What’s thalassemia ?

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Thalassemia is a type of anemia, people with thalasemia has less hemoglobin and fewer red blood cells in your body than normal. Hemoglobin carries oxygen, therefore low hemoglobin can lead to low oxygen and then fatigue.

Mild thalassemia usually doesn't require treatment, a more severe one requires regular blood transfusions.

Thalassemia is an inherited disorder, it's caused by DNA mutation.
I was told that it occurs in people of African and Island cultures.  It is a mutation  gene that wards off the mosquito  virus found in Africa.  Is this correct?
Not exactly. Thalassemia is a genetic disease. You inherit it from your parents and you have it from birth. It’s worth mentioning that you can’t catch thalassemia the way you catch a cold or the flu. Thalassemia mainly occurs in the tropics and is common in the Mediterranean coast. It’s not confined to African or island culture since it is also common in the coastal cities in Asian countries. According to the WHO report, more than 100 million people are the carriers of thrombotic mutant gene.

The type of thalassemia you have depends on the number of gene mutations you inherit from your parents and which part of the hemoglobin molecule is affected by the mutations. The more mutated genes, the more severe your thalassemia. Hemoglobin molecules are made of alpha and beta parts that can be affected by mutations.

Alpha-thalassemia

Four genes are involved in making the alpha hemoglobin chain. You get two from each of your parents. If you inherit:

  • 1 mutated gene, you'll have no signs or symptoms of thalassemia. But you are a carrier of the disease and can pass it on to your children.
  • 2 mutated genes, your thalassemia signs and symptoms will be mild. This condition may be called alpha-thalassemia trait.
  • 3 mutated genes, your signs and symptoms will be moderate to severe.
  • 4 mutated genes. This type is rare. Affected fetuses have severe anemia and usually are stillborn. Babies born with this condition often die shortly after birth or require lifelong transfusion therapy. In rare cases, a child born with this condition may be treated with transfusions and a stem cell transplant, which is also called a bone marrow transplant.

Thalassemia minor

Two genes are involved in making the beta hemoglobin chain. You get one from each of your parents. If you inherit:

  • 1 mutated gene, you'll have mild signs and symptoms. This condition is called thalassemia minor or beta-thalassemia.
  • 2 mutated genes, your signs and symptoms will be moderate to severe. This condition is called thalassemia major, or Cooley anemia. Babies born with two defective beta hemoglobin genes usually are healthy at birth but develop signs and symptoms within the first two years of life. A milder form, called thalassemia intermedia, also may occur with two mutated genes.

There are several lab tests may be used to help detect and diagnose thalassemia:

Complete blood count (CBC). 

CBC determines the number of red blood cells present and how much hemoglobin is in them. It evaluates the size and shape of the red blood cells present, reported as the red cell indices. These include the mean corpuscular volume (MCV), a measurement of the size of the red blood cells. A low MCV is often the first indication of thalassemia. If the MCV is low and iron deficiency has been ruled out as a cause, thalassemia should be considered.

Blood smear (also called peripheral smear and manual differential).

In this test, the number and type of white blood cells, red blood cells, and platelets are evaluated to see if they are normal and mature. With thalassemia, the red blood cells often appear smaller than normal (microcytic, low MCV). Red cells may also:

  • Be paler than normal (hypochromic)
  • Vary in size and shape (anisocytosis and poikilocytosis)
  • Be nucleated (normal, mature RBCs do not have a nucleus)
  • Have uneven hemoglobin distribution (producing "target cells" that look like a bull's-eye under the microscope)


Iron studies. 

These may include: iron, ferritin, UIBC, TIBC, and percent saturation of transferrin. These tests measure different aspects of the body's iron storage and usage. The tests are ordered to help determine whether an iron deficiency is the cause of a person's anemia. 

  • Alpha thalassemia is sometimes confused with iron deficiency anemia because both disorders have smaller than usual (microcytic) red blood cells. If someone has thalassemia, his or her iron levels are not expected to be low. Iron therapy will not help people with alpha thalassemia and may lead to iron overload, which can cause organ damage over time.
  • Erythrocyte porphyrin tests may be used to distinguish an unclear beta thalassemia minor diagnosis from iron deficiency or lead poisoning. Individuals with beta thalassemia will have normal porphyrin levels, but those with the latter conditions will have elevated porphyrin.


Hemoglobinopathy (Hb) evaluation (hemoglobin electrophoresis). 

This test assess the type and relative amounts of hemoglobin present in red blood cells. 

  • Hemoglobin A (Hb A), normally makes up 95% to 98% of hemoglobin in adults. 
  • Hemoglobin A2 (HbA2) is usually 2% to 3% of hemoglobin in adults.
  • Hemoglobin F usually makes up less than 2%.

Beta thalassemia upsets the balance of beta and alpha hemoglobin chain formation and causes an increase in those minor hemoglobin components. So individuals with the beta thalassemia major usually have larger percentages of Hb F. Those with beta thalassemia minor usually have elevated fraction of Hb A2. Hb H is a less common form of hemoglobin that may be seen in some cases of alpha thalassemia. Hb S is the hemoglobin more common in people with sickle cell disease.

DNA analysis. These tests are used to help confirm 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, if indicated.

Is this thalassemia a type of sickle cell? I'm a sickle cell trait, I'm doing well.
No, thalassemia isn't a type of sickle cell. Being sickle cell trait it's usually fine.
Thalassemia is an inherited (i.e., passed from parents to children through genes) blood disorder caused when the body doesn’t make enough of a protein called hemoglobin, an important part of red blood cells. When there isn’t enough hemoglobin, the body’s red blood cells don’t function properly and they last shorter periods of time, so there are fewer healthy red blood cells traveling in the bloodstream.

Red blood cells carry oxygen to all the cells of the body. Oxygen is a sort of food that cells use to function. When there are not enough healthy red blood cells, there is also not enough oxygen delivered to all the other cells of the body, which may cause a person to feel tired, weak or short of breath. This is a condition called anemia. People with thalassemia may have mild or severe anemia. Severe anemia can damage organs and lead to death.
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