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Paras Advanced Centre for Fetal Medicine offers prenatal/ antenatal thalassemia screening for pregnant mothers.

The purpose of antenatal screening (screening that is carried out during pregnancy) is to check for inherited disorders such as sickle cell anaemia and to provide parents with information they need to make informed decisions.

Pregnant women are routinely screened for the thalassemia trait. If they test positive their partner will also be offered the test. If both parents have the thalassemia trait, there is a 1 in 4 chance their baby will have thalassemia.

Further testing is available (if you want it) to confirm whether your baby will definitely be born with thalassemia. There are three methods of doing this:

  1. chorionic villus sampling (CVS) – during CVS, a small sample of placenta (the organ that is attached to the womb lining during pregnancy) is removed from the womb and tested
  2. amniocentesis – a small sample of the fluid inside the womb (amniotic fluid) is taken for testing
  3. foetal blood sampling (FBS) –  under local anaesthetic, a small sample of blood is taken from your baby’s umbilical cord, or from the umbilical vein as it passes through their liver
About Thalassemia

Thalassemia is the name of a group of genetic inherited disorders of the blood. More specifically, it is a disorder of the haemoglobin molecule inside the red blood cells. It is an inherited genetic disease, i.e. a disease that is passed from parents to children through the genes. It is not infectious and cannot be passed on from one individual to another by personal or any other contact, through blood transfusion, food or air. The two main types of thalassemia are β (beta) and α (alpha). Both affect the production of normal haemoglobin – a key constituent of human red blood cells.

Thalassemia is one of the most common genetic disorder in the world. An estimated 250 million people, that is, 4.5% population of the world is affected by Thalassemia. This is just a rough estimate and the real thalassemia population can far exceed that number.

In India, about 3.9% people are carriers. Most of them don’t even know that they are carriers of this crippling disorder. 8-10 Thousand Thalassemia major children are born annually in India. In Delhi one out of every 18 children born is a Thalassemia carrier.

Thalassemia Major patients require life long repeated blood transfusions and costly medicines for their survival. Often the blood transfusion needs to be carried out on monthly basis. Of course, it depends on individual cases. Some even require it every week. The proper managing of this disease requires, besides these transfusions, costly medicines, including Desferal injections that need to be infused over a period of several hours. That means the patient has to keep the injection and the infusion pump attached to the body over a period of ten-twelve hours, several days a week.

The only treatment available is Bone Marrow Transplant, which is very expensive and risky.

We can say that thalassemia is incurable, except for the BMT procedure, which of course is out of reach for most patients.

However, IT IS PREVENTABLE!All unmarried persons and those married persons who are planning to have a child (even though their existing children are normal) should get themselves tested for Thalassemia carrier status by a blood tests called CBC, HbA2, Hb Electrophoresis or Hb HPLC. These blood tests are quite affordable and are carried out by all hospitals and Path. labsPregnant women should always get themselves screened for thalassemia.

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