Genetic variation and sickle cell disease severity: a systematic review and meta-analysis
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 …
influenced by additional genetic factors. Despite decades of research, the genetics of SCD …
Biological and genetic determinants of glycolysis: Phosphofructokinase isoforms boost energy status of stored red blood cells and transfusion outcomes
Mature red blood cells (RBCs) lack mitochondria and thus exclusively rely on glycolysis to
generate adenosine triphosphate (ATP) during aging in vivo or storage in blood banks …
generate adenosine triphosphate (ATP) during aging in vivo or storage in blood banks …
Single Nucleotide Polymorphisms in XMN1-HBG2, HBS1L-MYB, and BCL11A and Their Relation to High Fetal Hemoglobin Levels That Alleviate Anemia
SNNA Mohammad, S Iberahim, WS Wan Ab Rahman… - Diagnostics, 2022 - mdpi.com
Anemia is a condition in which red blood cells and/or hemoglobin (Hb) concentrations are
decreased below the normal range, resulting in a lack of oxygen being transported to tissues …
decreased below the normal range, resulting in a lack of oxygen being transported to tissues …
Genotypic diversity among Angolan children with sickle cell anemia
M Delgadinho, C Ginete, B Santos, A Miranda… - International Journal of …, 2021 - mdpi.com
Background. Sickle cell anemia (SCA) is an inherited blood disorder that affects over
300,000 newborns worldwide every year, being particularly prevalent in Sub-Saharan …
300,000 newborns worldwide every year, being particularly prevalent in Sub-Saharan …
Detection of Asymptomatic Sickle Cell Hemoglobin Carriers and Fetal Hemoglobin Regulating Genetic Variants in African Descendants from Oaxaca, Mexico
MDLÁ Romero-Tlalolini, SR Aguilar-Ruiz… - Anemia, 2024 - Wiley Online Library
Sickle cell anemia has been classified as a noninfectious neglected tropical disease and,
although not exclusively, affects African descendants more frequently. This study aimed to …
although not exclusively, affects African descendants more frequently. This study aimed to …
α-Globin mutations and Genetic Variants in γ-globin Promoters are Associated with Unelevated Hemoglobin F Expression of Atypical β0-thalassemia/HbE
S Satthakarn, S Panyasai - Archives of Medical Research, 2024 - Elsevier
Background Excessive expression of hemoglobin F (HbF) is a characteristic feature and
important diagnostic marker of β 0-thalassemia/HbE disease. However, some patients may …
important diagnostic marker of β 0-thalassemia/HbE disease. However, some patients may …
[HTML][HTML] Genotyping the BCL11A Single Nucleotide Polymorphism and Associated Levels of Fetal Hemoglobin in Mauritanian Sickle Cell Patients
AT Brahim, M Taleb, H Soumaré, SM Ghaber… - Frontiers in Bioscience …, 2024 - imrpress.com
Background: Sickle cell disease (SCD) is a major heritable genetic disease in sub-Saharan
Africa, including Mauritania. Fetal hemoglobin (HbF) can affect the pathophysiology …
Africa, including Mauritania. Fetal hemoglobin (HbF) can affect the pathophysiology …
Genome editing in K562 cells suggests a functional role for the XmnI Gg polymorphism: a widely used genetic marker in β-thalassemia and sickle cell disease patients
A Ahmadifard, N Maroofi, MM Tehrani… - Cellular and Molecular …, 2024 - cellmolbiol.org
Abstract The XmnI Gg-158 C/T polymorphism has been widely associated with fetal
hemoglobin (HbF) levels, the severity of disease, and the response to the drug hydroxyurea …
hemoglobin (HbF) levels, the severity of disease, and the response to the drug hydroxyurea …
[HTML][HTML] Responses of β-thalassemia and compound heterozygote of Sickle/βthalassemia of BCL11A Gene Polymorphism in Pakistani Patients
N Soomro, M Wahid, M Mehmood… - Pakistan Journal of …, 2023 - ncbi.nlm.nih.gov
Methods: The sample size of the study is n= 180, groups were divided in Controls, β-thal & S-
β thal. One ml blood was drawn from patients and controls to extract DNA for PCR …
β thal. One ml blood was drawn from patients and controls to extract DNA for PCR …
[PDF][PDF] HBS1L-MYB 基因区域在遗传性血红蛋白疾病中的研究进展
杨宇熙， 韩兵社， 王玉成， 张俊芳 - 生命科学, 2022 - lifescience.sinh.ac.cn
地中海贫血症和镰刀型贫血症是世界各地各种族人群中的两种最常见的单基因疾病.
这两种疾病在临床表现上差异很大, 其中患者体内胎儿血红蛋白(HbF) 的水平是影响疾病临床 …
这两种疾病在临床表现上差异很大, 其中患者体内胎儿血红蛋白(HbF) 的水平是影响疾病临床 …