Tests For Thalassemia And Sickle Cell Disease

What Exactly is Sickle Cell Anemia?

Sickle-cell anaemia is an autosomal recessive condition defined by the existence of a mutant form of haemoglobin called haemoglobin. Sickle cell disorder (SCD) is a major cause of death and morbidity that occurs when the oxidation reaction in haemoglobin proteins is substituted by a gene that codes.

Sickle-cell anaemia is a recessive condition produced by any one of the dependent variables, according to Mendelian inheritance:

  • Autosomal dominant inheritance
  • Autosomal syndrome
  • Sex-related dominance
  • Recessive in both sexes

Mendelian disorder is another name for sickle cell anaemia. Under these circumstances, the oxygen-binding ability of haemoglobin atoms is decreased, and the mutation protein changes shape from biconcave to shape.

What Exactly is Thalassemia?

Thalassemia is a genetic blood condition in which the body generates an abnormally large amount of haemoglobin. This disorder causes a significant amount of (red blood cells) RBCs to be destroyed, resulting in anaemia. It is an X-linked recessive disorder passed down from one of the donor’s parents.

Sickle Cell and Thalassemia Screening

  • SCD (Sickle cell disease) and Thalassemia are hereditary blood illnesses.
  • You may transmit these illnesses to your child if you carry the sickle cell or thalassemia trait.
  • Those who are at high risk of developing sickle cell disease are given a sickle cell test.
  • The father is likewise screened if the mom is discovered to be a transmitter.
  • This testing should be available before you are ten weeks pregnant. The exam must be completed as soon as possible.
  • If you discover you're a carriage, you and your partner could have further testing to see whether your kid may be affected.

Thalassemia and Sickle Cell Disease Diagnostic Tests

Genetic and Blood Testing

You can get your blood tested if you are unsure if you produce sickle haemoglobin. A genetic test on your blood may also be conducted. In this manner, you can find out if you have a sickle haemoglobin gene or trait you might transmit to a kid.

Genetic testing can assist in establishing the form of sickle cell disease you already have and verify a diagnosis if blood test findings are unclear. Genetic testing can also determine whether you possess either one or two alleles of the sickle haemoglobin gene.

Prenatal Testing

Until a baby is born, healthcare practitioners can identify sickle cell disease. This is accomplished by using a specimen of amniotic fluid, fluid inside the sac around a developing embryo, or a piece of tissue obtained from the placental. This organ connects the umbilical cord to the womb.

Testing can start as soon as eight to ten weeks into pregnancy. Rather than the defective haemoglobin itself, this test checks for the sickle haemoglobin gene. This screening cannot forecast the disease's progression.

Screening of Newborns

Blood samples from a foot prick are gathered on a particular paper in newborn testing programs. This blood's haemoglobin is then analysed in a lab. The findings of newborn screening are given to the practitioner who requested the test as well as your child's healthcare provider.

If your kid has sickle cell disease, professionals from a special follow-up newborn testing unit will approach you personally. Your kid will then be retested by their physicians to ensure that the diagnosis has been confirmed.


If you have Asian, African, or Mediterranean ancestors, you are more likely to be familiar with sickle cell illness and Thalassemia. These conditions are examples of hereditary anaemias, which are blood abnormalities that damage red blood cells and can be handed down through generations.

In most circumstances, Thalassemia cannot be avoided. If you suffer from Thalassemia or possess a thalassemia gene, you should consult a genetic counsellor for advice if you wish to have offspring. If you have any symptoms like this and consider the symptoms of Thalassemia and Sickle Cell Disease, then Apollo Hospital provides different services in and around labour, including the best doctors. 

Request an appointment at Apollo Cradle, Bengaluru - Koramangala. Call 1860-500-1066 to book an appointment.

1. What is the most important factor to consider while testing for Thalassemia and sickle cell?

A blood test is used to screen for sickle cell and Thalassemia. It is preferable to take the test when you are ten weeks pregnant. This is because if the initial test reveals that you are a carrier of a blood condition, you will be able to undergo additional testing to determine if your baby would be impacted.

2. What tests may be done to diagnose Thalassemia?

Blood testing can confirm the diagnosis if your doctor believes your kid has Thalassemia. Blood tests can identify the number of red blood cells in the body and any abnormalities in volume, shape, or colour.

3. What is the best effective test for identifying sickle cell disease?

The best way to test for sickle cell trait or illness is to examine the blood using a technique called HPLC (high-performance liquid chromatography).

4. Is it possible to have both sickle cell and Thalassemia?

A kind of sickle cell anaemia is sickle cell beta-thalassemia. It happens when a child gets both the characteristics of sickle cells and the beta-thalassemia gene from their parents. As a result, a person's RBCs are sickle-shaped and produce little or no haemoglobin.

5. When is Thalassemia detected?

Moderate to chronic Thalassemia is often diagnosed during childhood, usually during the first two years of existence. Because Thalassemia is a characteristic handed down through maternal DNA, family genetic tests can aid in diagnosing the illness.

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