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Thalassemia

Description
Thalassemia is a type of inherited blood disorder that affects haemoglobin, which is responsible for carrying oxygen throughtout the body. In thalassemia one of the two chains in haemoglobin; alpha or beta chains is affected resulting in haemoglobin not functioning normally. 

There are two types of Thalassemia;

Alpha Thalassemia: This occurs due to the mutation of the genes that control alpha globin production. The severity of alpha thalassemia depends on the number of genes affected. If one gene is affected it is called a silent carrier and the individual will have no symptoms, if two genes are affected it is called alpha thalassemia minor and the affected individual will have mild anemia, if three genes are affected it is called haemoglobin H disease and the individual will have moderate to severe anemia, and if four genes are affected that is called alpha thalassemia major (hydrops fetalis) and this is usually fatal.

Beta Thalassemia: This occurs due to the mutation of the genes that control beta globin production. The number of genes affected determines the severity of beta thalassemia. There are three types of beta thalassemia: beta thalassemia minor in which one gene is affected and the individual has mild anemia, beta thalassemia intermedia in which two genes are affected and the individual has moderate anemia, and beta thalassemia major (cooley's anemia) which has two severly mutated genes which results in severe anemia requiring lifelone treatment.
Causes

Causes of Thalassemia:

Thalassemia is a disease that can only be inherited. A child must inherit a mutated gene from one or both parents to develop the condition. A child that inherits thalassemia can be one of the following:

  • Carrier: One gene mutation; may be asymptomatic or have mild symptoms.
  • Thalassemia major: Mutations in both genes; severe symptoms.
Symptoms

The symptoms of Thalassemia are:

  • Fatigue
  • weakness
  • Jaundice (pale/yellowish skin)
  • Difficulty breathing
  • Delayed growth
  • Bone deformities in the face and skull area
  • Enlarged spleen or liver
  • Urine will be dark coloured
Diagnosis

Diagnosis of Thalassemia involves the following:

  1. Complete Blood Count (CBC): Will indicate anemia and small pale red blood cells.
  2. Hemoglobin Electrophoresis: This test identifies abnormal hemoglobin types.
  3. Genetic Testing: A genetic test can detects mutations in the globin genes for a confirmed diagnosis.
  4. Prenatal Testing: During pregnancy, either Chorionic villus sampling (CVS) or amniocentesis can be done to screen the fetus for the disorder.
Management

Treatment of Thalassemia:


Mild Thalassemia: Requires no treatment needed and  the individual only needs to be monitored for complications like iron overload.

Moderate to Severe Thalassemia: 
  • Regular Blood Transfusions: This is done to maintain haemoglobin levels and reduce the symptoms of anemia.
  • Iron Chelation Therapy: To prevent iron overload due to regular transfusions. Drugs used for iron chelation therapy include deferoxamine, deferiprone, or deferasirox.
  • Folic Acid Supplements:  Helps support red blood cell production.
  • Splenectomy: If spleen enlargement is severe a splenectomy is needed.
  • Bone Marrow or Stem Cell Transplant: This is only suitable for some patients and is the only cure for a case of severe thalassemia.

Available Medicine for Thalassemia

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