Most Common Genetic Disorders Explained

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MOST COMMON GENETIC DISORDERS EXPLAINED
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SICKLE CELL ANEMIA
As per the Centers for Disease Control
(CDC) in America, Sickle Cell Anemia (SCA)
affects 100,000 people in the country,
making it one of the most common
genetic disorders. The disease primarily
affects the red blood cells (RBCs) in the
body that carry oxygen. The cells are
generally round-shaped to facilitate easy
movement within the blood vessels. However,
due to a mutation in the HBB gene present
on chromosome number 11, the RBCs become
sickle-shaped and sticky, which restricts
blood flow. The condition is extremely
painful. No cure for SCA has been found
up until now. However, several treatments
have been associated with pain relief and
reducing further complications.
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DOWNS SYNDROME
Another one of the most common genetic
disorders is Downs Syndrome. As per the
CDC, every year, 6000 children in America are
born having the condition. It is caused by an
error in cell division that creates a full extra
or partial copy of chromosome number 21. The
severity of Downs Syndrome occurs in a
spectrum, with some people being more
affected than others. It is found to cause
developmental and cognitive difficulties in
newborns. It also causes other medical
issues, including gastric and
heart-related conditions.
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CYSTIC FIBROSIS
About 30,000 people in America have cystic
fibrosis. The condition causes severe damage to
the digestive system, lungs, and other organs of
the human body. It primarily affects the cells
that produce mucus, sweat, and digestive
juices. In general, the substance that is
produced by these cells is a lubricant
that aids the pathways in the body.
However, due to a mutation in chromosome
number 7, the products of these cells
become sticky. Instead of assisting passage,
they block tubes, pathways, and ducts. Several
new advancements in the field of medical
science have led to an increase in the
lifespan of people having cystic fibrosis.
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FRAGILE X SYNDROME
The exact number of people having Fragile X
Syndrome (FXS) is unknown. However, as per the
CDC, a review of the research says that 1
in 7,000 males and 1 in 11,000 females
have FXS. FXS causes several types of
learning and developmental difficulties. A
mutation in the FMR1 gene is responsible for
the occurrence of FXS. This gene codes for
synapses or the connections between nerve
cells. These connections are vital for
transporting nerve impulses from one cell to
another. About a third of children having
FXS also have symptoms of Autism Spectrum
Disorder. Impulsive actions and anxiety issues
are also common. Read more Is Anxiety Disorder A
Mental Illness? Myths And Facts.
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  Disorders Explained