The prevalence of factor V (FV) Leiden G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T mutations were investigated among 90 sickle trait, 61 sickle homozygous, 75 sickle beta thalassemia, and 15 HbSD Asian Indian sickle cell patients. In all, 297 healthy controls were evaluated to compare the polymorphism frequency. The prevalence of FV Leiden heterozygous G>A were significant in the group (P = .02), while PRT G20210A polymorphism was not seen among patients as well as controls. However, an increased frequency of the MTHFR 677 C>T genotype was seen among patients as well as controls, but this was not statistically significant (P = .13). This suggested a low impact of inherited hypercoagulability risk factors in the pathogenesis of sickle cell disease and/or its complications.
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http://dx.doi.org/10.1177/1076029611425830 | DOI Listing |
BMJ Glob Health
January 2025
Sickle Cell Programme, Department of Haematology and Blood Transfusion, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania.
Despite progress in healthcare services for individuals living with sickle cell disease (SCD) in Africa, substantial gaps remain in advanced treatments for SCD. To help address this burden, Tanzania has established one of the largest single-centre SCD programmes in the world and developed an advanced therapy programme for SCD focused on patient engagement and advocacy, clinical activities involving exchange blood transfusion (ExBT) and haematopoietic stem cell transplant (HSCT), gene therapy (GT) preparedness, and enabling partnerships. This report describes the programme's genesis, structure and progress achieved.
View Article and Find Full Text PDFComput Biol Med
January 2025
SCOPIA Research Group, University of the Balearic Islands, Dpt. of Mathematics and Computer Science, Crta. Valldemossa, Km 7.5, Palma, E-07122, Spain; Health Research Institute of the Balearic Islands (IdISBa), Palma, E-07122, Spain; Laboratory for Artificial Intelligence Applications at UIB (LAIA@UIB), Palma, E-07122, Spain; Artificial Intelligence Research Institute of the Balearic Islands (IAIB), Palma, E-07122, Spain. Electronic address:
Sickle cell disease causes erythrocytes to become sickle-shaped, affecting their movement in the bloodstream and reducing oxygen delivery. It has a high global prevalence and places a significant burden on healthcare systems, especially in resource-limited regions. Automated classification of sickle cells in blood images is crucial, allowing the specialist to reduce the effort required and avoid errors when quantifying the deformed cells and assessing the severity of a crisis.
View Article and Find Full Text PDFBlood
January 2025
New York Blood Center, New York, New York, United States.
Babesiosis in sickle cell disease (SCD) is marked by severe anemia but the underlying red blood cell (RBC) rheological parameters remain largely undefined. Here, we describe altered RBC deformability from both primary (host RBC sickle hemoglobin mediated) and secondary changes (Babesia parasite infection mediated) to the RBC membrane using wild type AA, sickle trait AS and sickle SS RBCs. Our ektacytometry (LORRCA) analysis demonstrates that the changes in the host RBC bio-mechanical properties, pre- and post- Babesia infection, reside on a spectrum of severity, with wild type infected AA cells, despite showing a significant reduction of deformability under both shear and osmolarity gradients, exhibiting only a mild phenotype; compared to infected AS RBCs which show median changes in deformability and infected SS RBCs which exhibit the most dramatic impact of infection on cellular rheology, including an increase in Point of Sickling values.
View Article and Find Full Text PDFPak J Med Sci
January 2025
Khalid Khalil Security Forces Hospital Makkah, Makkah, Saudi Arabia.
Objective: To observe the fetomaternal outcome of therapeutic versus prophylactic blood transfusions in patients with sickle cell disease (SCD) during pregnancy.
Method: This single-center retrospective observational study was conducted on consecutive pregnant women with SCD between January 2018 and December 2020. All the pregnant women with SCD were included in this study.
Non-myeloablative hematopoietic cell transplantation (HCT) is a curative option for individuals with sickle cell disease (SCD). Our traditional goal with this approach has been to achieve a state of mixed donor/recipient chimerism. Recently, we reported an increased risk of hematologic malignancies (HMs) in adults with SCD following graft failure or mixed chimerism.
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