Different types of thalassemia, symptoms and treatment explained 2020

Different types of thalassemia, symptoms and treatment explained 2020


Different types of thalassemia, symptoms and treatment explained 2020

Thalassemia (Mediterranean anemia) is the most common, inherited single gene disorder in the world. The treatment of thalassemias has improved significantly in recent years. People with moderate to severe thalassemia now live longer and have a better quality of life than before.

To understand the effect of thalassemia on the human body, you must first have a little understanding of how blood is made.

Hemoglobin is an oxygen-carrying component of red blood cells. It consists of two different proteins, one alpha and beta. In the event that the body doesn’t deliver enough of one of the two proteins, red blood cells do not form appropriately and can’t carry enough oxygen. The result is anemia that begins in early childhood and lasts a lifetime.

You may not need treatment for mild thalassemia. But if you have a more severe form of thalassemia, regular blood transfusions may be needed. You can also take steps alone, such as eating the right diet to increase your energy.

Because thalassemia is not a single disorder, but a group of related disorders that affect the human body in a similar way, it is important to understand the differences between different types of thalassemia.

Alpha Thalassemia

People whose hemoglobin does not produce enough alpha protein have alpha-ischemia. It is often found in Africa, the Middle East, India, Southeast Asia, South China and occasionally in the Mediterranean.

There are four types of alpha-thalassemia that have mild and severe bodily effects.

Quiet carrier state. This condition usually does not cause health problems because the lack of alpha protein is so small that hemoglobin works normally. It is called a “silent carrier” because it is difficult to recognize. The silent carrier state can be diagnosed if a seemingly normal individual has a child with hemoglobin H disease or alpha-thalassemia.

Hemoglobin constant spring. This is an unusual form of the Quiet Carrier state caused by a mutation in alpha globin. After the Jamaica region in which it was discovered, it is called the permanent spring. As in the quiet carrier state, an individual in such a state usually does not experience any associated health problems.

Alpha Thalassemia property or mild alpha Thalassemia. In this condition, the lack of alpha protein is slightly greater. Patients with this condition have lower red blood cell counts and mild anemia, although many patients do not have symptoms. However, doctors often mistake mild alpha-thalassemia for iron deficiency anemia and prescribe iron supplements that have no effect on anemia.

Hemoglobin H disease. In this condition, the absence of alpha protein is sufficiently huge to cause extreme anemia and severe health problems such as enlarged spleen, bone deformities, and fatigue. Abnormal hemoglobin H (the name created by the remaining beta-globin), which kills red blood cells, is referred to.

Hemoglobin H-Constant spring. This disease is more severe than hemoglobin H disease. Individuals with this condition tend to have more severe anemia and are more likely to suffer from increased and viral infections of the spleen.

Homozygous permanent spring. This condition is a change in hemoglobin H-Constant Spring that occurs when two Constant Spring carriers transfer their genes to their child (as opposed to the H Constant Spring hemoglobin carrier, in which one parent is a constant spring carrier and the other is a carrier alpha) thalassemia trait) . This condition is usually less severe than hemoglobin H Constant Spring and is similar to hemoglobin H disease.

Hydrops Fetalis or Alpha Thalassemia Major. In this condition, there is no alpha gene in an individual’s DNA, which causes fetal gamma globins to produce abnormal hemoglobin called Barts hemoglobin. Most people with this condition die before or shortly after birth.

In extremely rare cases, when the disease was discovered before birth, intrauterine blood transfusions allowed the birth of children with hydropetic fetuses who needed lifelong blood transfusions and medical care.

Beta Thalassemia

Different types of thalassemia, symptoms and treatment explained 2020

Most familiar form of thalassemia is beta-thalassemia. This includes reducing the production of normal adult hemoglobin (Hb A), which is the dominant type of hemoglobin shortly from birth to death. (All hemoglobin comprises of two sections: heme and globin). The globin portion of Hb A has 4 protein segments, called polypeptide chains.

Two of these chains are identical and alpha chains. The other two chains are also the same, but different from the alpha chains and are called beta chains. In patients with beta-thalassemia, the production of beta-globin chains is reduced or absent.

Beta Thalassemia At A Glance

  • Thalassemias are inherited blood disorders.
  • Patients with thalassemia produce defective hemoglobin.
  • There are two forms of beta-thalassemia: minor thalassemia and thalassemia major (also known as Cooley anemia).
  • Beta-thalassemia is more common in people of Italian and Greek descent.
Risk factors

Risk factors for Thalassemia are factors that do not appear to be the direct cause of the disease, but appear to be related in some way. Due to the risk factor for Thalassemia, the disease is exacerbated, but this does not always lead to the development of Thalassemia. Lack of risk factors or lack of protective factor does not necessarily protect against the development of thalassemia.

Factors that increase the risk of thalassemia include:

Different types of thalassemia, symptoms and treatment explained 2020

Family history. Thalassemia is transmitted to parents and children through defective hemoglobin genes.

Origin. Thalassemia is most common in Indigenous peoples in Italy, Greece, the Middle East, South Asia, and Africa. Alpha ischemia mainly affects people of Southeast Asian, Chinese, and Filipino descent.

Signs & Symptoms of thalassemia

Different types of thalassemia, symptoms and treatment explained 2020

The signs and symptoms of thalassemias are due to a lack of oxygen in the bloodstream. This is because the body does not produce enough healthy red blood cells and hemoglobin. The gravity of the symptoms depends on the gravity of the disorder.

No symptoms

Silent carriers of alpha-thalassemia usually show no signs or symptoms of the disorder. This is because the lack of alpha-globin protein is so small that hemoglobin functions normally.

Mild anemia

Those with alpha- or beta-thalassemia may have mild anemia. However, many of these types of thalassemia have no signs or symptoms.
Mild anemia can cause fatigue. It is often confused with iron deficiency anemia.

Other signs and symptoms

Beta-thalassemia intermediates have mild to moderate anemia. There may be other health problems, such as:

Slow growth and delayed puberty. Anemia can affect a child’s growth and development.
Bone problems. Thalassemia can dilate the bone marrow (the spongy substance in the bones that makes blood cells). This causes wider bones than normal. Bones can also be brittle and break easily.
Enlarged spleen. The spleen is an organ that enables your body to battle disease and evacuate undesirable material.

When a person suffers from thalassemia, the spleen has to work very hard. As a result, the spleen will be larger than normal. This makes anemia even worse. If the spleen becomes too large, it should be removed.

Severe anemia and other signs and symptoms

Severe thalassemia is present in hemoglobin H disease or severe symptoms of beta-thalassemia (also known as Cooley anemia). Signs and symptoms occur in the first 2 years of life. These may include severe anemia and other serious health problems, such as:


  • The pale and unusual appearance
  • Bad appetite
  • Dark urine
  • Slow growth and delayed puberty
  • Jaundice
  • Enlarged spleen, liver and heart
  • Bone problems (especially of the cheekbones)


Possible complications of thalassemia include:

Iron overload: People with thalassemia may get too much iron in their bodies, either due to the disease itself or frequent blood transfusions. Too much iron can damage the heart, liver, and endocrine system, including the glands that produce hormones that regulate a process throughout the body.
Infection: Thalassemia increases the risk of developing blood-borne infections such as hepatitis, which can damage the liver.

In severe thalassemia, the following complications may occur:

Bone deformities: Thalassemia enlarges the bone marrow, causing the bones to dilate. This can result in abnormal bone structure, especially on your face and skull. Bone marrow dilation makes bones thin and fragile, increasing the chances of broken bones, especially on the spine. The spinal surface can cause compression of the spinal cord.

Enlarged spleen (splenomegaly): The spleen helps your body fight infection and filter out unwanted material such as old or damaged blood cells. Thalassemia often destroys the number of red blood cells, making it harder for your spleen to work harder than normal and causing it to enlarge.

Splenomegaly can exacerbate the anemia and reduce the life of transfused red blood cells. The spleen may need to be removed if it grows too large.

Slow growth rate: Anemia can slow a child’s growth. Children with severe thalassemia rarely reach normal adult height. Because of endocrine issues, pubescence may likewise be deferred in these children.

Heart issues: Heart issues, for example, congestive cardiovascular failure and unusual heart rhythms (arrhythmias) might be related to serious thalassemia.

Tests & Diagnosis

Laboratory tests

Complete blood count (CBC). CBC is a depiction of the cells and liquid in the circulatory system. The CBC tells the doctor, among other things, how many red blood cells are present and how much hemoglobin it contains. This gives the doctor an assessment of the size and shape of the red blood cells present, also known as red blood cell indices.

These include the measurement of mean corpuscular volume (MCV), the size of red blood cells. Low MCV is often the first sign of thalassemia. If MCV is low and iron deficiency is ruled out, that person may be a carrier of the thalassemia trait.

Blood smear (also known as a peripheral smear and manual differentiation).

In this test, a trained laboratory person examines a thin layer of blood that is treated with a special spot on the slide under a microscope. The number and type of white blood cells, red blood cells, and platelets can be evaluated to check that they are normal and mature. Many disorders affect normal blood cell production. In thalassemia, red blood cells are often microcytes (low MCV). Red blood cells also:

  • Be hypochromic
  • Variable size (anisocytosis) and shape (poikilocytosis)
  • Be nuclear – normal, mature red blood cells have no nucleus.
  • It has an uneven hemoglobin distribution (“they create target cells that look like bull’s eye under a microscope)”.
  • The higher the percentage of abnormal red blood cells, the more likely it is that the residual disorder and oxygen-carrying capacity are reduced.
  • Iron studies.
  • These may be iron, ferritin, unsaturated iron-binding capacity (UIBC), total iron-binding capacity (TIBC), and percentage of transferrin saturation. These tests measure various aspects of the body’s storage and use of iron.

They are instructed to help determine if iron deficiency causes and/or aggravates the patient’s anemia. One or more of these may also be prescribed to monitor the extent of iron overload in patients with thalassemia.

Evaluation of hemoglobinopathy (Hb).

This test measures the type and relative amount of hemoglobin in red blood cells. Hemoglobin A, consisting of alpha- and beta-globin, is a normal type of hemoglobin found in adults. A higher percentage of Hb A2 and/or F usually occurs in the property of beta-thalassemia. Hb H may occur in alpha-thalassemia due to Hb H disease.

DNA analysis.

This test is used to examine deletions and mutations in alpha- and beta-globin-producing genes. Family tests can be performed to assess carrier status and the type of mutations in other members of the family. DNA testing is not performed routinely but can be used to diagnose thalassemia and determine the condition of the carrier.

Treatments of thalassemia

Treatment of thalassemias depends on the type and severity of the disorder. Carriers who have alpha- or beta-thalassemia properties have mild symptoms or no symptoms at all. There is little or no treatment required.

Doctors use three standard treatments for moderate to severe forms of thalassemia. These incorporate blood transfusions, iron chelation (ke-LAY-shun) treatment, and folic acid supplements. Other treatments have been developed or tested, but are much less commonly used.

Standard treatments
Blood transfusion
Iron chelation therapy
Blood and bone marrow stem cell transplantation

Possible future treatments

Scientists are attempting to discover new medications for thalassemias. For example, one day, the normal hemoglobin gene may be inserted into bone marrow stem cells. This allows people to make their own healthy red blood cells and hemoglobin.

Specialists are additionally concentrating how to trigger an individual’s capacity to make fetal hemoglobin after birth. This kind of hemoglobin is found in fetuses and infants. After birth, the body became an adult to produce hemoglobin. Increasing fetal hemoglobin may compensate for the lack of healthy adult hemoglobin.

Treatment of complications

Better treatments allow people with moderate to severe thalassemia to live much longer. As a result, these people have to cope with complications over time.

An important part of treating thalassemias in the treatment of complications. It may be necessary to treat heart or liver disease, infections, osteoporosis and other problems.

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