Sickle Cell Anemia

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According to Healthline (2017), the mutated Hemoglobin Subunit Beta (HBB) gene is known to cause

sickle cell anemia. HBB gene takes up the role of giving out instructions in creating a protein called beta-
globin. Moreover the U.S. National Library of Medicine (2020), that Beta-globin is a subunit of
Hemoglobin which can be found inside the red blood cells. The mutation of the gene causes the
production of abnormal Beta-globin known as the Hemoglobin S the origin of sickle cell anemia. Once a
mutation occurs it alters a certain protein building block or the amino acid in the beta-globin. Sickle Cell
Anemia News (2013), informed that the change in the amino acid forces the Hemoglobin to stick to one
another and form stiff fibers, therefore these fibers forms the crescent shape of the red blood cells
causing them to be rigid, fragile, and distorted.
Sickle cell anemia is inherited in an autosomal recessive pattern, which means that both parents have
copies of the mutated gene that causes this disease. Studies of Genetic and Rare Diseases Information
Center (2015), showed that the parents of individuals with autosomal recessive condition do not usually
show the symptoms of the disease. This explains that being a carrier of the sickle cell trait is not easily
traced which could lead to passing on the disease to their children. When both of these carriers of the
mutated gene have a child, there is likely to have 25% chance for the child to have the sickle cell
anemia, a 50% chance that the child will be a carrier, and a 25% chance that the child will not have the
disease nor be the carrier.
It is stated by Genetic Home Reference (2020), that the abnormal change in the HBB gene can result to
production of other abnormalities within beta-globin that leads to different types of sickle cell anemia.
The different cases happen when the beta-globin subunit is substituted with a different kind of
Hemoglobin which could be the Hemoglobin C or Hemoglobin E. Healthline (2017), stated that there are
four main kinds of sickle cell anemia from the mutations of different genes. The most usual type of sickle
cell anemia is the Hemoglobin SS disease. This occurs whenever an individual inherited copies of the
Hemoglobin S gene from the parents. Hemoglobin SC disease is the kind of sickle cell anemia this
happens whenever the hemoglobin C is inherited from one parent while hemoglobin S was received
from the other. The third one is the Hemoglobin SB+ thalassemia wherein it alters the production of
beta globin gene production. This results to lesser beta protein which reduces the size of the red blood
cell. Hemoglobin SB 0 thalassemia is the fourth type of sickle cell disease wherein the beta globin gene is
also affected, this type of sickle cell anemia is not severe and common.
According to the statistics of National Human Genome Research Institute (2020), the sickle cell condition
is one of the most common inherited blood disorders in the United States, it is recorded that 100,000
Americans have the disease. The sickle cell trait is found to about one in 12 African Americans and about
one in 100 Hispanic Americans which means that they are the carriers of the disease.

References:
https://www.healthline.com/health/sickle-cell-anemia#sources
https://sicklecellanemianews.com/causes-sickle-cell-disease/
https://testdirectory.questdiagnostics.com/test/test-detail/14974/beta-globin-complete?cc=MASTER
https://medlineplus.gov/ency/article/000527.htm
https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/symptoms-causes/syc-20355876
https://rarediseases.info.nih.gov/diseases/8614/sickle-cell-anemia
https://www.genome.gov/Genetic-Disorders/Sickle-Cell-Disease
https://ghr.nlm.nih.gov/gene/HBB#resources
https://www.healthline.com/health/sickle-cell-anemia#types
https://www.verywellhealth.com/sickle-cell-disease-401304
BAHALA KA NA WILL HAHAHAHAHAH

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