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Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders that are typically inherited. [2] The most common type is known as sickle cell anemia. [2] Sickle cell anemia results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2]
The underlying cause of sickle cell anemia is the synthesis of aberrant hemoglobin, which attaches to other aberrant hemoglobin molecules inside the red blood cell to undergo rigid deformation. [18] Sickle cell anemia symptoms usually appear around the age of six months. They can change over time and differ from person to person.
The acute chest syndrome is a vaso-occlusive crisis of the pulmonary vasculature commonly seen in people with sickle cell anemia. This condition commonly manifests with a new opacification of the lung(s) on a chest x-ray. [1]
Defects of red blood cell membrane production (as in hereditary spherocytosis and hereditary elliptocytosis). [2] Defects in hemoglobin production (as in thalassemia, sickle-cell disease and congenital dyserythropoietic anemia). [2] Defective red cell metabolism (as in glucose-6-phosphate dehydrogenase deficiency and pyruvate kinase deficiency ...
The sickle cell trait provides a survival advantage against malaria fatality over people with normal hemoglobin in regions where malaria is endemic. The trait is known to cause significantly fewer deaths due to malaria, especially when Plasmodium falciparum is the causative organism.
Based on symptoms, blood test, genetic testing [2] Differential diagnosis: Pyruvate kinase deficiency, hereditary spherocytosis, sickle cell anemia [2] Treatment: Avoiding triggers, medications for infection, stopping offending medication, blood transfusions [3] Frequency: 400 million [1] Deaths: 33,000 (2015) [4]
A vaso-occlusive crisis is a common painful complication of sickle cell anemia in adolescents and adults. [1] [2] It is a form of sickle cell crisis.Sickle cell anemia – most common in those of African, Hispanic, and Mediterranean origin – leads to sickle cell crisis when the circulation of blood vessels is obstructed by sickled red blood cells, causing ischemic injuries.
Diagnosis is commonly confirmed by DNA sequencing. [18] The hemoglobin structural variants can be broadly classified as follows: [19] Sickle cell disorders, which are the most prevalent form of hemoglobinopathy. Sickle hemoglobin (HbS) is prone to polymerize when deoxygenated, precipitating within the red blood cell. This damages the RBC ...