thalassemia, alpha thalassemia, beta thalassemia, Cooley's Anemia, beta thalassemia major, hemoglobi


  • Posted on- Jun 16, 2017
  • 0

Thalessemia is a genetic blood disorder, in which there are less hemoglobin and fewer red blood cells in the body. Hemoglobin carries oxygen in the blood, low hemoglobin will cause lack of oxygen in different parts of the body. Organs will starve for oxygen and can't function properly. Low red blood cell count will cause anemia, which eventually leads to fatigue. In worldwide, there are around 350,000 births with severe thalassemia.

There are two major types of thalassemia:

  • Beta-thalassemia- Beta-thalassemia major (Cooley's disease) reduces the production of hemoglobin to much lower extent. It's a very serious illness, as hemoglobin is major carrier of oxygen in different organs of body.
  • Alpha-thalassemia: Two types of alpha-thalassemia are present, thalassamia major is a very severe anemia, where anemia occurs even before birth. The mother is itself at the risk of complex pregnancy. And another type of alpha -thalassemia is hemoglobin h disease, where there is moderately severe anemia occurs due to low production of alpha globin chains in hemoglobin.


Symptoms and causes of thalassemia:

  • Symptoms of thalassemia may include:
  • Fatigue
  • Weakness
  • Pale or yellowish skin
  • Facial bone deformities
  • Slow growth
  • Abdominal swelling
  • Dark urine
  • Cause of thalassemia is mainly due to the mutation of any of the 4 genes, or all of the four genes which are required to form hemoglobin. 4 globulin chains are needed to make hemoglobin, imbalance in the globin chains, or inactive globin chain lead to low production of hemoglobin.
  • Mutation in one of the 4 genes will not show any symptoms, the person will be a carrier and not a thalassemia major patient. Increase in mutation genes will lead to major thalassemia symptoms. Mutation in 4 genes is a rare case, and child born with that either die within some months or need a life long blood transfusion therapy. A child born can be treated with a blood transfusion and bone marrow transplant.

Risk factors of thalassemia:

  • Family history of thalassemia: Thalassemia is passed from parents to children through mutated hemoglobin genes. If you have a family history of thalassemia, you may have an increased risk of the condition.
  • Certain ancestry: Thalassemia occurs most often in African-Americans and in people of Mediterranean and Southeast Asian ancestry. People's from united states have less risk of getting thalassemia.

Complications of thalassemia:

Certain complication can occur through long term severe thalassemias, which are:

  • Bone deformities: Thalassemia can result in abnormal bone structure, especially in the face and skull. Bone marrow expansion also makes bones thin and brittle, increasing the chance of broken bones.
  • Enlarged spleen (splenomegaly): Thalassemia is often accompanied by the destruction of a large number of red blood cells. This causes the spleen to enlarge and work harder than normal. Splenomegaly can make anemia worse, and it can reduce the life of transfused red blood cells.
  • Slowed growth rates. Anemia can cause a child's growth to slow. And thalassemia may cause a delay in puberty.
  • Heart problems. Heart problems - such as congestive heart failure and abnormal heart rhythms (arrhythmias) - may be associated with severe thalassemia.


Treatment from moderate to severe thalassemia may include:

  • Medications: Certain medications can decrease the symptoms and help in the red blood cell count, but medication can only be limited to mild to moderate thalassemia.
  • Frequent blood transfusions. More-severe forms of thalassemia often require frequent blood transfusions, possibly every few weeks.
  • Over time, blood transfusions cause a buildup of iron in the blood, which can damage heart, liver and other organs. To help the body get rid of the extra iron, take medications should be taken which may remove extra iron.
  • Stem cell transplant. Also called a bone marrow transplant, a stem cell transplant may be an option in select cases, including children born with severe thalassemia. It can eliminate the need for lifelong blood transfusions and drugs to control iron overload.

Diagnosis of thalassemia:

Suspect of thalassemia in a child is confirmed by doing certain blood test. Blood test reveal certain condition, which are:

  • A low level of red blood cells
  • Smaller than expected red blood cells
  • Pale red blood cells
  • Red blood cells that are varied in size and shape
  • Red blood cells with uneven hemoglobin distribution, which gives the cells a bull's-eye appearance under the microscope

Blood tests may also be used to:

  • Measure the amount of iron in your child's blood
  • Evaluate his or her hemoglobin
  • Perform DNA analysis to diagnose thalassemia or to determine if a person is carrying mutated hemoglobin genes

In case of pregnancy certain diagnosis can be done, which are:

  • Chorionic villus sampling. This test is usually done around the 11th week of pregnancy and involves removing a tiny piece of the placenta for evaluation.
  • Amniocentesis. This test is usually done around the 16th week of pregnancy and involves taking a sample of the fluid that surrounds the fetus.

Thalassemia may be a life threatening disease, but taking correct diagnosis in right time, can decrease the severity of this disease, and help a child to live a healthy life.


Ask a Query