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1.
Clin Lab ; 67(8)2021 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-34383420

RESUMO

BACKGROUND: Sickle cell disease (SCD) is a common hematological genetic disorder in Saudi Arabia, Africa, the Mediterranean region, and India. The present study aimed to characterize ßS haplotypes found in the Jazan region, Saudi Arabia. METHODS: One hundred sickle cell trait (SCT) individuals, diagnosed during their visit to the premarital screening clinic at King Fahad Central Hospital, were included in the study. Molecular analysis was carried out by polymerase chain reaction (PCR) and six polymorphic sites of the ß-globin gene were analyzed using restriction endonucleases Hind II, Xmn-I, Hind III, and Ava II. RESULTS: The results of the current study revealed the presence of five typical haplotypes in which Benin, Bantu, and Senegal were found in homozygous state with 29%, 3% and 1% frequencies, respectively. Interestingly, 29% of the studied population showed atypical haplotypes in heterozygous state and 2% in homozygous state for the first time in Jazan region. CONCLUSIONS: In addition to the typical haplotypes, high frequency of atypical haplotypes in this study indicates a diverse genetic mechanism that might have a crucial effect on the severity of SCD in this region. Therefore, considering this study in a cohort population with SCD in Jazan region may provide more indepth details about the correlation between haplotypes and the clinical manifestation of the disease.


Assuntos
Anemia Falciforme , Globinas beta , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Haplótipos , Hemoglobina Falciforme/genética , Humanos , Prevalência , Arábia Saudita/epidemiologia , Globinas beta/genética
2.
Int J Public Health ; 66: 629338, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34335138

RESUMO

Objectives: Newborn screening in the United States and Europe allows early identification of congenital disorders but does not yet exist in most low-resource settings, especially in sub-Saharan Africa. Newborn screening can identify multiple inherited hematological disorders, but feasibility and effectiveness for Africa are not fully determined. Methods: Surplus dried blood spot collected in Central Malawi through the HIV Early Infant Diagnosis surveillance program were repurposed and tested by isoelectric focusing for sickle cell disease and trait. Additional genetic testing identified G6PD deficiency and alpha thalassemia. Results: Testing of 10,529 cards revealed an overall sickle cell trait prevalence of 7.0% (range 3.9-9.7% by district); 10 of 14 infants identified with sickle cell disease (prevalence 0.1%) were located and received care at a specialized clinic. Subsequent testing of 1,329 randomly selected cards identified alpha thalassemia trait in 45.7% of samples, and G6PD deficiency in 20.4% of males and 3.4% of females, with 29.0% of females as heterozygous carriers. Conclusion: Inherited hematological disorders are common in Central Malawi; early identification through newborn screening can improve clinical outcomes and should be supported throughout Africa.


Assuntos
Anemia Falciforme , Doenças Hematológicas , Triagem Neonatal , Anemia Falciforme/diagnóstico , Feminino , Deficiência de Glucosefosfato Desidrogenase/diagnóstico , Deficiência de Glucosefosfato Desidrogenase/genética , Doenças Hematológicas/diagnóstico , Doenças Hematológicas/genética , Humanos , Recém-Nascido , Malaui/epidemiologia , Masculino , Estudos Prospectivos , Talassemia alfa/diagnóstico , Talassemia alfa/genética
3.
BMC Pediatr ; 21(1): 296, 2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-34210267

RESUMO

BACKGROUND: Newborn screening (NBS) for sickle cell disease incidentally identifies heterozygous carriers of hemoglobinopathy mutations. In Ontario, Canada, these carrier results are not routinely disclosed, presenting an opportunity to investigate the potential health implications of carrier status. We aimed to compare rates of health services use among children identified as carriers of hemoglobinopathy mutations and those who received negative NBS results. METHODS: Eligible children underwent NBS in Ontario from October 2006 to March 2010 and were identified as carriers or as screen-negative controls, matched to carriers 5:1 based on neighbourhood and timing of birth. We used health care administrative data to determine frequencies of inpatient hospitalizations, emergency department (ED) visits, and physician encounters through March 2012, using multivariable negative binomial regression to compare rates of service use in the two cohorts. We analyzed data from 4987 carriers and 24,935 controls. RESULTS: Adjusted incidence rate ratios (95% CI) for service use in carriers versus controls among children < 1 year of age were: 1.11 (1.06-1.17) for ED visits; 0.97 (0.89-1.06) for inpatient hospitalization; and 1.02 (1.00-1.04) for physician encounters. Among children ≥1 year of age, adjusted rate ratios were: 1.03 (0.98-1.07) for ED visits; 1.14 (1.03-1.25) for inpatient hospitalization and 0.92 (0.90-0.94) for physician encounters. CONCLUSIONS: While we identified statistically significant differences in health services use among carriers of hemoglobinopathy mutations relative to controls, effect sizes were small and directions of association inconsistent across age groups and health service types. Our findings are consistent with the assumption that carrier status is likely benign in early childhood.


Assuntos
Anemia Falciforme , Triagem Neonatal , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Anemia Falciforme/genética , Criança , Pré-Escolar , Estudos de Coortes , Serviço Hospitalar de Emergência , Serviços de Saúde , Hospitalização , Humanos , Recém-Nascido , Mutação , Ontário/epidemiologia
4.
Emerg Med Clin North Am ; 39(3): 555-571, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34215402

RESUMO

Pediatric hematologic and oncologic emergencies are in 3 major categories: complications of hematologic disorders, emergencies associated with the new onset of cancers, and treatment-associated oncologic emergencies. The overall number of these patients remains low; however, the mortality associated with these diseases remains high despite significant advances in management. This article presents a review of the most commonly encountered pediatric hematologic and oncologic complications that emergency physicians and providers need to know.


Assuntos
Anemia Falciforme , Antineoplásicos/efeitos adversos , Neoplasias , Púrpura Trombocitopênica Idiopática , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Anemia Falciforme/terapia , Criança , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/diagnóstico , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/terapia , Humanos , Incidência , Neoplasias/diagnóstico , Neoplasias/epidemiologia , Neoplasias/terapia , Medicina de Emergência Pediátrica , Prevalência , Púrpura Trombocitopênica Idiopática/diagnóstico , Púrpura Trombocitopênica Idiopática/epidemiologia , Púrpura Trombocitopênica Idiopática/terapia
6.
Ann Hematol ; 100(8): 1921-1927, 2021 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-34125262

RESUMO

The clinical and phenotypic heterogeneity of patients with sickle cell anemia (SCA) is influenced by environmental and genetic factors. Several genetic modifiers, such as the KLOTHO (KL) gene, have been associated with SCA clinical outcomes. The KL gene and its encoded proteins are implicated in important biological pathways, which affect the disease's pathophysiology, such as expression of adhesion molecules VCAM-1 and ICAM-1, oxidative stress, and nitric oxide biology. Here, we evaluated the clinical relevance of two polymorphisms found on the KL gene (rs685417 and rs211239) in 588 unrelated patients with SCA. Genotyping analyses were performed using the TaqMan system. The KL rs211239 was associated with increased number of vaso-occlusive crisis (VOCs) per year (P = 0.001), while KL rs685417 was associated with increased frequency of stroke (P = 0.034), priapism (P = 0.011), number of complications (P = 0.019), and with a lower incidence of priapism (P = 0.036). Additionally, the associations with VOCs, stroke, and priapism remained consistent in multivariate analyses (P < 0.05). Our data highlight the clinical importance of KL in SCA.


Assuntos
Anemia Falciforme/complicações , Anemia Falciforme/genética , Glucuronidase/genética , Polimorfismo de Nucleotídeo Único , Adolescente , Adulto , Idoso , Anemia Falciforme/diagnóstico , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Acidente Vascular Cerebral/etiologia , Acidente Vascular Cerebral/genética , Adulto Jovem
8.
Photodiagnosis Photodyn Ther ; 34: 102276, 2021 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-33798750

RESUMO

Spectral diagnostic screening for sickle cell disease was carried out on volunteer blood samples (N = 100). The samples were subjected to different diagnostic methods including conventional complete blood count (CBC), hemoglobin electrophoresis (HBE) and spectral diagnosis. For the spectral diagnostic method, we discriminated three different characteristic spectral features. In total, 15 samples were sickle cell trait (SCT), 34 samples were sickle cell disease (SCD), and the rest of the samples (N = 51) were normal controls. The spectral discrimination of the three different sets of samples was distinguished on the quantification of fluorescent biomolecules such as tyrosine, tryptophan, NADH, FAD, and porphyrins. The results were compared with the conventional standard CBC and capillary electrophoresis findings. The spectral diagnosis method exhibited a sensitivity and specificity greater than 90 % for the tested samples. This technique requires only 5 mL blood samples, has an analysis time of 20 min, exhibits high accuracy and may be used in small clinics in remote villages.


Assuntos
Anemia Falciforme , Fotoquimioterapia , Traço Falciforme , Anemia Falciforme/diagnóstico , Humanos , Fotoquimioterapia/métodos , Fármacos Fotossensibilizantes , Traço Falciforme/diagnóstico , Espectrometria de Fluorescência
10.
Toxins (Basel) ; 13(2)2021 02 17.
Artigo em Inglês | MEDLINE | ID: mdl-33671422

RESUMO

Sickle cell disease (SCD) is one of the most common autosomal recessive disorders in the world. Due to functional asplenia, a dysfunctional antibody response, antibiotic drug resistance and poor response to immunization, SCD patients have impaired immunity. A leading cause of hospitalization and death in SCD patients is the acute chest syndrome (ACS). This complication is especially manifested upon infection of SCD patients with Streptococcus pneumoniae (Spn)-a facultative anaerobic Gram-positive bacterium that causes lower respiratory tract infections. Spn has developed increased rates of antibiotics resistance and is particularly virulent in SCD patients. The primary defense against Spn is the generation of reactive oxygen species (ROS) during the oxidative burst of neutrophils and macrophages. Paradoxically, Spn itself produces high levels of the ROS hydrogen peroxide (H2O2) as a virulence strategy. Apart from H2O2, Spn also secretes another virulence factor, i.e., the pore-forming exotoxin pneumolysin (PLY), a potent mediator of lung injury in patients with pneumonia in general and particularly in those with SCD. PLY is released early on in infection either by autolysis or bacterial lysis following the treatment with antibiotics and has a broad range of biological activities. This review will discuss recent findings on the role of pneumococci in ACS pathogenesis and on strategies to counteract the devastating effects of its virulence factors on the lungs in SCD patients.


Assuntos
Síndrome Torácica Aguda/microbiologia , Anemia Falciforme/complicações , Peróxido de Hidrogênio/metabolismo , Pneumonia Pneumocócica/microbiologia , Streptococcus pneumoniae/metabolismo , Estreptolisinas/metabolismo , Fatores de Virulência/metabolismo , Síndrome Torácica Aguda/diagnóstico , Síndrome Torácica Aguda/tratamento farmacológico , Anemia Falciforme/diagnóstico , Animais , Antibacterianos/uso terapêutico , Proteínas de Bactérias/metabolismo , Interações Hospedeiro-Patógeno , Humanos , Pneumonia Pneumocócica/diagnóstico , Pneumonia Pneumocócica/tratamento farmacológico , Prognóstico , Fatores de Risco , Streptococcus pneumoniae/efeitos dos fármacos , Streptococcus pneumoniae/patogenicidade , Virulência
11.
Anal Chem ; 93(11): 4832-4840, 2021 03 23.
Artigo em Inglês | MEDLINE | ID: mdl-33689292

RESUMO

Sickle cell disease (SCD) is a group of common, life-threatening disorders caused by a point mutation in the ß globin gene. Early diagnosis through newborn and early childhood screening, parental education, and preventive treatments are known to reduce mortality. However, the cost and complexity of conventional diagnostic methods limit the feasibility of early diagnosis for SCD in resource-limited areas worldwide. Although several point-of-care tests are commercially available, most are antibody-based tests, which cannot be used in patients who have recently received a blood transfusion. Here, we describe the development of a rapid, low-cost nucleic acid test that uses real-time fluorescence to detect the point mutation encoding hemoglobin S (HbS) in one round of isothermal recombinase polymerase amplification (RPA). When tested with a set of clinical samples from SCD patients and healthy volunteers, our assay demonstrated 100% sensitivity for both the ßA globin and ßS globin alleles and 94.7 and 97.1% specificities for the ßA globin allele and ßS globin allele, respectively (n = 91). Finally, we demonstrate proof-of-concept sample-to-answer genotyping of genomic DNA from capillary blood using an alkaline lysis procedure and direct input of diluted lysate into RPA. The workflow is performed in <30 min at a cost of <$5 USD on a commercially available benchtop fluorimeter and an open-source miniature fluorimeter. This study demonstrates the potential utility of a rapid, sample-to-answer nucleic acid test for SCD that may be implemented near the point of care and could be adapted to other disease-causing point mutations in genomic DNA.


Assuntos
Anemia Falciforme , Recombinases , Alelos , Anemia Falciforme/diagnóstico , Anemia Falciforme/genética , Pré-Escolar , Hemoglobina Falciforme/análise , Humanos , Recém-Nascido , Técnicas de Amplificação de Ácido Nucleico , Sistemas Automatizados de Assistência Junto ao Leito , Sensibilidade e Especificidade
12.
Rev Paul Pediatr ; 39: e2019365, 2021.
Artigo em Inglês, Português | MEDLINE | ID: mdl-33566985

RESUMO

OBJECTIVE: To describe two cases of unusual variants of sickle cell disease. CASE DESCRIPTION: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis. COMMENTS: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.


Assuntos
Anemia Falciforme/diagnóstico , Anemia Falciforme/genética , Eletroforese das Proteínas Sanguíneas/métodos , Hemoglobinopatias/genética , Osteomielite/diagnóstico , Administração Intravenosa , Administração Oral , Anemia Falciforme/complicações , Anemia Falciforme/epidemiologia , Antibacterianos/administração & dosagem , Antibacterianos/uso terapêutico , Antidrepanocíticos/administração & dosagem , Antidrepanocíticos/uso terapêutico , Criança , Feminino , Hemoglobinopatias/sangue , Hemoglobinopatias/diagnóstico , Heterozigoto , Humanos , Hidroxiureia/administração & dosagem , Hidroxiureia/uso terapêutico , Imageamento por Ressonância Magnética/métodos , Masculino , Programas de Rastreamento/ética , Programas de Rastreamento/normas , Osteomielite/tratamento farmacológico , Osteomielite/etiologia , Paquistão/etnologia , Prevalência , Radiografia/métodos , Resultado do Tratamento
13.
Curr Opin Hematol ; 28(3): 164-170, 2021 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-33631783

RESUMO

PURPOSE OF REVIEW: Small amounts of fetal hemoglobin can be expressed in a subset of adult red blood cells called F-cells. This review examines the potential mechanisms and clinical implications of the heterogeneity of fetal hemoglobin expression. RECENT FINDINGS: Although the heterocellular nature of fetal hemoglobin expression in adult red blood cells has been noted for over 70 years, the molecular basis of this phenomenon has been unclear. Recent discoveries of novel regulators of fetal hemoglobin as well as technological advances have shed new light on these cells. SUMMARY: Fetal hemoglobin reactivation in adult red blood cells through genetic or pharmacological approaches can involve both increasing the number of F-cells and cellular fetal hemoglobin content. New technologies enable the study and eventually the improvement of these parameters in patients with sickle cell disease and ß-thalassemia.


Assuntos
Eritrócitos/metabolismo , Hemoglobina Fetal/biossíntese , Hemoglobina Fetal/genética , Regulação da Expressão Gênica , Heterogeneidade Genética , Adulto , Fatores Etários , Anemia Falciforme/sangue , Anemia Falciforme/diagnóstico , Anemia Falciforme/tratamento farmacológico , Anemia Falciforme/genética , Animais , Gerenciamento Clínico , Suscetibilidade a Doenças , Eritrócitos/efeitos dos fármacos , Regulação da Expressão Gênica/efeitos dos fármacos , Humanos , Talassemia beta/sangue , Talassemia beta/diagnóstico , Talassemia beta/genética , Talassemia beta/terapia
14.
Curr Opin Hematol ; 28(3): 171-176, 2021 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-33631786

RESUMO

PURPOSE OF REVIEW: Sickle cell disease (SCD) is a hemolytic anemia caused by a point mutation in the ß globin gene leading to the expression of an abnormal hemoglobin (HbS) that polymerizes under hypoxic conditions driving red cell sickling. Circulating red cells have been extensively characterized in SCD, as their destruction and removal from peripheral blood are the major contributors to anemia. However, few reports showed cellular abnormalities during erythropoiesis in SCD, suggesting that anemia could also be influenced by defects of central origin. RECENT FINDINGS: El Hoss et al. demonstrated ineffective erythropoiesis (IE) in SCD and deciphered the molecular mechanism underlying cell death during the hemoglobin synthesis phase of terminal differentiation. They showed that HbS polymerization induces apoptosis of differentiating erythroblasts and that fetal hemoglobin rescues these cells through its antipolymerization function. SUMMARY: IE is the major cause of anemia in ß-thalassemia patients, and it is generally surmised that it contributes little to anemia of SCD. Recent reports demonstrate the occurrence of IE in SCD patients and show important alterations in the hematopoietic and erythroid niches, both in SCD patients and in the humanized Townes SCD mouse model. This implies that therapeutic strategies initially designed to improve red cell survival in the circulation of SCD patients would also positively impact erythropoiesis and bone marrow cellularity.


Assuntos
Anemia Falciforme/sangue , Anemia Falciforme/etiologia , Eritropoese , Anemia Falciforme/diagnóstico , Anemia Falciforme/terapia , Animais , Apoptose , Microambiente Celular , Gerenciamento Clínico , Modelos Animais de Doenças , Suscetibilidade a Doenças , Índices de Eritrócitos , Eritrócitos/metabolismo , Eritropoese/genética , Hemoglobina Fetal/química , Hemoglobina Fetal/genética , Hemoglobina Fetal/metabolismo , Regulação da Expressão Gênica , Hemoglobinas/genética , Humanos , Mutação , Multimerização Proteica , Globinas beta/genética
15.
Haematologica ; 106(6): 1535-1544, 2021 06 01.
Artigo em Inglês | MEDLINE | ID: mdl-33626864

RESUMO

Median life expectancy of patients with sickle cell disease has increased to up to 55 years but there are still frequent cases of premature death, mostly in patients with pre-existing organ failure such as pulmonary hypertension, kidney injury, and cerebral vasculopathy. Most organ injuries remain asymptomatic for a long time and can only be detected through early systematic screening. Protocols combining assessment of velocities on transcranial Doppler and regular transfusions in patients with abnormal velocities have been demonstrated to dramatically reduce the risk of stroke. In contrast, no consensus has been reached on systematic screening or therapy for silent cerebral infarcts. The prognostic significance of increased tricuspid regurgitant jet velocity on echocardiography has not yet been identified in children, whereas increased albuminuria is a good predictor of kidney injury. Finally, screening for hip and eye disorder is recommended; however, different countries adopt different screening strategies. Hydroxyurea is probably of potential benefit in preventing chronic organ damage but this requires further study in order to be fully demonstrated. Efficacy and safety of the other new drugs available are also under investigation.


Assuntos
Anemia Falciforme , Acidente Vascular Cerebral , Anemia Falciforme/complicações , Anemia Falciforme/diagnóstico , Anemia Falciforme/epidemiologia , Antidrepanocíticos , Transfusão de Sangue , Criança , Humanos , Hidroxiureia
17.
Hematology ; 26(1): 199-205, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33594960

RESUMO

BACKGROUND: The Democratic Republic of the Congo (DRC) is the third most affected country worldwide by sickle cell disease (SCD). However, this disease is still orphaned in the country; large-scale control actions are rare, and little is known about its management. OBJECTIVE: To assess current practices in the management of SCD in Kisangani, DRC. METHODS: This cross-sectional study was conducted in six health facilities in Kisangani. It involved 198 presumed sickle cell patients attending the above health facilities. The study focused on the sociodemographic and clinical data of the participants, obtained through a clinical examination and their medical records. Diagnostic confirmation of SCD was made by high-performance liquid chromatography coupled to mass spectrometry. Data were analyzed using SPSS 20.0. RESULTS: The diagnosis of SCD was confirmed in 194 (98.0%; 95% CI: 94.9-99.2) participants, while it was not confirmed in 4 (2.0%; 95% CI: 0.8-5.1) participants. The diagnosis was mainly made by the Emmel test (42.9%). 45.8% of participants had previously been transfused with the blood of their parents. Folic acid was taken by 48.5% of participants and the previous intake of hydroxyurea was reported in 5.1% of participants. The participants vaccinated against Pneumococcus were 13.6% and against Haemophilus influenzae type b 28.3%. Penicillin prophylaxis was received by only 1.5% and malaria prophylaxis by 11.6% of participants. CONCLUSION: Standard-care practices for SCD patients in Kisangani are insufficient. The Congolese government should regard this disease as a health priority and consider actions to improve its management.


Assuntos
Anemia Falciforme/epidemiologia , Padrões de Prática Médica , Adolescente , Adulto , Idoso , Anemia Falciforme/diagnóstico , Anemia Falciforme/etiologia , Anemia Falciforme/terapia , Biomarcadores , Criança , Pré-Escolar , Cromatografia Líquida de Alta Pressão , Tomada de Decisão Clínica , Comorbidade , Estudos Transversais , República Democrática do Congo/epidemiologia , Gerenciamento Clínico , Feminino , Pesquisas sobre Serviços de Saúde , Humanos , Masculino , Espectrometria de Massas , Pessoa de Meia-Idade , Prevalência , Inquéritos e Questionários , Adulto Jovem
18.
JAMA Ophthalmol ; 139(3): 330-337, 2021 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-33538815

RESUMO

Importance: Determination of retinal thinning rates may help to identify patients who are at risk of progression of sickle cell retinopathy. Objective: To assess the rates of macular thinning in adults with and without sickle cell retinopathy using spectral-domain optical coherence tomography (OCT) and to identify ocular and systemic risk factors associated with retinal thinning. Design, Setting, and Participants: This longitudinal prospective case-control study enrolled adult participants from a university-based retina subspecialty clinic between February 11, 2009, and July 3, 2019. The study was designed in autumn 2008 and conducted from February 2, 2009, to July 3, 2020. Participants with sickle cell retinopathy (sickle cell group) were matched by age and race with participants without sickle cell retinopathy (control group). Participants received annual spectral-domain OCT and clinical examinations. Those with at least 1 year of follow-up by July 3, 2020, were included in the analysis. Data were analyzed from February 2, 2009, to July 3, 2020. Main Outcomes and Measures: The primary outcome was comparison of spectral-domain OCT measurements from early-treatment diabetic retinopathy study subfield rates of retinal thinning between eyes with and without sickle cell retinopathy and between different sickle cell hemoglobin subtypes. The secondary outcome was identification of ocular and systemic risk factors associated with rates of retinal thinning. Results: Among 370 adults (711 eyes) enrolled in the study, 310 participants (606 eyes) had sickle cell retinopathy, and 60 participants (105 eyes) did not. Of those, 175 of 310 participants (56.5%; 344 of 606 eyes [56.8%]; mean [SD] age, 37.8 [12.8] years; 126 women [72.0%]) in the sickle cell group and 31 of 60 participants (51.7%; 46 of 105 eyes [43.8%]; mean [SD] age, 59 [15.4] years; 22 women [71.0%]) in the control group had at least 1 year of clinical and spectral-domain OCT follow-up data from baseline. The mean (SD) follow-up was 53.7 (32.6) months for the sickle cell group and 54.6 (34.9) months for the control group. Rates of macular thinning in the sickle cell group were significantly higher than those in the control group for the inner nasal (difference, -1.18 µm per year; 95% CI, -1.71 to -0.65 µm per year), inner superior (difference, -1.03 µm per year; 95% CI, -1.78 to -0.29 µm per year), inner temporal (difference, -0.61 µm per year; 95% CI, -1.16 to -0.07 µm per year), and outer nasal (difference, -0.41 µm per year; 95% CI, -0.80 to -0.03 µm per year) quadrants. Patients with sickle cell hemoglobin SC and sickle cell hemoglobin ß-thalassemia subtypes had higher rates of retinal thinning than those with the sickle cell hemoglobin SS subtype. Risk factors associated with greater rates of retinal thinning included participant age, stage of retinopathy, previous stroke, and presence of hypertension, acute chest syndrome, or diabetes. Hydroxyurea therapy was associated with decreased rates of retinal thinning and may be a protective factor. Conclusions and Relevance: In this study, rates of retinal thinning were higher among participants with sickle cell retinopathy compared with those without sickle cell retinopathy, and thinning rates increased with participant age and stage of retinopathy. These findings suggest that identifying anatomic worsening of sickle cell maculopathy through spectral-domain OCT may be a useful parameter to evaluate the progression of sickle cell retinopathy.


Assuntos
Anemia Falciforme/complicações , Macula Lutea/patologia , Doenças Retinianas/diagnóstico , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto , Anemia Falciforme/diagnóstico , Estudos de Casos e Controles , Progressão da Doença , Feminino , Seguimentos , Humanos , Masculino , Estudos Prospectivos , Doenças Retinianas/etiologia
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