Genetic variation and sickle cell disease severity: a systematic review and meta-analysis

JK Kirkham, JH Estepp, MJ Weiss… - JAMA network …, 2023 - jamanetwork.com
Importance Sickle cell disease (SCD) is a monogenic disorder, yet clinical outcomes are
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …

[HTML][HTML] Fisiopatologia das doenças falciformes: da mutação genética à insuficiência de múltiplos órgãos

MA Zago, ACS Pinto - Revista Brasileira de Hematologia e …, 2007 - SciELO Brasil
As principais alterações fisiopatológicas das doenças falciformes são revistas, levando em
conta três níveis: a) moléculas e células, b) tecidos, c) organismo completo. Dedica-se …

[HTML][HTML] Chronic inflammatory state in sickle cell anemia patients is associated with HBB* S haplotype

ICJ Bandeira, LBS Rocha, MC Barbosa, DBD Elias… - Cytokine, 2014 - Elsevier
The chronic inflammatory state in sickle cell anemia (SCA) is associated with several factors
such as the following: endothelial damage; increased production of reactive oxygen species; …

Prevalência de hemoglobinas variantes em comunidades quilombolas no estado do Piauí, Brasil

LF Soares, EM Lima, JA Silva… - Ciência & Saúde …, 2017 - SciELO Public Health
As hemoglobinas variantes (Hb) decorrem de mutações nos genes da globina. As variantes
estruturais mais frequentes são HbS, HbC, HbD e HbE. O gene da hemoglobina S tem …

Comparative study of sickle cell anemia and hemoglobin SC disease: clinical characterization, laboratory biomarkers and genetic profiles

MM Aleluia, TCC Fonseca, RQ Souza, FI Neves… - BMC hematology, 2017 - Springer
Background In this study, we evaluate the association of different clinical profiles, laboratory
and genetic biomarkers in patients with sickle cell anemia (SCA) and hemoglobin SC …

The effects of old and recent migration waves in the distribution of HBB* S globin gene haplotypes

JD Lindenau, SC Wagner, SM Castro… - Genetics and molecular …, 2016 - SciELO Brasil
Sickle cell hemoglobin is the result of a mutation at the sixth amino acid position of the beta
(β) globin chain. The HBB* S gene is in linkage disequilibrium with five main haplotypes in …

Clinical, hematological, and molecular characterization of sickle cell anemia pediatric patients from two different cities in Brazil

IM Lyra, MS Gonçalves, JAP Braga… - Cadernos de saude …, 2005 - SciELO Brasil
This study focused on clinical, hematological, and molecular aspects of sickle cell anemia
pediatric patients from two different cites in Brazil. Seventy-one patients from São Paulo and …

Sickle cell anemia: clinical diversity and beta S-globin haplotypes

SR Loggetto - Revista brasileira de hematologia e hemoterapia, 2013 - SciELO Brasil
In sickle cell anemia (SCA), beta S-globin haplotypes represent the ethnic group or
geographic region from which patients originated. The haplotypes include Senegal (SEN) …

Clinical and molecular characteristics of sickle cell anemia in the northeast of Brazil

EV Adorno, Â Zanette, I Lyra, MO Seixas… - … and Molecular Biology, 2008 - SciELO Brasil
Beta S-globin gene (βS-globin) haplotypes, markers for severe sickle cell anemia (SCA),
and the alpha-thalassemia 2 gene 3.7 kb deletion (-α2 (3.7 kb) thal) along with demographic …

Diagnosing sickle cell disease and iron deficiency anemia in human blood by Raman spectroscopy

WR da Silva, L Silveira Jr, AB Fernandes - Lasers in Medical Science, 2020 - Springer
This work proposed the diagnosis of iron deficiency anemia (IDA) and sickle cell disease
(SCD) in human blood caused by iron deficiency and hemoglobin S (HbS), which are …