Thalassemia Test

thalassemia-screeningThalassemia is a genetic disorder of the blood that affects a person’s ability to produce hemoglobin, resulting in anemia. About 100,000 babies worldwide are born with severe forms of thalassemia each year.The two main types of Thalassemia are “alpha” and “beta”.

Types of Thalassemia

Major

  • Immediately after birth, a person having thalassemia can suffer from severe anemia requiring blood transfusion.
  • These individuals would require blood transfusions every 3-4 weeks to maintain their hemoglobin levels.
  • In addition the individual also requires medicines to remove the excess iron build up due to repeated transfusions.
  • Due to transfusions they are at a risk of blood transfusion related infections like Hepatitis C, Hepatitis B, HIV.
  • Iron overload can cause severe damage to all vital organs like heart, lung, liver, kidney etc.

Minor

  • These individuals are prone to suffer from longstanding anemia which does not respond to iron therapy. Diagnosis of this condition is based on clinical signs.
  • Counseling with respect to therapy, childbearing and resource availability is essential as this is an inherited disorder. Carriers of beta thalassemia do not have a bothersome condition and do not need to worry about any development over time. Some carriers may experience mild anemia, which may be inaccurately diagnosed as iron deficiency anemia, hence a special diet or medical aid is not required.

Testing Indicators

The most severe form of alpha Thalassemia major causes stillbirth (birth of a deceased child).

Children born with beta thalassemia major (Cooley’s anemia) are normal at birth, but develop severe anemia during the first year of life.  Other symptoms can include

  • Bone deformities in the face
  • Fatigue
  • Growth failure
  • Shortness of breath
  • Yellow skin (jaundice)

People with the minor form of alpha and beta Thalassemia have small red blood cells (which are identified by looking at their red blood cells under a microscope), but no symptoms.

Thalassemia Diagnosis

A Complete Blood Count test (CBC)

Hemoglobin electrophoresis by HPLC method to estimate Hb A2 levels.

How to prevent baby with Thalassemia major

  • Step 1: Get your partner and yourself tested for thalassemia before marriage.
  • Step 2: If both your partner and you are thalassemia minors, consult your doctor for prenatal diagnostic test.

It can be done in following clinical situations

  • As a part of battery of investigations of the newborn
  • As a part of preconception investigation
  • Persons suffering from chronic anemia and not responding to treatment.

Newborn Screening and Definitive Diagnosis

All abnormal newborn screening test results indicating beta thalassemia require precise and confirmatory blood tests, sometimes including testing of parents and siblings for actual diagnosis.