Thalassemia

Definition

Thalassemia is a condition in which the red blood cell protein hemoglobin is abnormal which causes red cell destruction resulting in anemia. The disease is passed down in families.

Alternative namess

Cooley’s anemia, Alpha thalassemia, Beta thalassemia

Causes, incidence and risk factors

Thalassemia is caused when there is defect or absence of gene controlling the production of sub proteins of hemoglobin, the alpha globin and beta globin and called as alpha thalassemia or beta thalassemia respectively. Alpha thalassemia and beta thalassemia both have two types each, thalassemia major and thalassemia minor.

If the thalassemia genes are inherited from both the parents then thalassemia major is caused. In thalassemia minor the thalassemia genes are inherited only from one parent, the symptoms are not seen but the person acts as carrier of the disease.

Family history of the disorder is a risk factor for the disease.

Symptoms

The children born with thalassemia are seemed to be normal at the time of birth but they develop severe anemia within one year. Other symptoms are fatigue, jaundice, growth failure, breathlessness, facial bone deformities, protruded abdomen, dark urine and liver and spleen inflammation.

Patients of thalassemia minor have red blood cells smaller than normal but they do not have any symptoms.

The alpha thalassemia major is the most severe form of thalassemia and it cases stillbirth (death of unborn child during birth in last stage of pregnancy).

Signs and tests

Anemia and inflammation of the spleen are the signs of thalassemia. Blood test is done for complete blood count and morphology of red blood cells. Red blood cells are seen smaller and of abnormal shape under microscope. Hemoglobin electrophoresis is done to confirm the abnormal hemoglobin. A test for mutational analysis is done to detect alpha thalassemia.

Tests are done to diagnose thalassemia in unborn babies in suspected cases. These tests are Chorionic villus sampling, amniocentesis and fetal blood sampling.

Treatment

For thalassemia major regular blood transfusions and folate supplement are required. Iron supplements should not be taken when blood transfusion is given. If large number of blood transfusions have been given then chelation therapy is required to remove the excess iron from the body.

Bone marrow transplant is a treatment option especially helpful in children.

Expectations (Prognosis)

Severe thalassemia can shorten the life. Less severe thalassemia generally do not affect life span. Blood transfusions with chelation therapy improve the outcome.

Complications

Heart failure, liver problems, spleenomegaly, bone deformities, impaired growth in children and infections (due to blood transfusions like hepatitis) are the possible complications of thalassemia major. Blood transfusions bring about symptomatic relief but excess iron (due to blood transfusion) is harmful to liver, heart and endocrine system.

Calling your health care provide

If there are symptoms of thalassemia or some different symptoms appear during thalassemia treatment then immediately calling health care provider is a must.

Prevention

People having family history of the disorder should go for genetic counseling and prenatal screening to prevent thalassemia in their children.

Reference

Nih.gov, wikipedia.com, mayoclinic.com