Thalassemia: what is it, signs, symptoms, diagnosis, is it curable?


What is thalassemia?

Thalassemia is a hereditary disease that is characterized by a reduction in the number of red blood cells, also known as erythrocytes or erythrocytes, which can lead to the development of anemia .

Also known as Mediterranean anemia or Cooley’s anemia, its name comes from the Greek ( thalassa = sea; haemas = blood). It is not contagious and is caused by a genetic fault , being considered an autosomal recessive disease.

The disease can cause fatigue , bone problems, yellow skin, and a host of other symptoms. It has different degrees of severity and, although there is no cure, it has treatment .

It depends on the degree of severity of the disease. It may include regular blood transfusions, folic acid intake and chelation treatments. Occasionally, bone marrow transplantation may be an option.

By 2013, it is estimated that thalassemia has affected 280 million people, with approximately 439 thousand of them affected by severe versions of the disease.

The disease is more common in people with specific ancestry, as it has characteristics similar to sickle cell anemia , being resistant to malaria .

It is not caused by nutritional deficiencies and its carriers can lead a normal life, without presenting many problems, if they are treated correctly.

Hemoglobin: what is it and what has to do with thalassemia?

The thalassemia is connected to a fault in the production of hemoglobin , an essential spherical protein found in blood cells and red responsible for transporting oxygen through the bloodstream. It is the one that gives the blood reddish color, because it contains a large amount of iron.

Hemoglobins are composed of 4 globins, which are differentiated into alpha, beta, gamma and delta globin. The different combinations of the four globins form different types of hemoglobin, each responsible for carrying different amounts of oxygen and dominant at specific stages of life. Hemoglobin A, composed of two alpha chains and two beta chains, for example, is the most common and dominant in adults.

Thalassemia causes, more specifically, deficiency in the production of alpha, beta and, in rare cases, the delta globins. This causes hemoglobins to develop deficient, consequently affecting red blood cells.

Tipos de thalassemia

Thalassemia is categorized based on the type of globin with deficient production. This means that, in general, there are three variations of the disease: alpha, beta and delta thalassemia.

Within these classifications, there are three levels of severity in thalassemia: the smallest ( minor ), which is asymptomatic, the intermediate ( intermedium ) and the largest ( major ), which are symptomatic.

Alpha thalassemia

It is characterized by the absence of the production of alpha globin chains. It is caused by deficiency in at least 1 of the 4 genes responsible for the production of alpha globins and presents in four different degrees of severity.

Asymptomatic carrier

An asymptomatic carrier shows loss of function in 1 of the 4 genes responsible for the production of alpha globins. Usually, he has no symptoms of thalassemia. This means that the patient does not have the disease, but can pass it on to their children.

Thalassemic carrier

The thalassemia carrier shows loss of function in 2 of the 4 genes responsible for the production of alpha globins. He also has no symptoms, but on a complete blood count he may have microcytic and hypochromic anemia, similar to minor beta thalassemia.

Hemoglobin H disease

Hemoglobin H disease occurs when there is a loss of function in 3 of the 4 genes responsible for the production of alpha globins.

In this case, patients have hemolytic anemia (autoimmune version of the disease, which destroys red blood cells), splenomegaly (enlarged spleen) and / or skeletal changes resulting from increased erythropoiesis (excessive production of red blood cells), symptoms similar to those of intermediate beta thalassemia.

Fetal hydrops (Bart’s hemoglobin fetal hydrops syndrome)

It happens when there is a loss of function in the 4 genes responsible for the production of alpha globins. This case is incompatible with life. Affected babies die before birth or shortly after delivery. It causes hepatomegaly (inflammation of the liver) and death.

Beta thalassemia

It is the most common type of thalassemia, characterized by reduced production of beta globins. It occurs with 3 variations.

Beta-thalassemia trait

Also known as beta minor thalassemia , this variation is usually asymptomatic and occurs in heterozygous patients (when the person receives a normal gene from one parent and a defective gene from the other). Patients with a beta-thalassemia trait may have mild anemia and usually do not need treatment.

Intermediate beta thalassemia

This variation causes mild or even severe anemias. It may be necessary for the patient to receive blood transfusions periodically (every 2 to 4 weeks) from birth. It is caused by a mutation that may have been inherited only from the father or mother.

Cooley’s anemia

Also called beta major thalassemia or Mediterranean anemia, this variation occurs when both genes responsible for the production of beta globins are damaged or silenced. It is the most serious variation of beta thalassemia, causing severe anemia and requiring regular blood transfusions.

Delta thalassemia

Characterized by the deficiency in the production of delta globins, it is a less severe type of thalassemia, since approximately only 3% of hemoglobin in adults is composed of the combination of alpha and delta globin chains.

Minor, major and intermediate thalassemia

Both alpha thalassemia and beta thalassemia have different levels of severity. They are given the names of minor ( minor ), intermediate ( intermedium ) and major ( major ).

Thalassemia menor

It happens when the individual is heterozygous. It is usually just a carrier of the disease. It is asymptomatic.

Intermediate thalassemia

It is the least severe symptomatic form. In most cases, the patient will not be dependent on blood transfusions.

Major thalassemia

It is the most serious form of the disease. Patients with this variation usually depend on blood transfusions for the rest of their lives. It happens to homozygous recessive patients (in the case of beta thalassemia) or compound heterozygotes (in the case of alpha thalassemia).

Causas from thalassemia

Thalassemia is an inherited autosomal recessive genetic disease, that is, it only manifests itself when the child inherits defective genes from the father and mother.

It occurs because of DNA mutations transmitted from parents to their children. If both parents have thalassemia, the chances of their children being born with more severe variants of the disease are greater.

It is related to changes in one of chromosomes 16, which regulates the production of alpha globin chains, or to changes in chromosomes 11, responsible for the production of beta, gamma and delta globin chains.

These changes, caused by mutations or deletions, can result in the reduction or complete absence of any of these globin chains.

It works like this: in the case of alpha thalassemia, the person receives inheritance from two chains from the father and two chains from the mother, being considered a thalassemic carrier when at least 1 of the 4 chains is defective. In the case of beta thalassemia, the child receives a chain from the father and a chain from the mother, being considered a carrier of thalassemia when 1 of the 2 chains is defective.


Thalassemia is a hereditary disease and, therefore, is not transmissible. It happens due to mutations in the genes responsible for the production of alpha globins or beta globins passed from parents to their children.

In its severe forms, the disease is usually autosomal recessive, that is, when the genes coming from the mother and father are defective.

Groups of risk

Because it is hereditary, that is, passing from father to son, risk groups are usually related to the family tree. Therefore, the main risk groups are:

People with a family history

If any of the parents, grandparents or close relatives are carriers or have the disease, the chances of their children and grandchildren being affected by it are greater.

People with specific ancestry

Depending on ancestry, the chances of being affected by thalassemia are greater. People of South Asian, African descent, from countries in the Middle East (Israel, Lebanon, Turkey, etc.) or from countries bordering the Mediterranean Sea (Italy, Greece, Libya, etc.), are more likely to be affected by thalassemia.

This is because mild thalassemia has characteristics similar to sickle cell anemia, which makes them more resistant to malaria. So, through the process of natural selection, in regions where there is a predominance of malaria, thalassemia people live longer, reproduce more and, thus, perpetuate the thalassemia genes.


The symptoms of thalassemia will vary according to the severity of the disease. People who only have a defective gene and are carriers, for example, may never experience symptoms. In babies, on the other hand, the presence of signs can happen from birth or during the first 2 years of life.

The main symptoms related to thalassemia are:

  • Fatigue;
  • Irritability;
  • Vulnerability to infections;
  • Growth delay;
  • Panting;
  • Accentuated pallor;
  • Jaundice (yellowish skin);
  • Lack of appetite;
  • Reduced weight gain;
  • Weakness;
  • Developed abdomen;
  • Abnormal growth of the spleen;
  • Bone changes;
  • Dark urine.

How is thalassemia diagnosed?

Most children with moderate or severe thalassemia show signs of the disease in the first two years of life. In cases where the disease is suspected, the doctor usually orders a series of tests to prove the diagnosis.

Tests that measure the level of iron in the blood and DNA tests can reveal symptoms and diagnose thalassemia or the presence of mutated hemoglobin genes.

They usually reveal the following results:

  • Low levels of red blood cells;
  • Exacerbated presence of microcytes (erythrocytes smaller than usual);
  • Pale red blood cells (with iron deficiency);
  • Variation in the size of red blood cells;
  • Uneven distribution of hemoglobin, creating red blood cells “in target” (with hemoglobin poorly distributed, giving the appearance of a target to the erythrocyte).

In addition to these tests, the most commonly requested are:

Prenatal Testing

The prenatal test, as its name denounces, is done before the baby is born and accurately determines whether or not the baby will have thalassemia and, if so, what the degree of the disease will be. Prenatal tests are:

Sampling of chronic villi

This test is done at approximately the 11th week of pregnancy. In it, a small piece of the placenta is removed for further analysis.


This test is done at approximately the 16th week of pregnancy and involves the transabdominal aspiration of a small amount of amniotic fluid from the amniotic pouch for testing later.

Complete erythrocyte count

In this test, a red blood cell count is made to determine the diagnosis of anemia. Because anemia is a strong indicator of the presence of thalassemia, this test can be used to diagnose the disease.

Hemoglobin electrophoresis

A blood sample is collected from the vein in the arm. Normally, 4 hours of fasting is required before collection. The sample is then subjected to an electric current, where the different types of hemoglobins separate from each other.

The results are compared to the normal, healthy pattern, and the presence of abnormal hemoglobins is verified.

Can thalassemia cure? What is the treatment?

Because it is a hereditary genetic disease, unfortunately thalassemia has no cure . However, there is treatment. The sooner the disease is identified, the greater the chances of the child reaching adulthood.

The treatments, however, depend on the type and degree of the disease. Individuals with thalassemia major alpha or thalassemia major beta will need regular blood transfusions. On the other hand, people with milder degrees of thalassemia may never need any treatment.

Treatment for minor thalassemia

Minor thalassemias hardly need treatment. What may be necessary, eventually, is the replacement of folic acid in the body. Occasionally, it may be necessary to perform blood transfusions, especially after surgery, after childbirth, or to treat complications of the disease.

However, people with minor beta thalassemia need a blood transfusion. This treatment can cause iron overload in the blood, which can cause damage to some organs, requiring the use of medications, such as deferoxamine, to treat these symptoms.

Treatment for major thalassemia

As they are more serious, the larger thalassemias need more regular treatments, such as:

Regular / frequent blood transfusions

The most severe forms of thalassemia require blood transfusions every two to four weeks. The problem is that, over time, transfusions can cause damage to the heart, liver and other organs. So, to alleviate the symptoms caused by this treatment, the use of drugs to decrease iron in the bloodstream may become necessary.

Bone marrow transplant

Bone marrow transplantation is only recommended for very specific cases and with a high degree of severity. It serves to reduce the need for frequent blood transfusions or even to eliminate your need.

It is usually done with compatible donors, such as a close relative, such as a father, mother or brother.

Medicamentos para thalassemia

Because frequent blood transfusions can cause damage to various organs in the body because of excess iron in the body, doctors may recommend some medications. Are they:

  • Deferoxamine : This active ingredient captures the free and excess iron found in both plasma and cells, helping to excrete it.
  • Desferasirox : This medicine is composed of a molecule that has a high affinity for iron, binding to it and helping the body to excrete it, especially through the feces.


NEVER self-medicate or stop using a medication without first consulting a doctor. Only he will be able to tell which medication, dosage and duration of treatment is the most suitable for his specific case. The information contained in this website is only intended to inform, not in any way intended to replace the guidance of a specialist or serve as a recommendation for any type of treatment. Always follow the instructions on the package insert and, if symptoms persist, seek medical or pharmaceutical advice.

Treatment through feeding

For each of the two types of symptomatic thalassemia there are specific nutritional recommendations.

Intermediate thalassemia

In intermediate thalassemia it is very important to prioritize the intake of:

  • Calcium – Present in green vegetables, spinach, kale, tofu broccoli, almonds and nuts, calcium intake is very important, as it helps to strengthen bones that may be weakened due to the disease.
  • Folic acid – Present in lentils, beans and dark green vegetables such as kale, spinach, broccoli and parsley, the intake of folic acid stimulates the body to increase blood production, which helps to alleviate the symptoms of anemia.
  • Vitamin D – Present in fish, eggs or milk and dairy products, vitamin D increases the fixation of calcium in the bones, helping to fight and prevent osteoporosis.

Major thalassemia

In the case of thalassemia major, it is important to avoid eating foods rich in iron, such as liver, red meats, seafood, egg yolks and beans , because, as there is already an excess of iron in the body because of blood transfusions, further increasing the amount of iron in the blood is not recommended.

Another important tip is to increase the intake of foods that hinder the absorption of iron in the intestine, such as milks and derivatives of black tea . During a dinner in which the main dish is red meat, for example, the dessert can be a yogurt, which is rich in calcium and hinders the absorption of the iron present in the meat.

Living with thalassemia

Because it is a disease without a cure and that, in many cases, requires treatment for the rest of life, many people have difficulties when it comes to absorbing the diagnosis and living with the disease.

Each person reacts differently to the diagnosis of thalassemia and feelings such as anger , shame, guilt, anxiety , worry, fear and sadness are common. But there is nothing wrong with feeling them.

All of these feelings are normal and are part of everyday life for all human beings. However, they can often become a barrier to treatment. Therefore, it is very important to know how to deal with them, both if you are a patient affected by thalassemia and if you are a parent, relative or caregiver of someone who has the disease.

For that reason, here are some tips:

For patients

Having thalassemia is difficult. The disease has a series of impacts on a daily basis, making you have to adapt to your condition. Therefore, it is very important to learn to know yourself, so that living with the disease is easier.

Tell others how you feel

Sharing your feelings with others is very important to assimilate the disease and live better with it.

It is better to express your feelings, even the bad ones, to other people, especially those closest to you, than to keep them, ignore them, remove them and even deny them.

Putting them out increases the chances of facing the problem firmly and solving them more easily.

If you are unable to do with family or close friends, for whatever reasons, seek help from a professional, such as a psychologist or psychotherapist, and create with him a place of your own, a safe haven where you can express your feelings without feel afraid or guilty about it.

Look for support groups

In these groups you can meet people who are in the same condition as you. They are the best type of person to share their feelings with, as they are experiencing the same problem.

They are the people who will best understand what you are going through, provide you with emotional support and help you find solutions to your own problems.

Do activities that give you pleasure

When you’re feeling bad, try to force yourself to do things you like. It can be a physical activity, like playing a sport, or relaxing, like reading a book. Most of the time, you will feel better afterwards.

The more positive you are, the easier it will be to solve your problems.

Learn to be empathetic

Empathy is feeling what the other person feels. It is putting yourself in the other’s place. By learning to do this, you can better understand how others feel and why they act the way they do.

For example, when your parents are being boring and insisting that you comply with treatment regularly and with discipline, try to put yourself in their shoes and understand why they are acting this way.

This will improve your coexistence with the people around you and, consequently, help you to deal better with your condition.

For parents or caregivers

As a parent or caregiver of a child with thalassemia, it will be up to you to make the decisions that will impact your child’s life and well-being. It is up to you to help your child cope better with the disease.

Have positive attitudes

Thalassemia is a genetic disease. It’s not your fault. So there is no reason to feel guilty or ashamed for having passed the disease on to your child. If you feel guilty about it, you may be able to make your child feel that way too.

Instead, try to be positive. Advances in the treatment of the disease allow the child to live a long and productive life. Tell your child how proud you are of the way they are dealing with the disease and encourage him or her to be proud of it too.

Also, be resilient and demonstrate strength. In this way, you pass them on to your child and inspire him to deal better and more positively with his condition.

Seek support

Thalassemia is a complicated disease and it is not possible to know everything about it. Therefore, always be willing to seek help from health professionals, such as doctors, nurses and social care professionals.

They can help you find methods and solutions to the problems you are facing and give your child more complete support.

Establish a treatment plan

Once you have created a treatment routine, follow it to the letter. Go to all medical appointments, help your child take medication regularly, and follow medical advice. This increases the chances of a healthy and peaceful life.

Be empathetic

Try to understand how your child feels and try to be a safe haven for him. So both you and him will live better with the disease.

Encourage your child to exercise

Instead of emphasizing the risks and problems of the disease, encourage him to play sports and live a normal life. This will make his life healthier and can aid treatment and even improve symptoms.

Oh, and a tip: if possible, practice physical activities together. In addition to taking care of your health and your child’s health, you will have time to create emotional bonds. It is an extra bonus.


Possible complications of thalassemia include:

Iron overload

People with thalassemia can acquire a high amount of iron in the blood, both by greater intestinal absorption, caused by the disease itself, and by the iron released by the red blood cells received in the transfusions.

Excessive iron in the blood can result in damage to the heart, liver and endocrine system, including hormonal glands. The consequences of excess iron are the most frequent causes of death in thalassemia patients from the second decade of life onwards.

Spleen enlargement (Splenomegaly and hypersplenism)

The spleen is the one that helps the body fight diseases and filter out unwanted materials, such as damaged blood cells. Thalassemia often causes the destruction of a large number of red blood cells, which causes the spleen to work more than normal.

Splenomegaly can worsen the symptoms of anemia, reducing the life of blood cells, including transfused ones. If the spleen becomes too large, the doctor may suggest removal of the organ (splenectomy).


Especially in cases where it was necessary to remove the spleen, the susceptibility to infections is much greater.

Bone deformity

In more severe cases, thalassemia can cause bone marrow expansion, which can lead to bone expansion. This can cause bone structure to be abnormal, especially in the face and skull.

Expansion of the bone marrow can also result in thinner and more fragile bones, increasing the chances of breaking the bones.

Endocrine changes

The irregular transport of oxygen to the organs can cause them to malfunction. In this way, glands responsible for essential hormones can develop irregularly and more slowly, slowing down the body’s natural processes, such as growth and puberty.

In addition, this irregular development can lead to diseases such as diabetes and hypoparathyroidism.

Heart problems

Due to excess iron in the body from transfusions, thalassemia can cause symptoms such as arrhythmia, heart murmur, cardiomegaly (abnormal heart growth) and left ventricular hypertrophy.

How to prevent thalassemia?

In most cases, thalassemia cannot be prevented.

However, if you want to have a child and have the disease or have a defective gene, talk to a geneticist. It may indicate different techniques, such as assisted reproduction.

Assisted reproduction

Assisted reproduction techniques ( in vitro fertilization ) can be a great option for parents who carry defective hemoglobin genes and want their child to be born without problems.

This technique involves removing eggs and fertilizing them with pre-selected sperm in the laboratory. Embryos are tested for the presence of defective genes. Thus, only those without genetic defects are selected and implanted in the uterus.

Thalassemia is a disease without a cure, but with treatment. Its carriers can live a normal life as long as they follow the medical recommendations and some of the tips mentioned in this text to the letter.

More doubts about thalassemia? Leave them in the comments! We will be happy to answer them!