Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 3.380
Filtrar
1.
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
2.
Blood Adv ; 5(12): 2586-2592, 2021 06 22.
Artigo em Inglês | MEDLINE | ID: mdl-34152394

RESUMO

The COVID-19 pandemic has created major disruptions in health care delivery, including a severe blood shortage. The inventory of Rh and K antigen-negative red cell units recommended for patients with hemoglobinopathies became alarmingly low and continues to be strained. Because patients with sickle cell disease requiring chronic red cell exchange (RCE) incur a large demand for red cell units, we hypothesized that implementation of 2 measures could reduce blood use. First, obtaining the pretransfusion hemoglobin S (HbS) results by procedure start time would facilitate calculation of exact red cell volume needed to achieve the desired post-RCE HbS. Second, as a short-term conservation method, we identified patients for whom increasing the targeted end procedure hematocrit up to 5 percentage points higher than the pretransfusion level (no higher than 36%) was not medically contraindicated. The goal was to enhance suppression of endogenous erythropoiesis and thereby reduce the red cell unit number needed to maintain the same target HbS%. These 2 measures resulted in an 18% reduction of red cell units transfused to 50 patients undergoing chronic RCE during the first 6 months of the COVID-19 pandemic. Despite reduction of blood use, pretransfusion HbS% target goals were maintained and net iron accumulation was low. Both strategies can help alleviate a shortage of Rh and K antigen-negative red cells, and, more generally, transfusing red cell units based on precise red cell volume required can optimize patient care and judicious use of blood resources.


Assuntos
Anemia Falciforme , COVID-19 , Anemia Falciforme/terapia , Transfusão de Eritrócitos , Humanos , Pandemias , SARS-CoV-2
3.
Blood Adv ; 5(12): 2586-2592, 2021 06 22.
Artigo em Inglês | MEDLINE | ID: covidwho-1277907

RESUMO

The COVID-19 pandemic has created major disruptions in health care delivery, including a severe blood shortage. The inventory of Rh and K antigen-negative red cell units recommended for patients with hemoglobinopathies became alarmingly low and continues to be strained. Because patients with sickle cell disease requiring chronic red cell exchange (RCE) incur a large demand for red cell units, we hypothesized that implementation of 2 measures could reduce blood use. First, obtaining the pretransfusion hemoglobin S (HbS) results by procedure start time would facilitate calculation of exact red cell volume needed to achieve the desired post-RCE HbS. Second, as a short-term conservation method, we identified patients for whom increasing the targeted end procedure hematocrit up to 5 percentage points higher than the pretransfusion level (no higher than 36%) was not medically contraindicated. The goal was to enhance suppression of endogenous erythropoiesis and thereby reduce the red cell unit number needed to maintain the same target HbS%. These 2 measures resulted in an 18% reduction of red cell units transfused to 50 patients undergoing chronic RCE during the first 6 months of the COVID-19 pandemic. Despite reduction of blood use, pretransfusion HbS% target goals were maintained and net iron accumulation was low. Both strategies can help alleviate a shortage of Rh and K antigen-negative red cells, and, more generally, transfusing red cell units based on precise red cell volume required can optimize patient care and judicious use of blood resources.


Assuntos
Anemia Falciforme , COVID-19 , Anemia Falciforme/terapia , Transfusão de Eritrócitos , Humanos , Pandemias , SARS-CoV-2
4.
Sci Transl Med ; 13(598)2021 06 16.
Artigo em Inglês | MEDLINE | ID: mdl-34135108

RESUMO

Sickle cell disease (SCD) is the most common serious monogenic disease with 300,000 births annually worldwide. SCD is an autosomal recessive disease resulting from a single point mutation in codon six of the ß-globin gene (HBB). Ex vivo ß-globin gene correction in autologous patient-derived hematopoietic stem and progenitor cells (HSPCs) may potentially provide a curative treatment for SCD. We previously developed a CRISPR-Cas9 gene targeting strategy that uses high-fidelity Cas9 precomplexed with chemically modified guide RNAs to induce recombinant adeno-associated virus serotype 6 (rAAV6)-mediated HBB gene correction of the SCD-causing mutation in HSPCs. Here, we demonstrate the preclinical feasibility, efficacy, and toxicology of HBB gene correction in plerixafor-mobilized CD34+ cells from healthy and SCD patient donors (gcHBB-SCD). We achieved up to 60% HBB allelic correction in clinical-scale gcHBB-SCD manufacturing. After transplant into immunodeficient NSG mice, 20% gene correction was achieved with multilineage engraftment. The long-term safety, tumorigenicity, and toxicology study demonstrated no evidence of abnormal hematopoiesis, genotoxicity, or tumorigenicity from the engrafted gcHBB-SCD drug product. Together, these preclinical data support the safety, efficacy, and reproducibility of this gene correction strategy for initiation of a phase 1/2 clinical trial in patients with SCD.


Assuntos
Anemia Falciforme , Compostos Heterocíclicos , Anemia Falciforme/genética , Anemia Falciforme/terapia , Animais , Sistemas CRISPR-Cas/genética , Edição de Genes , Mobilização de Células-Tronco Hematopoéticas , Células-Tronco Hematopoéticas , Humanos , Camundongos , Reprodutibilidade dos Testes , Globinas beta/genética
8.
Am J Case Rep ; 22: e931758, 2021 May 04.
Artigo em Inglês | MEDLINE | ID: covidwho-1215732

RESUMO

BACKGROUND Certain health conditions have been proven to have an effect on the severity of COVID-19, the disease caused by SAR-COV-2. The list of identified comorbid conditions includes hematological diseases, with sickle cell disease (SCD) falling into this category. CASE REPORT This case series examines the history, presentation, and clinical course of 5 patients with SCD who tested positive for SAR-COV-2 during the spring and summer of 2020. These patients experienced COVID-19 severities ranging from a mild cough and congestion to 8-day hospitalizations requiring blood transfusions. CONCLUSIONS While there is still a great amount of research on the interaction between COVID-19 and SCD needed, from this study we have concluded that patients with SCD do not always present with the classic COVID-19 triad of cough, shortness of breath, and fever. Often, these patients present with symptoms of vaso-occlusive crisis (VOC), including severe leg, flank, and chest pain, as was seen in 4 of 5 of our patients. We, and several other researchers, believe that this association between COVID-19 and VOC could be due to COVID-19 triggering inflammatory cytokines (notably IL-6) leading to system-wide inflammation, which induces sickling of the red blood cells. Based on this report, we recommend that SCD patients presenting with VOC who have had exposure to SAR-COV-2 be promptly tested for SAR-COV-2 to guide treatment and reduce mortality and morbidity in this vulnerable population.


Assuntos
Anemia Falciforme/complicações , Dor no Peito/etiologia , Dor no Flanco/etiologia , SARS-CoV-2 , Adulto , Anemia Falciforme/terapia , Transfusão de Sangue , COVID-19/complicações , COVID-19/diagnóstico , Citocinas/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
9.
Blood Adv ; 5(9): 2403-2411, 2021 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-33956057

RESUMO

Recent studies suggest that plerixafor mobilization and apheresis in patients with sickle cell disease (SCD) is safe and can allow collection of sufficient CD34+ hematopoietic stem cell (HSC) collection for clinical gene therapy applications. However, the quantities of plerixafor-mobilized CD34+ cells vary between different SCD patients for unknown reasons. Twenty-three participants with SCD underwent plerixafor mobilization followed by apheresis, processing, and HSC enrichment under a phase 1 safety and efficacy study conducted at 2 institutions. Linear regression or Spearman's correlation test was used to assess the relationships between various hematologic and clinical parameters with total CD34+ cells/kg collected. Median CD34+ cells/kg after 2 or fewer mobilization and apheresis cycles was 4.0 × 106 (range, 1.5-12.0). Similar to what is observed generally, CD34+ yield correlated negatively with age (P < .001) and positively with baseline (P = .003) and preapheresis blood CD34+ cells/µL (P < .001), and baseline white blood cell (P = .01) and platelet counts (P = .03). Uniquely for SCD, CD34+ cell yields correlated positively with the number of days hydroxyurea was held (for up to 5 weeks, P = .01) and negatively with markers of disease severity, including hospitalization frequency within the preceding year (P = .01) and the number of medications taken for chronic pain (P = .002). Unique SCD-specific technical challenges in apheresis were also associated with reduced CD34+ cell collection efficiency and purification. Here, we describe factors that impact plerixafor mobilization success in patients with SCD, confirming known factors as described in other populations in addition to reporting previously unknown disease specific factors in patients with SCD. This trial was registered at www.clinicaltrials.gov as #NCT03226691.


Assuntos
Anemia Falciforme , Compostos Heterocíclicos , Anemia Falciforme/terapia , Benzilaminas , Ciclamos , Fator Estimulador de Colônias de Granulócitos , Mobilização de Células-Tronco Hematopoéticas , Humanos , Índice de Gravidade de Doença
10.
Am J Case Rep ; 22: e931758, 2021 May 04.
Artigo em Inglês | MEDLINE | ID: mdl-33941758

RESUMO

BACKGROUND Certain health conditions have been proven to have an effect on the severity of COVID-19, the disease caused by SAR-COV-2. The list of identified comorbid conditions includes hematological diseases, with sickle cell disease (SCD) falling into this category. CASE REPORT This case series examines the history, presentation, and clinical course of 5 patients with SCD who tested positive for SAR-COV-2 during the spring and summer of 2020. These patients experienced COVID-19 severities ranging from a mild cough and congestion to 8-day hospitalizations requiring blood transfusions. CONCLUSIONS While there is still a great amount of research on the interaction between COVID-19 and SCD needed, from this study we have concluded that patients with SCD do not always present with the classic COVID-19 triad of cough, shortness of breath, and fever. Often, these patients present with symptoms of vaso-occlusive crisis (VOC), including severe leg, flank, and chest pain, as was seen in 4 of 5 of our patients. We, and several other researchers, believe that this association between COVID-19 and VOC could be due to COVID-19 triggering inflammatory cytokines (notably IL-6) leading to system-wide inflammation, which induces sickling of the red blood cells. Based on this report, we recommend that SCD patients presenting with VOC who have had exposure to SAR-COV-2 be promptly tested for SAR-COV-2 to guide treatment and reduce mortality and morbidity in this vulnerable population.


Assuntos
Anemia Falciforme/complicações , Dor no Peito/etiologia , Dor no Flanco/etiologia , SARS-CoV-2 , Adulto , Anemia Falciforme/terapia , Transfusão de Sangue , COVID-19/complicações , COVID-19/diagnóstico , Citocinas/sangue , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
11.
BMC Health Serv Res ; 21(1): 294, 2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-33794895

RESUMO

BACKGROUND: Sickle cell disease (SCD) is a public health problem in the Democratic Republic of Congo. While reference sickle cell centers have been implemented in capital cities of African countries and have proven to be beneficial for SCD patients. In the Democratic Republic of Congo, they have never been set up in remote areas for families with low or very low sources of income. METHOD: A cohort of 143 children with SCD aged 10 years old (IQR (interquartile range): 6-15 years) (sex ratio male/female = 1.3) were clinically followed for 12 months without any specific intervention aside from the management of acute events, and then for 12 months with a monthly medical visit, biological follow-up, and chemoprophylaxis (folic acid/penicillin), adequate fluids and malaria prevention. RESULTS: The median age of patients at the diagnosis of SCD was 2 years (IQR: 1-5). The implementation of standardized and regular follow-ups in a new sickle cell reference center in a remote city showed an increase in the annual mean hemoglobin level from 50 to 70 g/L (p = 0.001), and a decrease in the lymphocyte count and spleen size (p < 0.001). A significant decrease (p < 0.001) in the average annual number of hospitalizations and episodes of vaso-occlusive crises, blood transfusions, infections, and acute chest syndromes were also observed. CONCLUSIONS: The creation of a sickle cell reference center and the regular follow-up of children with sickle cell disease are possible and applicable in the context of a remote city of an African country and represent simple and accessible measures that can reduce the morbimortality of children with sickle cell disease.


Assuntos
Anemia Falciforme , África , Anemia Falciforme/epidemiologia , Anemia Falciforme/terapia , Transfusão de Sangue , Criança , Pré-Escolar , Congo/epidemiologia , Feminino , Hospitalização , Humanos , Lactente , Masculino
13.
Transplant Cell Ther ; 27(2): 167.e1-167.e12, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33830027

RESUMO

Sickle cell disease (SCD) affects more than 300,000 children annually worldwide. Despite improved supportive care, long-term prognosis remains poor. Allogeneic hematopoietic cell transplantation (allo-HCT) is the sole validated curative option, resulting in sustained resolution of the clinical phenotype. The medical literature on allo-HCT for SCD is largely limited to children. Recent studies have evaluated allo-HCT efficacy in adults. Here, we conducted a systematic review/meta-analysis to assess the totality of evidence on the efficacy, or lack thereof, of allo-HCT in treating SCD. We performed a comprehensive literature search using PubMed/Medline, Embase, and Cochrane library databases on November 13, 2019. Four authors independently extracted data on clinical outcomes related to benefits (overall survival [OS] and disease-free survival [DFS]) and harms (acute graft-versus-host disease [aGVHD], chronic graft-versus-host disease [cGVHD], nonrelapse mortality [NRM], and graft failure [GF]). Our search identified a total of 1906 references. Only 33 studies (n= 2853 patients) met our inclusion criteria. We also performed a subset analysis by age. Analyses of all-age groups showed pooled rates of 96% for OS, 90% for DFS, 20% for aGVHD, 10% for cGVHD, 4% for NRM, and 5% for GF. In the pediatric population, pooled rates for OS, DFS, aGVHD, cGVHD, NRM, and GF were 97%, 91%, 26%, 11%, 5%, and 3%, respectively. In adults, pooled rates for OS, DFS, aGVHD, cGVHD, NRM, and GF were 98%, 90%, 7%, 1%, 0%, and 14%, respectively. Our data show that allo-HCT is safe and effective, yielding pooled OS rates exceeding 90%. The high GF rate of 14% in adults is concerning and emphasizes the need to evaluate new strategies.


Assuntos
Anemia Falciforme , Doença Enxerto-Hospedeiro , Transplante de Células-Tronco Hematopoéticas , Adulto , Anemia Falciforme/terapia , Medula Óssea , Criança , Humanos , Condicionamento Pré-Transplante
15.
Transplant Cell Ther ; 27(4): 345-351, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33836889

RESUMO

Sickle cell disease (SCD) is the most common inherited hemoglobin disorder, affecting approximately 100,000 people in the United States. Allogeneic hematopoietic cell transplantation (alloHCT), also known as bone marrow transplant (BMT), is currently the only established curative option for SCD. However, alloHCT is an optional benefit under Medicaid. This study of alloHCT coverage for patients with SCD aims to understand the scope of state Medicaid coverage benefits and BMT financial coordinators' experience working with their state Medicaid programs. States estimated to have more than 50 newborns diagnosed with SCD in 2016 and at least one active BMT Clinical Trials Network (1503 [STRIDE 2], NCT02766465) transplant center (TC) were eligible to participate in this study. Qualitative, semi-structured interviews 30 to 60 minutes in length were conducted with BMT financial coordinators via telephone between May and October 2019. A total of 10 BMT financial coordinators from 10 TCs representing eight states (Florida, Georgia, Illinois, Michigan, New York, Pennsylvania, Texas, and Virginia) participated in the semi-structured interviews. Coordinators in all of the included states reported that alloHCT in children with SCD with a human leukocyte antigen-matched sibling donor was covered by their state Medicaid programs. However, only two states (Florida and Texas) had legislative policies mandating coverage of routine medical costs for patients in clinical trials. TCs in two states (Illinois and Pennsylvania) reported accepting out-of-state Medicaid insurance, but only one state (Michigan) covered both travel and lodging for the patient and one caregiver. Four themes emerged when coordinators were asked about their perspectives and experiences working with their corresponding state Medicaid programs: (1) state Medicaid eligibility criteria based on disability were perceived as being restrictive, and Medicaid reimbursement rates were reported to be low; (2) Medicaid fee-for-service plans were perceived as being more comprehensive and easier to navigate compared to comprehensive managed care (CMC) plans; (3) there is a need to address caregiver and financial assistance beyond the health care costs; and (4) completing the insurance authorization process leading up to alloHCT is critical, including peer-to-peer reviews. There is limited legislative policy to help ensure access to clinical trials and provide out-of-state benefits and travel and lodging for Medicaid enrollees with SCD. These data provide insight into potential areas that could influence changes in policy to enhance access to curative therapy for SCD.


Assuntos
Anemia Falciforme , Transplante de Células-Tronco Hematopoéticas , Anemia Falciforme/terapia , Criança , Florida , Georgia , Humanos , Illinois , Recém-Nascido , Medicaid , Michigan , New York , Pennsylvania , Texas , Estados Unidos , Virginia
16.
MedEdPORTAL ; 17: 11139, 2021 04 02.
Artigo em Inglês | MEDLINE | ID: mdl-33851012

RESUMO

Introduction: Sickle cell disease (SCD), the most common autosomal recessive genetic disorder worldwide, affects nearly every organ of the body and results in accelerated mortality. Nationally, internal medicine physicians lack a complete understanding of morbidity and mortality in this population leading to health care disparities. Methods: We created a 2-hour curriculum consisting of three SCD case vignettes representing common disease complications (acute stroke, acute chest syndrome, and septic shock) with the goal to increase medicine house staff knowledge and confidence in patient management. Residents completed a pretest to assess baseline knowledge and were divided into groups of four to five. Three simulation cases were completed by each group; learners needed to work through a differential diagnosis and describe key management steps. Each group was graded on achieving the 10 critical actions for each case. Following each case, there was a faculty-led debriefing session. Residents repeated the pretest 30 days after completion of the curriculum (posttest). Results: Thirty-six second year internal medicine residents participated in this curriculum. After completing this curriculum, residents improved their test score from 33% (SD = 12%) to 57% (SD = 18%) (p < .0001). Additionally, self-reported confidence in management scores increased from 2.6 (SD = 0.8) in the pretest to 3.5 (SD = 0.4) in the posttest (p = .02) on a 5-point Likert scale (1 = not very confident, 5 = very confident). Discussion: Use of a simulation curriculum increased knowledge and confidence of internal medicine residents in the management of critical illness in patients with SCD.


Assuntos
Anemia Falciforme , Internato e Residência , Anemia Falciforme/complicações , Anemia Falciforme/terapia , Competência Clínica , Simulação por Computador , Currículo , Humanos
17.
Lancet Neurol ; 20(5): 398-408, 2021 05.
Artigo em Inglês | MEDLINE | ID: mdl-33894194

RESUMO

Sickle cell disease is associated with progressive and increased neurological morbidity throughout the lifespan. In people with sickle cell anaemia (the most common and severe type of sickle cell disease), silent cerebral infarcts are found in more than a third of adolescents by age 18 years and roughly half of young adults by age 30 years, many of whom have cognitive impairment despite having few or no conventional stroke risk factors. Common anatomical neuroimaging in individuals with sickle disease can assess structural brain injury, such as stroke and silent cerebral infarcts; however, emerging advanced neuroimaging methods can provide novel insights into the pathophysiology of sickle cell disease, including insights into the cerebral haemodynamic and metabolic contributors of neurological injury. Advanced neuroimaging methods, particularly methods that report on aberrant cerebral blood flow and oxygen delivery, have potential for triaging patients for appropriate disease-modifying or curative therapies before they have irreversible neurological injury, and for confirming the benefit of new therapies on brain health in clinical trials.


Assuntos
Anemia Falciforme/diagnóstico por imagem , Anemia Falciforme/terapia , Infarto Cerebral/diagnóstico por imagem , Infarto Cerebral/terapia , Neuroimagem , Anemia Falciforme/complicações , Infarto Cerebral/etiologia , Humanos
18.
Curr Opin Anaesthesiol ; 34(3): 212-217, 2021 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-33852506

RESUMO

PURPOSE OF REVIEW: Pregnancy exacerbates sickle cell disease (SCD) and is associated with increased frequency and severity of complications resulting in high levels of maternal and fetal morbidity and mortality. We review recent recommendations for managing SCD in pregnancy. RECENT FINDINGS: An updated pathobiological model of SCD now attributes the clinical picture to a vicious cycle of four major cellular disturbances. Management decisions should be guided by an understanding of this upgraded model. Red cell transfusions are a key therapeutic intervention used in managing several acute and chronic complications. Transfusion however has significant drawbacks. The American Society of Hematology recently published transfusion guidelines to support care providers. SUMMARY: Patients should be managed by a multidisciplinary and experienced team. The perioperative episode is a recognized period of disease exacerbation and informed anesthetic management can contribute to improved patient outcomes.


Assuntos
Anemia Falciforme , Período Periparto , Anemia Falciforme/complicações , Anemia Falciforme/terapia , Transfusão de Sangue , Transfusão de Eritrócitos , Feminino , Humanos , Gravidez , Cuidado Pré-Natal
19.
Pan Afr Med J ; 38: 100, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33889266

RESUMO

Introduction: sickle cell disease (SCD) is a chronic illness. Individuals affected by this disease are at risk for lifelong complications including episodes of acute pain, chronic pain and multi-organ injury that leads to reduced quality of life and a shortened life span. There is a wealth of data on acute care utilization for SCD in the United States. However, data from the Caribbean region is limited. The objective of this study is to explore Emergency Department (ED) utilization for SCD in St. Vincent and the Grenadines by describing: i) the characteristics of SCD related ED encounters; ii) the urgency of these encounters as defined by resource utilization; iii) the disposition for these ED encounters. Methods: the study was a cross-sectional study utilizing data from the ED log books at the Milton Cato Memorial Hospital (MCMH) during non-consecutive time periods between January 1st, 2012 - December 31st, 2016. Results: there were 666 SCD-related ED encounters during the study period. Thirty-four percent of encounters resulted in hospitalization and 66% of encounters met criteria for an urgent visit. The most commonly reported diagnosis was vaso-occlusive crisis and accounted for 84% of all encounters. The most frequently documented age group was the 18-30 age category at 43%. Conclusion: although SCD comprised less than 2% of all ED visits, the majority of these visits could be classified as urgent visits based on resource utilization. This study adds to the emerging data on the burden of this disease in this St. Vincent and the Grenadines.


Assuntos
Anemia Falciforme/terapia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Hospitalização/estatística & dados numéricos , Adolescente , Adulto , Idoso , Anemia Falciforme/complicações , Anemia Falciforme/fisiopatologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Qualidade de Vida , São Vicente e Granadinas , Adulto Jovem
20.
Zhongguo Shi Yan Xue Ye Xue Za Zhi ; 29(2): 643-647, 2021 Apr.
Artigo em Chinês | MEDLINE | ID: mdl-33812445

RESUMO

Sickle cell disease (SCD) is a single gene genetic disease, which seriously threatens the life span and quality of patients. On the basis of the pathogenesis of SCD and the alternative therapy based on fetal hemoglobin F (HbF), the research progress of transcription factors involved in the regulation of HbF gene expression, such as BCL11A, ZBTB7A, KLF-1, c-MYB and SOX6, as well as the application of CRISPR / Cas9, TALEN, zinc finger nuclease and other gene editing technologies in this field has been made, providing a solid theoretical basis for the exploration of new treatment schemes for ß- like hemoglobin diseases, such as sickle cell disease and ß- thalassemia.


Assuntos
Anemia Falciforme , Hemoglobina Fetal , Anemia Falciforme/genética , Anemia Falciforme/terapia , Linhagem Celular Tumoral , Proteínas de Ligação a DNA , Hemoglobina Fetal/genética , Terapia Genética , Humanos , Proteínas Repressoras/genética , Fatores de Transcrição
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...