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Beta thalassemia is 

a blood disorder that reduces the


production of hemoglobin.Low levels of hemoglobin lead to a
shortage of mature red blood cells and a lack of oxygen in the
body. People with Beta-thalassemia have anemia, which can
cause paleness, weakness, fatigue, and more serious
complications. There are two main forms of Beta-thalassemia,
classified based on the severity of symptoms: Thalassemia
major (also called Cooley's anemia) - the more severe form,
causing severe anemia and enlarged liver and spleen
(hepatosplenomegaly).

Cystic fibrosis is a disease that causes thick, sticky mucus to


build up in the lungs, digestive tract, and other areas of the
body. It is one of the most common chronic lung diseases in
children and young adults. It is a life-threatening disorder.
If you don’t have CF, the mucus that lines organs and body
cavities, such as your lungs and nose, is slippery and watery. If
you do have CF, thick mucus clogs the airways and makes it
difficult to breathe.

In someone who has SCD (Sickle Cell Anemia), the


hemoglobin is abnormal, which causes the red blood cells to
become hard and sticky and look like a C-shaped farm tool
called a “sickle.” The sickle cells die early, which causes a
constant shortage of red blood cells.
There are several types of SCD. The specific type of SCD a
person has depends on the genes they inherited from their
parents. People with SCD inherit genes that contain
instructions, or code, for abnormal hemoglobin.
Cri-du-chat (cat's cry) syndrome, also known as 5p- (5p minus)
syndrome, is a chromosomal condition that results when a
piece of chromosome 5 is missing . Infants with this condition
often have a high-pitched cry that sounds like that of a cat.

It is not the result of anything the parents have done or failed to


do. The characteristics of a newborn with cri du chat syndrome
include a high-pitched cry, a small head and a flattened bridge
of the nose.

 Down syndrome is a condition in which a person has an extra


chromosome. Chromosomes are small “packages” of genes in
the body. They determine how a baby's body forms and
functions as it grows during pregnancy and after birth.

 All affected individuals experience cognitive delays, but the


intellectual disability is usually mild to moderate.

Edwards syndrome is a genetic condition in babies that


causes severe disability. It is caused by an extra copy of
chromosome 18 and babies born with the condition
usually do not survive for much longer than a week.

A baby with Edwards' syndrome has 3 copies of


chromosome number 18 instead of 2. This affects the way
the baby grows and develops. Having 3 copies of
chromosome 18 usually happens by chance, because of a
change in the sperm or egg before a baby is conceived.

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