sickle cell
So, this week I’ll be discussing a rare genetic
disorder called sickle cell disease. Sickle cell disease is a genetic disease
that causes your Red blood cells to be shaped abnormally. Instead of a normal
circle shape, red blood cells in an individual who has sickle cell disease are
sickle-shaped (crescent shaped). Before I get into what the disease entails,
I’ll give you some background information.
(1) Cells
in tissues need a steady supply of oxygen to work well. Normally, hemoglobin in
red blood cells takes up oxygen in the lungs and carries it to all the tissues
of the body.
(2) Red
blood cells that contain normal hemoglobin are disc shaped which allows the
cells to be flexible so that they can move through blood vessels to deliver
oxygen.
(3) Sickle
hemoglobin is not like normal hemoglobin. It can form stiff rods within the red
cell, changing it into a crescent, or sickle
shape.
(4) Sickle-shaped
cells are not flexible and can stick to vessel walls, causing a blockage that
slows or stops the flow of blood. When this happens, oxygen can’t reach nearby
tissues.
So, what are the signs and symptoms of sickle cell
disease? One of the major disorders associated with sickle cell disease is
Anemia. Some other symptoms include painful edema to the hands and feet; fatigue
or fussiness from anemia; A yellowish color of the skin, known as jaundice, or whites of the eyes,
known as icteris (this occurs
when a large number of red cells hemolyze); Splenic Sequestration (sudden
pooling of blood in the spleen) and Liver Congestion; and Aseptic Necrosis and
Bone Infarcts (death of portions of bone).
How do you get sickle cell? Sickle cell disease is inherited
as an autosomal recessive condition. This means that the gene can be passed on
from a parent carrying it to male and female children. In order for sickle cell
disease to occur, a sickle cell gene must be inherited from both the mother and
the father, so that the child has two sickle cell genes. The inheritance of
only one sickle cell gene makes someone a sickle cell carrier but it will not
cause the individual to have the disease.
By now, I’m sure your wondering if Sickle cell disease
treatable. Sickle cell disease is a lifelong disease. However, there are few
techniques that can aid in the struggle of sickle cell disease. Techniques such
as Bone marrow transplant, Red blood cell transfusions, and the use the use of
antibiotics. For each technique there are stipulations as to who can use them.
Bone marrow transplants are usually reserved for people younger than age 16 due
to the associated risk. RBC transfusions are used with people who experience
anemia. Antibiotics are usually administered to children that are about 2
months old. They will continue taking said antibiotic until they are at least 5
years old. The use of antibiotics helps prevent infections, such as pneumonia,
which can be life-threatening to an infant or child with sickle cell anemia
I had no idea what to write about this week and so I goggled rare diseases and this was one of the first ones to popup on my search. BUT, I have done numerous paper and presentations on sickle cell disease. Great job on gathering information, really informative post!
ReplyDeleteSickle cell disease is a very interesting to me because of how it can prevent a secondary, more lethal, disease from affecting the individual. Every since I first heard of sickle cell, that was the one piece of information that stuck. The red blood cells are abnormal and this disease can prevent a person from getting infected by malaria. Great job on this post!
ReplyDeleteSickle Cell Anemia is a very serious and deadly disease. Despite its rarity, I feel like I have learned about this disease in every biology class that I have ever taken. Very interesting and informative, keep up the good work!
ReplyDeleteThis was very well written, nice job. I have heard a lot about this disease here and there over my education in college, so it was nice to see it all in one blog!
ReplyDeleteSickle cell is defiantly one of those things that we have studied as far as mutations go. I think I have also read that this has caused some resistance to malaria. Which could make sense, because those who have the disease are in an area where malaria is common. This could be a reason why this disease has spread instead of dying out with those who have it because of the valuable protection from a common disease.
ReplyDeleteOne of my favorite phenotypes for teaching overdominance in population genetics.
ReplyDelete