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Beta (β) Thalassemia: Screening and Prenatal Diagnosis

December 3, 2020

Your life depends on the blood running through the veins. Without blood life is impossible! The most important part of a red blood cell (RBC) is the haemoglobin. It is a proteinous structure that carries oxygen to the different parts of the body. Any abnormalities in the haemoglobin level, structure, or composition, can be fatal to health.

Beta Thalassemia is one such structural defect in the haemoglobin. Haemoglobin is a tetramer composed of two alpha(α) type globin chains and two beta (β) type globin chains. Thalassemia is a condition resulted by the reduction or absence of one of the globin polypeptides that makes up the haemoglobin. When one of the β type globin chains is missing, then the condition is termed as Beta Thalassemia.

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What Causes β Thalassemia?

Thalassemias (α or β) are inherited blood disorders. The DNA present in the nucleus (of a cell) is made up of genes that synthesize the α and β chains of the haemoglobin. Any defect in the genes that synthesizes the β chain can lead to β Thalassemias.

These genes (present in chromosome 16 and 11) are carried and passed on from parents to children. People who are the carriers of a thalassemia gene often show no symptoms. If both the parents are the carriers, then they usually pass the disease to their offspring.

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What are the types of Beta Thalassemia?

Depending on the mutation of the one or two β globin genes and the severity of the mutations, there are three types of beta thalassemia, they are:

Beta thalassemia minor: It happens when one of the beta globin genes are mutated. It is also known as beta thalassemia trait.

Symptoms: Mildly anaemic and the red blood cells are smaller in size.

Treatment:  They are generally the carrier, therefore, it needs no treatment.

Beta thalassemia intermedia: It happens when both the beta globin genes are mutated but the mutation is less severe.

Symptoms: Moderate to severe anaemia.

Treatment:  May require regular blood transfusions.

Beta thalassemia major: It happens when both of the beta globin genes are severely mutated. This condition is also known as Cooley's anaemia.

Symptoms: Life-threatening anaemia. Symptoms develop after two years of birth.  

Treatment: Requires regular blood transfusions.

Must Read: Thalassemia Tales

How to screen β Thalassemia?

Carrier screening is done to identify the potential threat since 250 million people (4.5%) worldwide are the carriers of a potentially pathologic gene and approximately 300, 000 infants are born each year with a major haemoglobinopathy. Carrier screening is performed in:

High-risk groups:

If both the parents (mother and father) are the carriers of autosomal recessive genes, then there is a 25% chance (one in four kids) of having an affected child.

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Population screening:

Used to find the asymptomatic carriers of recessive conditions.  This is done to understand the reproductive risks and other options. Beta thalassemia is very common in people from the Mediterranean (Greek or Italian) ancestry.

Pregnant women:

It is performed to check if the fetus is affected by the condition or not. You can consult the best gynaecologist near you for more details and information.

How is Beta Thalassemia Diagnosed?

The tests to help diagnose thalassemia are:

  • Complete blood count (CBC):

It is a test where the blood sample extracted from the patients are studied. Here the size, number, and maturity of the RBC are measured in a specific volume of blood to check for any abnormalities.

  • Haemoglobin electrophoresis:

It is a laboratory test which helps in differentiating the different types of haemoglobin present (example haemoglobin F and A2 are seen in beta-thalassemia major).

  • Genetic testing:

It is a medical test that can identify any changes in the chromosomes, genes, or proteins. The results of the test help to determine the chance of an individual developing or passing on a genetic disorder.

To Know More: About Of Scans & Screens

Prenatal Diagnosis of Beta Thalassemia

Prenatal diagnosis is diagnosing a condition of the child (if present) before birth. Parents (carrier of the genes) with a high risk of having a baby with Beta Thalassemia or other problems opt for it. Prenatal Diagnosis of Beta Thalassemia can be performed in any of the following ways:

  • CVS

CVS is performed during the first trimester. In this procedure, the healthcare specialist extracts a small sample of placental tissue from the uterus for lab testing with a catheter (thin tube) through the vagina or through a needle (guided by ultrasound) through the abdomen.

  • Amniocentesis

Amniocentesis is performed during the second trimester to check for any genetic abnormalities (a faulty gene that causes thalassemia), or for any infection. In this procedure, the healthcare specialist extracts a sample of amniotic fluid (liquid around the baby) from the uterus with a thin needle through the abdomen. The fluid is sent to a laboratory for examination and results.

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  • PDG or Preimplantation or Preconceptional Genetic Diagnosis (PGD)

PDG or Preimplantation or Preconceptional Genetic Diagnosis (PGD) checks for the risk of an inherited disorder to avoid the birth of an affected child.

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If the mother and father are both carriers, then this is the best and go-to technique for prenatal diagnosis of β Thalassemia. IVF or In-vitro Fertilization is an in-lab stepwise technique for fertilization where the sperms and eggs (extracted) are taken and fertilized in a laboratory condition. Preimplantation Genetic Diagnosis (PGD) uses the in vitro fertilization (IVF) to create embryos. Here, one or two cells from each embryo developed via IVF is extracted and tested for a specific genetic abnormality (faulty gene). The unaffected embryos are then transferred to the uterus for development.

With today’s development in science, medicines, and technology prenatal screening, fetal medicine, surrogacy, etc. is just a call away, So don’t wait! If you have a doubt call us now!

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