Thalassemia Trait Screening: a Real Need in the Community
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Thalassemia Trait Screening: a Real Need in the Community

Written by
Dr. Goswami Parth Rajendragiri
and medically reviewed by iCliniq medical review team.

Published on Mar 12, 2018 and last reviewed on Aug 10, 2023   -  5 min read


Thalassemia is a form of hemolytic anemia. It is an autosomal recessive disorder. If two individuals with 'thalassemia minor trait' marry, the chance of the offspring having thalassemia major is 25 %. Hence it's screening is necessary in our community.

Thalassemia Trait Screening: a Real Need in the Community

What Is Thalassemia?

Thalassemia is a genetic disorder where there is abnormal hemoglobin production. This inherited disability of hemoglobin production, with a partial or complete failure to synthesize a specific type of globin chain, leads to a condition known as hemolytic anemia, in which RBC breakdown occurs. Mild jaundice can also occur.

What Are the Types of Thalassemia?

There are two types of thalassemia:

  1. Thalassemia can be,

  1. Alpha thalassemia.

  2. Beta-thalassemia.

  1. Thalassemia can be,

  1. Thalassemia minor.

  2. Thalassemia major.

1. Alpha and Beta-Thalassemia:

Alpha Thalassemia - In alpha thalassemia, deletion of one or both genes on the short arm of chromosome 16 may occur, with the production of some or no alpha globin chains. This reduced or absent alpha chain synthesis is common in Southeast Asia.

Since there will be a pair of alpha chain genes, the clinical manifestation depends on the number of genes deleted. Accordingly, alpha thalassemia can be classified into four types:

  1. One alpha gene deletion, there is no clinical effect.

  2. Two alpha gene deletion, there may be mild hypochromic anemia (clinically - microcytic hypochromic blood picture but no anemia).

  3. Three alpha gene deletion, the patient has hemoglobin H disease or HbH disease (clinically - hemolytic anemia). Haemoglobin H is a beta-chain tetramer that is formed from the excess of beta chains, which is functionally useless so that patients rely on their low levels of HbA for oxygen transport. Treatment of hemoglobin H disease is folic acid supplementation, transfusion if required, and avoidance of iron therapy.

  4. Four alpha gene deletion, the baby is stillborn, that is, hydrops fetalis (clinically - fatal in utero).

Beta Thalassemia - In beta-thalassemia, there is defective production of mutations causing no or reduced beta chain production. The failure to synthesize beta chains (beta-thalassemia) is the most common type of thalassemia, which is most prevalent in the Mediterranean areas.

Depending upon the extent of reduction in beta chain synthesis, they are classified as,

  1. Heterozygous form (beta thalassemia minor).

  2. Homozygous form (beta thalassemia major).

  3. Beta thalassemia intermedia.

a) Heterozygous Form (Beta-Thalassemia Minor): Heterozygotes have thalassemia minor, a condition in which there is usually mild anemia and little or no clinical disability, which may be detected only when iron therapy for mild microcytic anemia fails. It is a mild asymptomatic condition in which there is moderate suppression of beta chain synthesis. The diagnostic features include,

  • Mild anemia.

  • Microcytic hypochromic erythrocytes (not iron-deficient).

  • Some target cells.

  • Punctate basophilia.

  • Increase in hemoglobin A2 fraction.

b) Homozygous Form (Beta-Thalassemia Major): Homozygotes have thalassemia major, and it is the most severe form of congenital hemolytic anemia and requires blood transfusions.

It is a condition where they are unable to synthesize hemoglobin A and produce very little hemoglobin, and after the first 4 to 6 months of life, they develop profound hypochromic anemia. They are further divided into two types,

  • Beta degree thalassemia major characterized by the complete absence of beta chain synthesis.

  • Beta plus thalassemia major is having incomplete suppression of beta chain synthesis.

The diagnostic features include,

  • Profound hypochromic anemia.

  • Severe red cell dysplasia.

  • Erythroblastosis.

  • Absence or reduction of hemoglobin A.

  • Increase in levels of hemoglobin F.

  • Evidence that both parents have thalassemia minor.

c) Beta-Thalassemia Intermedia: These are beta-thalassemia of an intermediate degree of severity that does not require regular blood transfusions.

2. Thalassemia Major and Minor:

Thalassemia Minor - It is where the patient inherits the gene from either parent and becomes a carrier but does not have symptoms.

Thalassemia Major - It is where the patient inherits a copy from both parents and has symptoms of severe anemia soon after birth. Here, there are several subtypes.

Thalassemia minor patients do not require a blood transfusion. They can normally live, whereas the thalassemia major patients need frequent blood transfusions, almost every 20 to 30 days. So, the detection of thalassemia minor might happen retrospectively only when a thalassemia major child is born.

What Are the Symptoms of Thalassemia?

There are several different types of thalassemia, and the signs and symptoms depend on the type and severity of the condition. Some babies start to show symptoms at the time of birth, and some start to show up after two years of age. But people affected with only one hemoglobin do not show symptoms. The common symptoms of thalassemia are,

  • Fatigue.

  • Pale or yellowish skin.

  • Abdominal swelling.

  • Facial bone deformities.

  • Slow growth.

  • Weakness.

  • Dark urine.

How Are People With Thalassemia Diagnosed?

In order to avoid a thalassemia major child, it is really necessary to investigate for thalassemia minor before marriage or at least before conception. There are various screening methods, but ideally, to confirm thalassemia minor, HPLC (high-performance liquid chromatography) electrophoresis is the standard gold test.

So, both partners should be investigated with HPLC electrophoresis from a blood sample. 9.2 ml of blood is needed, and it is taken in an EDTA vacuette.

CBC and peripheral smear examination also can guide and can give a clue for thalassemia minor diagnosis, but they are not confirmatory. CBC shows low MCV and high RBC, and peripheral smear shows target cells and fragmented RBC.

If thalassemia minor screening has not been done before marriage, the investigation should at least be done before conception or before planning a pregnancy.

Due to lack of awareness, if the screening has not been done before marriage or conception, in the antenatal check-up, the screening should be done for the mother in the first trimester. The child's thalassemia status can also be detected in the antenatal period by invasive procedures like amniocentesis or cordocentesis. Many international organizations are working to subsidize charges for the screening test.

A thalassemia major child requires frequent blood transfusions, and the lifespan is also shortened. This increases the financial load on the family. So, this simple article is to create awareness among all the readers to kindly investigate for thalassemia minor, ideally before marriage.

What Are the Factors That Increase the Risks and Complications of Thalassemia?

Risk factors:

  • Family history of thalassemia - This disease is passed from parents to children through mutated hemoglobin genes.

  • People living in Africa, America, the Mediterranean, and Southeast Asia.


  • Iron overload due to frequent blood transfusions.

  • Increased risk of infections.

  • Bone marrow deformities make the bone brittle, bone marrow to widen, abnormal bone structure in the face and skull, and increased chances for the bone to break.

  • An enlarged spleen occurs due to the destruction of a large number of red blood cells. It can worsen anemia, and the doctor suggests surgery to remove it.

  • Children's growth rate is slowed down with delayed puberty.

  • It results in congestive heart failure and abnormal heart rhythms.


In most cases, thalassemia cannot be prevented. In case you have thalassemia, or when you carry a thalassemia gene, talk with a genetic counselor to have children. In the early stages, assisted reproductive technology diagnosis helps in screening an embryo for genetic mutations along with in vitro fertilization. This helps the parents who have thalassemia or who are carriers of a defective hemoglobin gene have healthy babies. So, reach your doctor when you result in any of the above symptoms, risks, or complications.

Frequently Asked Questions


How Serious Is Thalassemia?

Thalassemia is an inherited disorder of the blood wherein there is reduced or abnormal hemoglobin production, a red blood protein molecule carrying oxygen. This leads to excessive destruction of these red blood cells ending up in anemia. Alpha and beta-thalassemia are dangerous types, whereas thalassemia minor is a less severe type. If left untreated can lead to life-threatening complications.


Is Thalassemia Curable?

Medications and supplements provide a supportive cure for the disorder. Repeated blood transfusions with iron chelation therapy and folic acid supplementation are currently the treatment of choice. A stem cell transplant is the only permanent cure for thalassemia.


Is Thalassemia Common?

Thalassemia is not an uncommon disorder. It is a common inherited blood disorder. Thalassemia major has the prevalence of occurence in the tropical and subtropical regions. It commonly occurs in people belonging to South Asia, Italy, Middle East, Greece, Turkey, and Africa.


How Is Thalassemia Detected?

Blood tests reveal thalassemia. A complete blood count shows the number and size of red blood cells, iron, and hemoglobin levels. In thalassemia, both are reduced. Hemoglobin electrophoresis test shows the different types of hemoglobin and detects the abnormal thalassemia hemoglobin. Genetic tests, chorionic villus sampling, and amniocentesis are done in pregnant mothers to diagnose the risk in the fetus.


Does Thalassemia Run in Families?

Thalassemia is an autosomal recessive inherited blood disorder meaning it runs in families mostly. It gets passed on from parents to children genetically. If a child inherits one mutated gene, it becomes a carrier, and if the child inherits two mutated genes, it gets affected by thalassemia.


Can I Give Birth to Babies if I Have Thalassemia?

Thalassemia patients can give birth to babies similar to the normal population, but the risk of passing thalassemia to the baby is high. Also, some women who require blood transfusions are at risk of infertility. A pregnant thalassemia woman has the risk of developing cardiomyopathy and diabetes, impacting fetal growth. It is advisable to get a carrier screening test before or during pregnancy to study the risk of inheritance. Prenatal tests like chorionic villus sampling and amniocentesis are done to detect if the unborn baby has thalassemia.


How Do I Know if My Baby Has Thalassemia?

Babies with less severe thalassemia minor types do not have any symptoms, but babies born with thalassemia major appear normal initially. But soon after a few months, they develop symptoms like pale or yellow skin, shortness of breath, fatigue, headaches, sleeping longer than usual, swollen abdomen, prominent facial bones, stunted growth, and poor appetite. Usually, jaundice and spleen enlargement are present.


Can I Lead a Normal Life With Thalassemia?

People with thalassemia minor tend to lead an everyday life as they seldom have symptoms. Thalassemia major people, however, can lead a normal-like life keeping some risks and complications in mind. As some regularly need blood transfusions, there is a risk of iron overload in the body, causing heart problems, hepatitis, liver problems, enlarged spleen, bone deformities, etc. Hence there is a need for close watching of their health condition.


What Is the Normal Range of Thalassemia?

People with thalassemia major have reduced hemoglobin levels of less than 7 g/dL. Mean corpuscular volume (MCV) is between 50 and 70 fl, mean corpuscular hemoglobin (MCH) is between 12 and 20 pg.


What Should a Thalassemia Patient Eat?

Thalassemia patients need to avoid food rich in iron, such as beef, pork, oysters, liver, beans, tofu, and peanut butter. Grains and packaged cereals should also be avoided. Green leafy vegetables, spinach, watermelon, prunes, raisins, peas, dates, and broccoli must also not be consumed. Orange juice tends to increase iron absorption. Tea, coffee, and dairy tend to decrease iron absorption.


Does Exercise Help Thalassemia?

Exercise, in general, is beneficial for everyone, including thalassemia. However, some thalassemia people experience fatigue and pain, which becomes a hindrance to physical activity. But they are encouraged to indulge in regular physical activity for better muscle mass and bone strength as they are prone to osteoporosis and reduced muscle mass. Based on their ability, they can choose from aerobics, yoga, walking, cycling, etc.


Can I Drink Coffee if I Have Thalassemia?

Coffee has been found to decrease dietary iron absorption. Hence it is beneficial in thalassemia as they are prone to iron overload. Also, coffee contains antioxidants which are also helpful for thalassemia. Therefore, coffee in moderation is beneficial.


Which Body Part Does Thalassemia Affect?

Due to the iron overload, thalassemia can damage the heart, liver, spleen, and endocrine glands like the thyroid and adrenal. It also causes osteoporosis or brittle bones leading to fractures. Reduced muscle mass, generalized fatigue are also observed.


Is Thalassemia Related to Leukemia?

Although it is infrequent to develop thalassemia with leukemia, certain coexisting conditions’ case reports are available. But neither thalassemia nor leukemia increases the risk of each other. However, a scarce thalassemia population with blood transfusions has an increased risk of blood-related and abdominal malignancies than the general population.


Does Thalassemia Cause Down Syndrome?

Thalassemia does not cause Down syndrome. Down syndrome is a chromosomal abnormality. Very rare instances of coinheritance of thalassemia and Down syndrome are reported.


Does Thalassemia Affect Fertility?

Thalassemia minor does not affect fertility, while thalassemia major with blood infusions are prone to infertility. Iron overload causes endocrine abnormalities and hormonal deficiencies. As a result, their reproductive health is affected. In men, sperm production is affected. Underdeveloped penis and testicles are noted. In women, it affects the menstrual cycle, ovum production. Some develop late sexual maturation or abnormal sexual maturation, which hinders fertility.


How to Treat Thalassemia Effectively?

Mild forms of thalassemia do not require treatment. Severe conditions need frequent blood transfusions, which in turn cause iron overload in the body. Iron chelation therapy is implicated in removing the excess iron levels as they pose health complications. Folic acid supplementation is done to cure anemia. A bone marrow transplant from a compatible donor is the permanent cure.

Last reviewed at:
10 Aug 2023  -  5 min read




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