Mediterranean anaemia characterized by abnormal formation of hemoglobin

Thalassemia is an inherited blood disorder in which the body produces an abnormal form of hemoglobin which
results in excessive destruction of red blood cells and further leads to anemia
abnormal hemoglobin formed results in improper oxygen transport and destruction of red blood cells
People with thalassemia make less hemoglobin and have fewer circulating red blood cells than normal
Thalassemia can cause complications, including iron overload, bone deformities, and cardiovascular illness
25,000 deaths in 2013

Signs and symptoms

Iron overload: Too much iron can result in damage to the heart, liver, and endocrine system, which includes
glands that produce hormones
Infection: People with thalassemia have an increased risk of infection
Bone deformities: halassemia can make the bone marrow expand, which causes bones to widen. This can result
in abnormal bone structure, thin and brittle, increasing the risk of broken bones.
Slowed growth rates: Anemia can cause a child's growth to slow
Heart problems: Diseases, such as congestive heart failure and abnormal heart rhythms
High blood pressure
Jaundice

Treatment for thalassemia often involves regular blood transfusions and folate supplements.
Persons who receive significant numbers of blood transfusions need a treatment called Iron chelation
therapy to remove excess iron from the body
Folic acid
Bone marrow transplant may help treat the disease in some patients, especially children
Perform splenectomy if transfusion requirements are increasing

If only one of your parents is a carrier for thalassemia, you may develop a form of the disease called
thalassemia minor. If this occurs, you will probably not have symptoms, but you will be a carrier of
the disease. Some people with thalassemia minor do develop minor symptoms.
If both of your parents are carriers of thalassemia, you have a 25 percent chance of inheriting a more
serious form of the disease.

Beta thalassemia
Beta thalassemia comes in two serious types: thalassemia major (also called Cooleys anemia) and thalassemia
intermedia.
The symptoms of thalassemia major (Cooleys anemia) generally appear before a childs second birthday. The
severe anemia related to this condition can be life-threatening. Other symptoms include:

fussiness

paleness

frequent infections

poor appetite

failure to thrive

jaundice (yellowing of the skin and whites of the eyes)

enlarged organs
This form of thalassemia is usually so severe that it requires regular blood transfusions.
Thalassemia intermedia is a less severe form of beta thalassemia. While people with this condition still have
anemia, they do not need blood transfusions.

How Is Thalassemia Diagnosed?

A doctor who is trying to diagnose thalassemia will typically take a blood sample. It will be tested for anemia and for
abnormal hemoglobin. A lab technician will also look at the blood under a microscope to see if the red blood cells
appear misshapen. Abnormally shaped red blood cells are a symptom of thalassemia. Another test may be performed
called hemoglobin electrophoresis. This test separates out the different molecules in the red blood cells, allowing the
abnormal type to be identified.
Depending on the type and severity of the thalassemia, a physical examination might also help in the diagnosis. For
example, a severely enlarged spleen might suggest to your doctor that you have hemoglobin H disease.

Hemoglobin in the blood carries oxygen from the respiratory organs (lungs or gills) to the rest of the body