Premarital Screening

A premarital test is a test that offers a crucial health assessment of soon-to-be married couples in which they are tested for genetic, infectious and transmissible diseases to prevent any risk of transmitting any disease to each other and their children.

Marriage is considered a remarkable event in a couple’s life, as they plan to start a family, and through which they usher in a new stage in terms of building emotional, social, familial and healthy relationships.

Premarital testing programs should educate couples, providing accurate and unbiased information. Family background, hereditary factors, age, diet, exercise, weight management and addictions all contribute to the bigger picture.

For couples considering marriage, pre-marital screening helps identify potential health problems and risks for themselves and also their offspring. It is vital for couples to be screened in order to aid them to understand their genetics and help them take the necessary precautions or treatments.

    Importance of Pre-marital Screening:

  • Gauge the positive health status of prospective bride and groom
  • Detect infectious diseases – Hepatitis B infection, HIV, HCV and other sexually transmitted diseases
  • Identify carriers of genetic disorders, in order to assess the risk of having children with a severe form of disease. The couple can then choose whether or not to have an affected child. e.g. Thalassemia, Haemophilia and Sickle Cell Disease

Tests that constitute Pre-marital Screening:

  • Routine Investigations – Complete Blood Count (CBC), Complete Urine Analysis and Peripheral Blood Smears to check for normal and abnormal cells. Blood group testing (ABO-RH) is important to screen out the Rh-negative women and counsel them about the risks in pregnancy
  • Infectious Diseases
    • VDRL for Syphilis Testing
    • HIV – I and II
    • Hepatitis-B Screening
    • Hepatitis-C Virus
  • Genetic Tests
    • Doctors usually go for culture based genetic screening. Depending on your family history and ancestry, different tests are designed for different disorders like thalassemia
    • The tests are especially referred in ‘consanguineous marriages’ or relationships by blood or common ancestry, in which the chances of offspring inheriting a recessive allele for a disease are increased. The closer the relationship, the greater the risk
    • Genetic tests are done by analyzing small samples of blood or body tissues

Thalassemia

Thalassemia is an inherited blood disorder (passed from parents to children through genes). Anaemia is a disorder in which your body doesn’t have enough normal, healthy Red Blood Cells (RBC).

Overall estimate of ß-Thalassemia carriers is 35-45 million among India’s population of over a billion people. Estimated number of births of affected babies annually would be 10,000-12,000. Causing a Social, Psychological and Financial Burden


When thalassemia is called “alpha” or “beta,” it refers to the part of haemoglobin that isn’t being made. If either the alpha or beta part is not made, there aren’t enough building blocks to make normal amounts of haemoglobin. Low alpha is called alpha thalassemia. Low beta is called beta thalassemia.

When the words “trait,” “minor,” “intermedia,” or “major” are used, these words describe how severe the thalassemia is. A person who has thalassemia trait may not have any symptoms at all or may have only mild anaemia, while a person with thalassemia major may have severe symptoms and may need regular blood transfusions.

What is Thalassemia Minor?

People with a thalassemia mutation only in one gene are known as carriers or are said to have thalassemia minor. Thalassemia minor results in no anaemia or very slight anaemia. People who are carriers do not require blood transfusion or iron therapy, unless proven to be iron deficient.

What is Thalassemia Major?

Children born with thalassemia major usually develop the symptoms of severe anaemia within the first year of life. Lacking the ability to produce normal adult haemoglobin, children with thalassemia major:

  • Are chronically fatigued
  • Fail to thrive
  • Do not grow normally

If both parents carry thalassemia minor, their children may have thalassemia minor, or they may have completely normal blood, or they may have thalassemia major. In each pregnancy there is a one in four (25%) chance that their child will have normal blood, a two in four (50%) chance that the child will have thalassemia minor or a one in four (25%) chance that the child will have thalassemia major

How is Thalassemia diagnosed?

Thalassemia is diagnosed by the following tests:

  • Complete Blood Count (CBC with blood smear)
  • Iron studies
  • Haemoglobinopathesis (Hb) Evaluation: This test measures the type and relative amounts of haemoglobin present in the red blood cells. Haemoglobin A, composed of both alpha and beta globin, is the normal type of hemoglobin found in adults. A greater percentage of Hb A2 and/or F is usually seen in beta thalassemia trait. Hb H may be seen in alpha thalassemia due to Hb H disease. Other Haemoglobinopathesis – HbD, HbE, HbS
  • DNA Analysis: This test is used to investigate deletions and mutations in the alpha and beta globin producing genes. DNA testing is not routinely done but can be used to help diagnose thalassemia and to determine carrier status

HOW IS THALASSEMIA TREATED?

The treatment for thalassemia depends on the type and severity of disease involved. Your doctor will give you a course of treatment that is customized for you particular case.

INFECTIOUS DISEASES

Infectious diseases like HIV, Hepatitis B Virus (HCV), Hepatitis B Virus (HBV), Syphilis and Sexually Transmitted Disease (STD).

Among the blood-borne viruses transmissible through the parenteral route, by blood transfusion, as well as, by sexual intercourse, Human Immunodeficiency Viruses (HIV), Hepatitis B Virus (HBV) and Hepatitis C Virus (HCV) are important and have several implications.

Pre-marital Screening also helps rule out carrier status of potentially life-threatening infectious diseases like the HIV and HBV. The World Health Organization (WHO) notes that HBV is 50 – 100 times more infectious than HIV. HBV can be passed from mother to baby during birth. Therefore, it is imperative to safeguard yourself from these potentially life-threatening diseases with simple screening.

Not only do they establish asymptomatic persistent infections, but they also cause significant morbidity and mortality when transmitted through transfusion of blood and blood products.

Failure to diagnose and treat STDs at an early stage results in serious complications and sequelae, including infertility, fetal wastage, ectopic pregnancy, cancer and death.

Tests to remember

  • CBC
  • Hb Electrophoresis
  • Iron Studies
  • Ferritin
  • Transferrin
  • TIBC
  • Alpha Thalassemia
  • Beta Thalassemia
  • Pre-Marital Screening Package: CBC, Blood Group, VDRL, HIV, HbsAg, Hb Electrophoresis, HCV
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