Thalassemia

1 What is Thalassemia?

Thalassemia is a genetic blood disorder characterized by the production of defective hemoglobin, the carrier of oxygen in red blood cells. Abnormal form of hemoglobin triggers excessive destruction of red blood cells, causing anemia.

There are different forms of thalassemia, of which alpha thalassemia and beta thalassemia are the two main types.

Mild form of thalassemia may not require any specific treatments. Regular blood transfusions are the need for controlling severe form of thalassemia.

Severe form of thalassemia may lead to organ damage, restricted growth, heart failure and even death.

Good nutrition and a healthy lifestyle help in alleviating fatigue and weakness, two most common symptoms of thalassemia. 

2 Symptoms

Symptoms of thalassemia depend on the type and severity of the condition. General symptoms of beta thalassemia include

  • Jaundice
  • Fatigue
  • Pale skin
  • Cold hands and feet
  • Shortness of breath
  • Lack of appetite
  • Restricted growth
  • Skeletal deformities
  • Swelling in abdomen
  • Dark colored urine

Alpha thalassemia is characterized by mild to moderate anemia.

Fatigue, drowsiness, cold hands and feet, chest pain, headaches, dizziness, and shortness of breath are noted in this type of thalassemia.

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3 Causes

Thalassemia is caused by mutations in specific genes that produce hemoglobin.

The mutated genes are inherited by children and hence thalassemia is considered as an inherited blood disorder. Defective hemoglobin reduces the level of hemoglobin in blood and increases the destruction of red blood cells.

Type of thalassemia depend on the number of gene mutations that result in the condition. The part of hemoglobin affected by the mutation also decides the type of thalassemia. Alpha thalassemia is caused by a mutation in the gene that produces the alpha chain of hemoglobin. Mutations in genes that code for beta chain of the hemoglobin result in beta thalassemia. Severity of symptoms depends on the number of mutated genes.

  • Alpha thalassemia – four genes are involved in the production of alpha chain. If one of the genes is mutated, the condition is asymptomatic. But the person remains a carrier of mutated gene and can pass it on to the next generation. Mild symptoms of anemia are noted with mutations in two of the genes. Two mutated genes leads to alpha thalassemia minor. Moderate to severe symptoms are produced by mutations in three of the alpha chain genes. The resulting condition is known as hemoglobin H disease. Alpha thalassemia major is caused by mutations in all four genes of alpha chain. Alpha thalassemia major may lead to still birth or death of the newborn shortly after delivery.
  • Beta thalassemia – there are two genes that make the beta chain of hemoglobin. Mutation in one of the genes result in beta thalassemia minor, a condition characterized by mild symptoms of anemia. Mutations of both genes lead to beta thalassemia major or Cooley’s anemia. The newborns with this condition are usually healthy at birth. Symptoms of anemia develops within a year or two. Mutations of both genes may also lead to another form of thalassemia called beta thalassemia intermedia.

Having a family history of thalassemia is the major risk factor for developing this condition. It is more commonly found in people of certain ancestry like Italian, Greek, Middle Eastern, Asian, and African.

4 Making a Diagnosis

Diagnosis of thalassemia is mostly based on blood tests. Blood test reveals

  • Lesser than normal levels of red blood cells
  • Small size of red blood cells
  • Variations in size and shape of blood cells
  • Bull’s eye -- a condition in which the red blood cells appear like bull’s eye due to unequal distribution of hemoglobin. 

Blood test is also used to measure levels of hemoglobin and to perform DNA analysis for checking gene mutation.

Prenatal testing helps to identify the presence of this condition in the fetus. It also helps to assess the severity of thalassemia in the infant. In chorionic villus sampling, a small sample of the placenta is examined to check for abnormalities in genes.

Amniocentesis, a procedure in which fetal cells present in the amniotic fluid is checked, also helps to identify gene mutations in the fetus.

5 Treatment

Treatment depends on the type and severity of thalassemia. Specific treatment is not needed for mild forms of thalassemia.

In some cases, blood transfusion may be required in mild forms, particularly after a surgery or childbirth. Patients with beta-thalassemia have iron overload as one of the symptoms, which has to be treated. Excess iron in the body is removed using medications like deferasirox.

Blood transfusions and stem cell transplant are suggested to control moderate to severe form of thalassemia. Blood transfusions are usually done every few weeks.

Frequent transfusions tend to cause iron overload which is controlled by medications. Bone marrow transplant or stem cell transplant is the appropriate treatment strategy for severe form of thalassemia.

As a first step, the defective bone marrow is destroyed using chemotherapy or radiations. Healthy stem cells from a donor is then infused into the blood stream. The stem cells migrate to the bone marrow and start producing healthy red blood cells.

6 Prevention

Thalassemia cannot be prevented in most of the cases.

Genetic counselling will help in understanding the risk of child developing this condition. 

7 Alternative and Homeopathic Remedies

Homeopathic remedies suggested in the treatment of different types of thalassemia include:

  • avena sativa,
  • arsenicum album,
  • lecithinum,
  • ceanothus americanus,
  • manganum aceticum,
  • thyroidinum,
  • calcarea phos,
  • and alfalfa

.

Herbs rich in folate and zinc are also found to be useful in controlling symptoms of this blood disorder.

Chinese herbal medicine Busui Shengxue Fang is used to boost the bone marrow cells for producing healthy red blood cells. 

8 Lifestyle and Coping

Lifestyle modifications are necessary in order to cope with thalassemia.

A balanced diet is important in improving fatigue and weakness, two most common symptoms of thalassemia.

Folic acid supplements help to improve production of red blood cells. Take adequate precaution against infections.

Flu-shots, vaccines, and basic hygienic habits will go a long way in preventing infections. Avoid excess iron in diet, unless recommended. 

9 Risks and Complications

There are several risks and complications associated with thalassemia.

Thalassemia may result in iron overload due to blood transfusions.

Iron overload damages organs like heart, liver, and endocrine system.

There is an increased susceptibility to infections.

Severe thalassemia may also lead to skeletal abnormalities, restricted growth, heart problems, and enlarged spleen.            

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