTRACT Objective: to evaluate the quality of life of sickle cell patients treated by the Sickle Cell Anemia Program. Method: this is a quantitative, descriptive and analytical study in 20 patients with sickle cell anemia and 40 non-sickle individuals. Data was collected through interviews between February and May 2015. Quality of life was evaluated through SF-36 and WHOQOL-BREF. Results were presented in the form of tables. Results: the majority of patients with sickle cell disease declare themselves as black and brown with a low level of schooling; the physical aspects and the functional capacity had the worst results and, with age, the physical aspect becomes more compromised. The SF-36 questionnaire showed that, among the scores, individuals with FD presented pain, functional capacity, vitality, physical, emotional and mental health aspects as the most impaired in relation to the group of patients without SCD. Conclusion: the WHOQOL-BREF evaluation showed a significant impairment of physical and general quality of life among patients with DF; participants with sickle-cell disease have a negative impact on quality of life, which interferes with and influences the health of these people. Descritores: Quality of Life; Chronic Disease; Sickness Impact Profile; Sickle Cell Anemia; Anemia Hemolytic; Erythrocytes.RESUMEN Objetivo: evaluar la calidad de vida de portadores de células falciformes atendidos por el Programa de Anemia Falciforme. Método: se trata de un estudio cuantitativo, descriptivo y analítico en 20 portadores de anemia falciforme y 40 individuos no falciformes. Se recogieron los datos a través de entrevistas en el período entre febrero a mayo de 2015. Se evaluó la calidad de vida por medio de SF-36 y WHOQOL-BREF. Se presentaron los resultados en forma de tablas. Resultados: se constata que la mayoría de los pacientes con enfermedad falciforme se declara como negros y castaños y con bajo nivel de escolaridad; los aspectos físicos y la capacidad funcional tuvieron los peores resultados y, con la edad, el aspecto físico se vuelve más comprometido. Se mostró, por el cuestionario SF-36, que entre los escores, los individuos con DF presentaban dolor, capacidad funcional, vitalidad, aspectos físicos, emocionales y de salud mental como los más perjudicados en relación al grupo de pacientes sin DF. Conclusión: se presentó, por la evaluación WHOQOL-BREF, un compromiso significativo de la calidad de vida física y general entre los pacientes con DF; ya los participantes con enfermedad falciforme sufren un impacto negativo en la calidad de vida, lo que interfiere e influye en la salud de esas personas. Descritores: Calidad de Vida; Enfermedad Crónica; Perfil de Impacto de la Enfermedad; Anemia de Células falciformes; Anemia Hemolítica; Eritrocitos. 

scholarly journals CO‑PRESENCE OF FACTOR V LEIDEN G1691A, MTHFR C677T AND XMN‑1 − 158 GΓ (C → T) IN SICKLE CELL PATIENTS

2016 ◽  
Vol 68 (1) ◽  
pp. 73
Author(s):  
Sanjay Pandey ◽  
Rahasya Mani Mishra ◽  
Sweta Pandey ◽  
Renu Saxena
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Vascular Complications ◽  
Factor V Leiden ◽  
Mthfr C677t ◽  
Factor V ◽  
Cell Disease ◽  
Platelet Activity ◽  
Coagulation Inhibitors

<p>Vascular complications are an important and perplexing aspect of the clinical spectrum of sickle cell anemia. Patients with sickle cell disease show activation of the blood coagulation, fibrinolytic systems, increased platelet activity and consumption of coagulation inhibitors during vaso‑occlusive crises.</p>

Comprehensive Handbook of Childhood Cancer and Sickle Cell Disease

2006 ◽  
Keyword(s):  
Quality Of Life ◽  
Sickle Cell Disease ◽  
Childhood Cancer ◽  
Children And Adolescents ◽  
Peer Relationships ◽  
Sickle Cell ◽  
Cell Disease ◽  
Life Issues ◽  
Art Research

Over recent decades, tremendous advances in the prevention, medical treatment, and quality of life issues in children and adolescents surviving cancer have spawned a host of research on pediatric psychosocial oncology. This important volume fulfills the clear need for an up-to-date, comprehensive handbook for practitioners that delineates the most recent research in the field--the first of its kind in over a decade. Over 60 renowned authors have been assembled to provide a thorough presentation of the state-of-the art research and literature, with topics including: -Neuropsychological effects of chemotherapy and radiation therapy -Bone marrow transplantation -Important issues about quality of life during and following treatment -Collaborative research among child-focused psychologists -Standards of psychological care for children and adolescents -Stress and coping in the pediatric cancer experience -The role of family and peer relationships The Comprehensive Handbook of Childhood Cancer and Sickle Cell Disease represents both multidisciplinary and international efforts, an alliance between physicians and parents, and a combination of research and service. With a wealth of information of great interest to patients and their families, this volume will also be a welcome resource to the psychologists, psychiatrists, pediatricians, oncologists, nurses, and social workers who confront these issues as they help children and their families through the treatment, recovery, and grieving processes.

Health-related quality of life and neuropathic pain in sickle cell disease in Jamaica

2021 ◽  
pp. 101107
Author(s):  
Rachel Bartlett ◽  
Zachary Ramsay ◽  
Amza Ali ◽  
Justin Grant ◽  
Angela Rankine-Mullings ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Neuropathic Pain ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Health Related Quality ◽  
Cell Disease ◽  
Related Quality ◽  
Health Related

scholarly journals Is there a role for selective vasodilation in the management of sickle cell disease?

Blood ◽  
1988 ◽  
Vol 71 (3) ◽  
pp. 597-602 ◽  
Author(s):  
GP Rodgers ◽  
MS Roy ◽  
CT Noguchi ◽  
AN Schechter
Keyword(s):  
Blood Flow ◽  
Steady State ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Microvascular Obstruction ◽  
Controlled Study ◽  
Control Group ◽  
Cell Disease ◽  
Retinal Arteriolar

Abstract To test the hypothesis that microvascular obstruction to blood flow at the level of the arteriole may be significant in individuals with sickle cell anemia, the ophthalmologic effects of orally administered nifedipine were monitored in 11 steady-state patients. Three patients with evidence of acute peripheral retinal arteriolar occlusion displayed a prompt reperfusion of the involved segment. Two other patients showed fading of retroequatorial red retinal lesions. Color vision performance was improved in six of the nine patients tested. The majority of patients also demonstrated a significant decrease in the amount of blanching of the conjunctiva which reflects improved blood flow to this frequently involved area. Such improvements were not observable in a control group of untreated stable sickle cell subjects. These findings support the hypothesis that inappropriate vasoconstriction or frank vasospasm may be a significant factor in the pathogenesis of the microvascular lesions of sickle cell disease and, further, that selective microvascular entrapment inhibition may offer an additional strategy to the management of this disorder. We believe a larger, placebo-controlled study with nifedipine and similar agents is warranted.

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