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Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in the β-globin chain. Phenotypic variation in the clinical presentation and disease outcome is a characteristic feature of the disorder.
- Anemia, sickle cell - Genes and Disease - NCBI Bookshelf
Sickle cell anemia is the most common inherited blood...
- Anemia, sickle cell - Genes and Disease - NCBI Bookshelf
STRUCTURAL ASPECTS OF HEMOGLOBIN. Hemoglobin is a 64-kD, nearly spherical protein with a diameter of approximately 5.5 nm. Its three-dimensional structure was solved by Max F. Perutz who discussed the molecular anatomy and physiology of hemoglobin in the first edition of this book.
4 Σεπ 2023 · Sickle cell anemia is characterized by two major components: Hemolysis and vaso-occlusive crises (VOC). The defect in the beta-globin gene makes the sickle hemoglobin (HbS) molecule susceptible to converting into rigid, elongated polymers in a deoxygenated state.
The structure shows how the mutated amino acids, colored bright red and orange here, bind to neighboring hemoglobin molecules, stabilizing the fiber (www.pdb.org).
Sickle cell anemia is the most common inherited blood disorder in the United States, affecting about 72,000 Americans or 1 in 500 African Americans. SCA is characterized by episodes of pain, chronic hemolytic anemia and severe infections, usually beginning in early childhood.
22 Ιαν 2024 · rcsb pdb - 5e83: crystal structure of carbonmonoxy hemoglobin s (liganded sickle cell hemoglobin) complexed with gbt440, co-crystallization experiment.
A more detailed understanding of the switch from fetal to adult hemoglobin and the identification of regulators such as BCL11A provide hope that these findings will be translated into genomic-based approaches to the therapeutic reactivation of hemoglobin F production in patients with SCA.
