FAQ - Thalassemia Screening

Thalassemia Screening

Thalassemia is a group of diseases characterized by inherited absence or reduced hemoglobin in the red blood cells. Hemoglobin is a protein which carries oxygen from the lungs to the cells for metabolism. Thus reduced or absent hemoglobin leads to reduced oxygen carrying capacity of blood what is called as anemia. These varying degrees of anemia range from insignificant to life-threatening. Thalassemias are of various types and have various trends of inheritance. Depending on the inheritance affected population is divided into major and minor traits. Thalassemias are common in Indians with an incidence ranging from 1:10,000 and 1:40,000.

Major trait : 1. Immediately after birth the person having thalassemia can suffer from severe anemia requiring blood transfusion. 2. These individuals would require blood transfusions on and off throughout their lives. 3. In addition the individual also requires medicines to remove the excess iron buildup due to repeated transfusions.

 Minor trait : 1. These persons can suffer from longstanding anemia which does not respond to iron therapy . Diagnosis of this condition is based on the clinical signs. Laboratory diagnosis is essential for exact diagnosis .Counseling with respect to therapy, childbearing and resource availability is essential as this is an inherited disorder. Screening is recommended to determine the trait status for individuals of high risk ethnic group. ( e.g. Asians )

Following are the tests performed for screening of thalassemias : Complete blood count This is done to determine the level of hemoglobin and the grade of anemia. Also the morphology of the red blood cells is studied. Small red blood cells and other abnormalities of these cells are identified. Hemoglobin electrophoresis To know the type and the quantity of Hemoglobin Free erythropoietin Protoporphyrin estimation or serum ferritin levels: to assess the degree of iron overload. Screening for thalassemia can be undertaken in individuals who are chronically anemic, or in family members of affected individuals. It is recommended in high prevalence areas.

 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. Sometimes investigations may have to be performed in a pregnant woman to screen her unborn fetus for thalassemia, especially when there is a family history of this trait. Also in those pregnant women who themselves have thalassemia trait. There are various investigations that can be performed depending on the duration of the pregnancy .These tests are all interventional and are as follows: – Chorion villus biopsy : It is performed at 10 weeks of pregnancy where a part of developing placenta is sampled. – Amniocentesis: It is performed at 15-22 weeks of pregnancy duration where the fluid around the baby is sampled. – Cordocentesis: The cord blood of the baby while in the womb is sampled. All these prenatal tests are invasive and have to be performed with proper patient selection thoroughly weighing all the pros and cons. It is especially important that the minor thalassemia trait individuals seek premarital and preconception counseling before matrimony and starting a family. Such counseling can be offered by physicians and gynecologists. It is important that we in India as a population in the endemic area are aware of this disease and prepare ourselves for screening for thalassemia for better planning of our future progeny.


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