scholarly journals Terapia gênica em doenças falciformes: Análise dos efeitos curativos nas beta-talassemias e nas anemias falciformes

2021 ◽  
Vol 11 (1) ◽  
pp. 01-06
Author(s):  
Ianaly Raiane Abrantes Sarmento ◽  
Maria Alciene Saraiva de Souza ◽  
Dandara Dias Cavalcante Abreu ◽  
Maria Raphaella Ferreira Gomes
Keyword(s):  
Sickle Cell ◽  
Beta Thalassemia ◽  
Genetic Therapy ◽  
Terapia Génica

OBJETIVO: relacionar as Doenças Falciformes com a terapia gênica, tendo em vista a possibilidade da correção genética dessas hemoglobinopatias hereditárias. MÉTODOS:  o delineamento consistiu em uma revisão integrativa a partir de artigos publicados nas bases de dados PubMed, Lilacs, e da Biblioteca Virtual em Saúde (BVS), combinando os seguintes descritores: Genetic therapy AND Anemia, Sickle Cell e Beta-thalassemia AND Anemia, Sickle Cell. Após busca e aplicações dos critérios de inclusão e exclusão restaram assim oito artigos, os quais compõem esta revisão. RESULTADOS E DISCUSSÕES: a maioria dos artigos utilizados faziam uma abordagem geral sobre a terapia genética em pacientes beta-talassêmicos, comparando as características destes com as dos indivíduos falciformes, ressaltando as grandes chances de controle e até mesmo da cura destas através da inserção ou edição de genes como também transplante das células hematopoiéticas. Estudos atuais apostam em avanços científicos no ramo da biologia da manipulação para que haja uma modificação genética com transfusão de células em crianças pré-diagnosticadas com alguma hemoglobinopatia, impedindo assim que ocorram as manifestações clínicas da doença. CONSIDERAÇÕES FINAIS: sabendo-se do grande número de nascidos portando algum tipo de Doença Falciforme, a modificação genética do sangue do cordão umbilical e o desenvolvimento de células estaminais hematopoiéticas seria, portanto uma terapia ideal para a diminuição dos casos de recém-nascidos portadores de Anemia Falciforme ou de Beta-talassemia. Já nos casos já existentes, a abordagem terapêutica que mostra maior eficiência e facilidade de acesso seria àquela que combina o aumento do volume celular com a diminuição da hemoglobina intracelular.

Prevalence of Red Blood Cell Alloimmunization Among Beta-Thalassemia and Sickle Cell Anemia Patients: a Study from Saudi Arabia

2021 ◽  
Vol 67 (10/2021) ◽  
Author(s):  
Raed Felimban ◽  
Ahmed Alsharyufi ◽  
Jasem Aljehani ◽  
Ahmed Sahlool ◽  
Hamead Aljabri ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Blood Cell ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Red Blood Cell ◽  
Beta Thalassemia

scholarly journals A Young Child with Sickle Cell Beta Thalassemia: A Case Report and Review of Literatures

2013 ◽  
Vol 21 (2) ◽  
pp. 245-249
Author(s):  
Md. Abid Hossain Mollah ◽  
Ekhlasur Rahman ◽  
Saiful Islam ◽  
AKM Amirul Morshed ◽  
Farzana Rahman Munmun ◽  
...  
Keyword(s):  
Case Report ◽  
Young Child ◽  
Sickle Cell ◽  
Beta Thalassemia ◽  
Medical College

J Dhaka Medical College, Vol. 21, No. 2, October, 2012, Page 245-249 DOI: http://dx.doi.org/10.3329/jdmc.v21i2.15368

Hypersplenic thrombocytopenia in sickle cell-beta thalassemia

1972 ◽  
Vol 264 (6) ◽  
pp. 489-493 ◽  
Author(s):  
PETER T. ROWLEY ◽  
MARSHALL JACOBS
Keyword(s):  
Sickle Cell ◽  
Beta Thalassemia

scholarly journals The -158 site 5' to the G gamma gene and G gamma expression

Blood ◽  
1985 ◽  
Vol 66 (6) ◽  
pp. 1463-1465
Author(s):  
D Labie ◽  
O Dunda-Belkhodja ◽  
F Rouabhi ◽  
J Pagnier ◽  
A Ragusa ◽  
...  
Keyword(s):  
Linkage Disequilibrium ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Beta Thalassemia ◽  
Surrounding Area ◽  
Area 5 ◽  
Highly Correlated

To test the hypothesis advanced by Gilman and Huisman that the -158 site 5′ to the G gamma gene determines the G gamma expression after the first 4 months of life, we have examined DNA from sickle cell anemia (SS) patients from Africa and beta-thalassemic homozygotes from Algeria. We find that the Xmnl site is strongly linked to the Senegal haplotype among SS patients, to haplotype IX (most probably identical to the Senegal haplotype), and to haplotype III among the Algerian thalassemics. Thalassemics with haplotypes I/I and V/V have no Xmnl site and low G gamma expression. In contrast, beta-thalassemia- associated haplotype II (also characterized by high G gamma expression) fails to exhibit the Xmnl site. We conclude that, although highly correlated, the -158 C----T substitution does not perfectly predict the presence of high G gamma expression. These findings also exclude the possibility that the Xmnl site is solely involved in the determination of high G gamma expression and suggest that either several different site substitutions in the area 5′ to the gamma gene might have the same effect or that, alternatively, the Xmnl site and its surrounding area is not involved in G gamma expression and may be only in linkage disequilibrium with a controlling sequence elsewhere.

scholarly journals 5-Azacytidine increases gamma-globin synthesis and reduces the proportion of dense cells in patients with sickle cell anemia

Blood ◽  
1983 ◽  
Vol 62 (2) ◽  
pp. 370-380 ◽  
Author(s):  
TJ Ley ◽  
J DeSimone ◽  
CT Noguchi ◽  
PH Turner ◽  
AN Schechter ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Peripheral Blood ◽  
Bone Marrow Cells ◽  
Beta Thalassemia ◽  
Globin Genes ◽  
Gamma Globin ◽  
Globin Synthesis ◽  
Marrow Cells

Abstract We previously demonstrated that 5-azacytidine can selectively increase gamma-globin synthesis in a patient with beta +-thalassemia, prompting us to treat two patients with sickle cell anemia and two additional patients with beta + thalassemia. 5-Azacytidine (2 mg/kg/day) was continuously infused for 7 days with no apparent clinical toxicity. The gamma/beta-globin biosynthetic ratio increased fourfold to sixfold in the bone marrow cells of each patient after treatment and remained elevated for 7–14 additional days. Hypomethylation of DNA near the gamma-globin genes in bone marrow cells was demonstrated 2 days after beginning the 5-azacytidine infusion. The peripheral blood fetal hemoglobin (HbF) level increased from 6.0% to 13.7% in one patient with sickle cell anemia and from 1.6% to 8.9% in the second. Stractan gradient analyses of peripheral blood from patients with sickle cell anemia revealed a marked decrease in the percentage of dense cells (cells that contain increased amounts of HbS polymer when deoxygenated) following treatment. These observations provide an impetus to investigate the effects of repeated courses of 5-azacytidine in a small group of severely ill patients to determine whether this drug may have a role in the treatment of patients with sickle cell anemia and beta- thalassemia.

Laparoscopic cholecystectomy in adult patients with beta-thalassemia or sickle cell disease

2005 ◽  
Vol 19 (12) ◽  
pp. 1668-1669 ◽  
Author(s):  
G. Marakis ◽  
T. E. Pavlidis ◽  
K. Ballas ◽  
S. Rafailidis ◽  
A. Sakantamis
Keyword(s):  
Laparoscopic Cholecystectomy ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Adult Patients ◽  
Beta Thalassemia ◽  
Cell Disease

scholarly journals Clinical events in the first decade in a cohort of infants with sickle cell disease. Cooperative Study of Sickle Cell Disease [see comments]

Blood ◽  
1995 ◽  
Vol 86 (2) ◽  
pp. 776-783 ◽  
Author(s):  
FM Gill ◽  
LA Sleeper ◽  
SJ Weiner ◽  
AK Brown ◽  
R Bellevue ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Clinical Course ◽  
The United States ◽  
Beta Thalassemia ◽  
Acute Chest Syndrome ◽  
Cooperative Study ◽  
Cell Disease ◽  
Splenic Sequestration ◽  
Clinical Events

Within the Cooperative Study of Sickle Cell Disease, 694 infants with confirmed sickle cell disease were enrolled at less than 6 months of age. Information about the nature and frequency of complications was collected prospectively over a 10-year period. Painful crises and acute chest syndrome were the most common sickle cell-related events in homozygous sickle cell anemia (SS), hemoglobin SC disease (SC), and S beta thalassemia patients (overall incidence in SS patients of 32.4 and 24.5 cases per 100 person-years, respectively). Bacteremia occurred most frequently in SS children under 4 years of age and in SC patients less than 2 years of age. The mortality rate was low in this cohort compared with that found in previous reports. Twenty children, all with Hb SS, died (1.1 deaths per 100 person-years among SS patients). Infection, most commonly with Streptococcus pneumoniae and Hemophilus influenzae, caused 11 deaths. Two children died of splenic sequestration, 1 of cerebrovascular accident, and 6 of unclear causes. Two patients underwent cholecystectomies, and 17 underwent splenectomies after one or more splenic sequestration crises. The experience of this cohort should reflect closely the true clinical course of those children with Hb SS and Hb SC disease who are observed in sickle cell centers in the United States.

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