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Its all in the

genes
Genetic
Disorder
Project
Presenting

Thalassemi
a
BY: JASMIN SIERRA

What is the Thalassemia Disorder?

o Thalassemia is a blood disorder


passed down through the
families which mean is a
inherited disorder. It is when the
body makes an abnormal form of
hemoglobin(the protein in red
blood cells that carries
oxygen).Which destroys severely
the red blood cells.

Types & Symptoms


Beta Thalassemia

Alpha Thalassemia

Beta thalassemia has two serious types: thalassemia major


(Cooleys anemia) and thalassemia intermedia.

Alpha thalassemia has two serious types:


hemoglobin H disease and hydrops fetalis

1. Thalassemia major (Cooleys anemia) - occurs with


a corresponding change in the beta globin gene
generally appear before a childs second birthday and is
usually so dangerous that it requires regular blood
transfusions

1. Hemoglobin H disease-- occurs when a


mutation in the gene that codes for alpha globin
results in reduced or absent production of alpha
globins. It can cause bone issues. The cheeks,
forehead, and jaw may all overgrow

-----Fussiness -----paleness -----frequent infections


-----poor appetite -----failure to thrive -----enlarged organs
----jaundice (yellowing of the skin and whites of the eyes)
2. Thalassemia intermedia- is a less dangerous form of
beta thalassemia. People with this condition still have
anemia, but they do not need blood transfusions.

--- jaundice --- extremely enlarged spleen --malnourishment


2. Hydrops Fetalis- is an extremely severe form of
thalassemia. It occurs before birth, and most
individuals with this condition are either stillborn or
die shortly after being born.

Thalassemia Pedigree
I.

If only one of your parents is a


carrier for thalassemia, you may
develop a form of the disease
called thalassemia minor. If you
inherit this one you will probably
not have symptoms, but you will
be a carrier of the disease.

II. If both of your parents are carriers


of thalassemia, you have a 25
percent chance of inheriting a
more serious form of the disease.

Traits
Thalassemia is an inherited disease that
may be inherited as an autosomal
recessive or dominant trait depending on
the type. Most thalassemia's are inherited
as recessive traits. Thalassemia is
autosomal dominant in a very small
percentage of beta thalassemia cases.
Thalassemia is most common in people
from Southeast and Central Asia, the
Mediterranean, the Middle East, India, and
North Africa.

Treatment
In general some treatments they receive are:
--blood transfusions --bone marrow transplant
---medications & supplements
---possible surgery to remove the spleen
and/or gallbladder
People who receive blood transfusions receive
extra iron that the body cant easily get rid of
and iron can accumulate in tissues, which can be
potentially fatal.

Facts
Leads to anemia is a disorder in which
your body doesnt have enough
normal, healthy red blood cells (RBC).
For people to know how they would
live depends on the type of the
disease they have for example
Hydrops fetalis which is usually fatal
either before or shortly after birth.
In severe cases you can have heart
failure in the 20s
Some people who have mild or minor
forms of thalassemia can typically
have normal lives.

Bibliography
http://www.healthline.com/health/thalassemia#Overview1
http://www.itmonline.org/arts/thalassemia.htm
http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/treatment
http://
www.livingnaturally.com/ns/DisplayMonograph.asp?StoreID=E32FA6C399AB4C99897032581851D4
5D&DocID=condition-thalassemia
http://www.cdc.gov/ncbddd/thalassemia/index.html
http://sickle.bwh.harvard.edu/thal_inheritance.html
http://pakedu.net/health-and-beauty/awareness-against-thalassemia-urged-organised-by-omair-sanafoundation-in-collaboration-with-district-central-karachi-administration
/
http://blogs.tribune.com.pk/story/1952/is-a-thalassemia-test-too-much-to-ask/
http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/causes