Mediterranean Anemia – Thalassemia

February 7, 2017

Mediterranean anemia, also known as Thalassaemia or Cooley’s anemia, is a group of inherited blood disorders that affect the body’s ability to produce hemoglobin and red blood cells – patients have a lower-than-normal number of red blood cells in their bodies and too little hemoglobin. In many cases the red blood cells are too small.

Those afflicted have less hemoglobin and fewer red blood cells than normal. Hemoglobin is a protein that allows red blood cells to carry oxygen throughout the body and to carry carbon dioxide to the lungs to be exhaled. When the body does not have enough oxygen supplied to its organs and tissues, it causes fatigue.

The most common symptoms of Mediterranean anemia are fatigue and weakness due to the lack of oxygen being distributed throughout the body. Sufferers of the disorder may also experience shortness of breath, unusual paleness, or a yellowing of the skin called jaundice. Symptoms range from mild to severe, and can be present as early as birth. Some patients do not experience any symptoms at all, while others may not show signs of the disorder until later in life.

Mediterranean anemia patients can get an overabundance of iron in their bloodstreams from the disease or frequent blood transfusions. Infections are also common due to blood transfusions and can be serious, as with hepatitis. Severe cases can cause bone deformities, enlarged spleen, slowed growth rates, and heart problems, including congestive heart failure and abnormal heart rhythms.

It is estimated that approximately two million persons living in the United States may be carriers of the gene that causes thalassemia.


Mediterranian Anemia is caused by flawed or missing genes. There are several types:

Beta thalassemia major – A person with this type of thalassemia has inherited 2 defective genes. This is the most severe type of beta thalassemia. People affected will need frequent blood transfusions and may not live a normal lifespan. During the first year or two of life, affected babies can be pale, fussy, and have a poor appetite. They may also have many infections. Other symptoms are slowed growth, abdominal swelling, and yellowing of the skin (jaundice). Without treatment, the spleen, liver, and heart become enlarged. Bones can also become thin, brittle, and deformed. Iron builds up in the heart and other organs from blood transfusions. This can cause heart failure as early as the teens or early 20s.

Beta thalassemia minor or thalassemia trait – Only one gene is defective. This causes less severe anemia. It is further divided into –

  • Thalassemia minima – A person has few or no symptoms.
  • Thalassemia intermedia – A person has moderate to severe anemia.

People with thalassemia minor have a 50% chance of passing the gene to their children. If the other parent is not affected, their children would then also have thalassemia minor.

Many people are given iron replacement under the mistaken belief that their anemia is the iron-deficient type. Since too much iron can be harmful, it is important to get the right diagnosis. People may need to see a specialist in blood disorders called a hematologist.

Risk Factors

Factors that increase the risk of Mediterranean Anemia include –

  • Family history of thalassemia – Thalassemia is passed from parents to children through mutated hemoglobin genes. If a person has a family history of thalassemia, he may have an increased risk of the condition.
  • Certain ancestry – Thalassemia occurs most often in people of Italian, Greek, Middle Eastern, Asian and African ancestry.


The majority of infants with Mediterranean Anemia will not have symptoms until they reach six months, because they start off with a different type of hemoglobin called fetal hemoglobin. After the age of six months “normal” hemoglobin starts replacing the fetal one.

  • Jaundice
  • Fatigue
  • Pale skin
  • Cold hands and feet
  • Shortness of breath
  • Poor feeding
  • Delayed growth
  • Skeletal deformities – in some cases as the body tries to produce more bone marrow
  • Too much iron – the body will try to absorb more iron to compensate. Iron may also accumulate from blood transfusions. Excessive iron can harm the spleen,heart and liver
  • Greater susceptibility to infections
  • Delayed puberty


Untreated, thalassemia major leads to heart failure and liver problems. It also makes a person more likely to develop infections.

Blood transfusions can help control some symptoms, but carry a risk of side effects from too much iron.


Blood transfusions – This is done to replenish hemoglobin and red blood cell levels. Patients with moderate to severe thalassemia will have repeat transfusions every 4 months, while those with more severe disease may require transfusions every two to four weeks. Patients with mild symptoms may require occasional transfusions when they are ill or have an infection.

Iron chelation – Involves removing excess iron from the bloodstream. Sometimes blood transfusions can cause iron overload. Iron overload is bad for the heart and some other organs. Patients may be prescribed subcutaneous (injected under the skin) deferoxamine or oral (taken by mouth) deferasirox.

Folic acid supplements may be prescribed for patients who are administered blood transfusions and chelation.

Bone marrow transplant – Also called a stem cell transplant. Bone marrow is a spongy tissue that exists in the hollow centers of large bones. Bone marrow cells produce red and white blood cells, hemoglobin and platelets.

Surgery – Some patients with bone abnormalities may require surgery.

Alternative Treatment

Antineoplastons – Antineoplastons are a group of naturally occurring peptide fractions that have been studied for the treatment of various cancers, though antineoplaston therapy is not approved by the U.S. Food and Drug Administration (FDA). In recent years, antineoplastons have also been suggested as treatment for other conditions such as sickle cell anemia and thalassemia, but there is a lack of sufficient evidence from high-quality studies to support the use of antineoplastons for these indications.

Chelation – One of the original uses of chelation therapy with calcium disodium EDTA was the treatment of heavy metal poisoning. Chelation remains an accepted therapy in medical institutions for lead toxicity, and several studies report lower levels of lead in the blood and slower progression of kidney failure. Chelation therapy may also be used when toxic levels of iron, arsenic, or mercury are present. Patients with thalassemia that require frequent blood transfusions often have elevated iron levels and possible iron toxicity.

Zinc – Limited human study has noted that children with beta-thalassemia who took oral zinc supplements for one to seven years increased in height more than those who did not take zinc. More research is needed to confirm these findings. Zinc is generally regarded as safe and well-tolerated when taken at recommended doses.

Wheatgrass – Evidence suggests that wheatgrass may be beneficial for patients with beta thalassemia. Its use may decrease the number of blood transfusions needed. However, further research is needed before a firm conclusion can be drawn. Wheatgrass is generally considered safe.

Arginine (L-arginine), chelation (EDTA) therapy, taurine, and vitamin E for improving health.


Reference –,P00081/