Sickle Cell Anemia
What Chromosomes Are Involved?
This disease is caused by a mutation on the 11th chromosome. This caused the hemoglobin molecule to be misshapen, leading to a stiff sickle shaped blood cell.
What Inherited Pattern Does It show?
The sickle cell anemia is most commonly caused by both parents passing the trait to the offspring. The chances of a baby inheriting the disease if both parents are carriers is 50%. Therefore, it is recessive.
How Is The DNA Affected?
The DNA has a missense mutation. It changes an amino acid so that the blood cells become sickle shaped.
How do mutations affect structure and functions?
A mutated version of the gene that makes hemoglobin causes the disease. It is caused by a "switch" by the middle codon in DNA. This "switch" leads to the hemoglobin protein to be clumped together.
How Does It Affect The Individual?
In most children with the disease, it causes bacterial infections. Also, it affects the flow of blood to many different organs such as the liver, kidneys, and the heart.
What are Symptoms?
Enlarged abdomen, swelling in hands and feet, fever, infections, leg ulcers. Some other symptoms are jaundice, gallstones, hypertension in lung blood vessels and also strokes.
What are Treatments?
The treatments all depend on the symptoms that you get. The most common treatment is painkilling drugs. In extreme cases, transfusion can be an option. Also, the drug hydroxyurea can be a way to decrease the number of transfusions.
The sickle cell trait can provide protection against malaria.
The lifespan for a person with sickle cell anemia is over double what it was 25 years ago.
Sickled cells live about 15 days.
Sickled cells live about 8 times shorter than regular red blood cells.