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People with one copy of the gene for hemoglobin C (termed heterozygous) do not experience significant symptoms, but can pass the abnormal gene onto their children; this condition is called hemoglobin C trait. When two hemoglobin C genes are present (termed homozygous), the individual is said to have hemoglobin C disease, and may develop mild ...
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.
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]
282.5 Sickle-cell trait; 282.6 Sickle-cell anemia; 283 Acquired hemolytic anemias. 283.0 Autoimmune hemolytic anemias. Warm autoimmune hemolytic anemia; 283.1 Non-autoimmune hemolytic anemias; 283.2 Hemoglobinuria due to hemolysis from external causes Paroxysmal nocturnal hemoglobinuria; 284 Aplastic anemia. 284.0 Constitutional aplastic anemia
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 membrane resulting in its premature destruction and consequent ...
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
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.
Hemoglobin electrophoresis is a blood test that can detect different types of hemoglobin. The test can detect hemoglobin S, the form associated with sickle cell disease, as well as other abnormal types of hemoglobin, such as hemoglobin C. It can also be used to investigate thalassemias, which are disorders caused by defective hemoglobin production.