Thalessamia

Done by – Chaitya.J, Aditya.K

What is it?
Thalassemia is a disease caused by less amount of
hemoglobin, the oxygen-carrying protein inside the red blood
cells. There are two basic groups of thalassemia disorders:
alpha thalassemia and beta thalassemia. These conditions
cause varying degrees of anemia, which can range from
insignificant to life threatening.
Usual adult hemoglobin is made up of three components: alpha
globin, beta globin, and heme. Thalassemias are classified
according to the globin that is affected, hence the
names alpha and beta thalassemia. Although both classes of
thalassemia affect the same protein, the alpha and beta
thalassemias are distinct diseases that affect the body in
different ways.
Beta thalassemia
 Beta thalassemia may be the most well-known type
of thalassemia and is also called Cooley's anemia. It
is caused by a change in the gene for the beta globin
component of hemoglobin. Beta thalassemia
major usually causes severe anemia that can occur
within months after birth. If left untreated, severe
anemia can result in insufficient growth and
development, as well as other common physical
complications that can lead to a dramatically
decreased life-expectancy. It can be cured by blood
transfusion therapy.
Alpha thalassemia
 Alpha thalassemia is the result of changes in the genes for
the alpha globin component of hemoglobin. There are two
main types of alpha thalassemia disease: hemoglobin H
disease and alpha thalassemia major. The two diseases are
quite different from beta thalassemia as well as from one
another. Individuals with hemoglobin H disease can
experience events of hemolytic anemia—anemia caused by
the rapid breakdown of the red blood cells. It can also be
caused by the exposure to certain chemicals. Hemoglobin H
disease is in most cases milder than beta thalassemia. It
does not generally require transfusion therapy. Alpha
thalassemia major is a very serious disease that results in
severe anemia that begins even before birth. Most affected
babies do not survive to be born or die shortly after birth.
How do you get it?
 All types of thalassemia are caused by changes in either
the alpha- or beta-globin gene. Thus the disease is
genetic / inherited. All types of thalassemia are recessively
inherited, meaning that a genetic change must be
inherited from both the mother and the father. The severity
of the disease is influenced by the gene inherited by the
parents, as well as other genetic and environmental
factors. There are rare exceptions, notably with beta
thalassemia, where the globin gene disorder is inherited
from only one of the parent.
 How do you know you have got it?
Beta thalassemia
If untreated, beta thalassemia major can lead to severe lethargy, paleness, and delays in
growth and development. The body attempts to compensate by producing more
blood, which is made inside the bones in the marrow. However, this is ineffective
without the needed genetic instructions to make enough functioning hemoglobin.
Instead, obvious bone expansion and changes occur that cause characteristic facial
and other changes in appearance, as well as increased risk of fractures. Severe
anemia taxes other organs in the body—such as the heart, spleen, and liver—which
must work harder than usual. This can lead to heart failure, as well as enlargement
and other problems of the liver and spleen. When untreated, beta thalassemia major
generally results in childhood death, usually due to heart failure
Hemoglobin h disease
Absence of three alpha globin genes causes an imbalance of alpha and beta globin
proteins in the red blood cells. The excess beta globin proteins tend to come together
to form hemoglobin H, which is unable to release oxygen to the tissues. In addition,
hemoglobin H tends to precipitate out in the cells, causing damage to the red blood
cell membrane. When affected individuals are exposed to certain drugs and
chemicals known to make the membrane more fragile, the cells are thought to
become vulnerable to breakdown in large numbers, a complication called hemolytic
anemia. This can result in fatigue, paleness, and a yellow discoloration of the skin
and whiteness of the eyes called jaundice.
How do you know you have got it?
 Alpha thalassemia major
 Because alpha globin is a necessary component of all major
hemoglobins and some minor hemoglobins, absence of all
functioning alpha globin genes leads to serious medical
consequences that begin even before birth. Affected fetuses
develop severe anemia as early as the first trimester of
pregnancy. The placenta, heart, liver, spleen, and adrenal
glands may all become enlarged. Fluid can begin collecting
throughout the body as early as the start of the second
trimester, causing damage to developing tissues and organs.
Growth retardation is also common. Affected fetuses usually
miscarry or die shortly after birth. In addition, women carrying
affected fetuses are at increased risk of developing
complications of pregnancy and delivery.
How do you get rid of it?
 Beta thalassemia
 Individuals with beta thalassemia major receive regular blood transfusions,
usually on a monthly basis. This helps prevent severe anemia and allows for
more normal growth and development. Transfusion therapy does have
limitations, however. Individuals can develop reactions to certain proteins in the
blood—called a transfusion reaction. This can make locating appropriately
matched donor blood more difficult. Additionally, the body is not able to get rid of
the excess iron that accompanies each transfusion. An additional medication
called desferoxamine is administered, usually five nights per week over a period
of several hours, using an automatic pump that can be used during sleep or
taken anywhere the person goes. This medication is able to bind to the excess
iron, which can then be eliminated through urine. Another promising new
treatment is bone marrow transplantation, in which the bone marrow of an
affected individual is replaced with the bone marrow of an unaffected donor. If
successful, this treatment can provide a cure. However, there is an
approximately 10-15% chance the procedure could be unsuccessful (i.e. the
thalassemia returns);
How do you get rid of it?
Hemoglobin H
Hemoglobin H disease is a relatively mild form of thalassemia that may go
unrecognized. It is not generally considered a condition that will reduce
one's life expectancy. When severe anemia occurs, it is treated with blood
transfusion therapy. For individuals with hemoglobin H disease, this is rarely
required. For those with the severe form of the disease, the need for
transfusions may be intermittent or ongoing, perhaps on a monthly basis
and requiring desferoxamine treatment. Individuals with this more severe
form of the disease may also have an increased chance of requiring
removal of an enlarged and/or overactive spleen.
Alpha thalassemia major
Pregnancy termination provides one form of management. In recent years,
there have been a handful of infants with this condition who have survived
long-term. Most of these infants received experimental treatment including
transfusions before birth, early delivery, and even bone marrow
transplantation before birth, although the latter procedure has not yet been
successful. For those infants that survive to delivery, there seems to be an
increased risk of developmental problems and physical effects, particularly
heart and genital malformations.