Thalassemia is a group of genetically caused blood disorders. It happens due to lack of body’s capacity to produce alpha or beta components of our haemoglobin. This interruption occurs due to faulty genes. Here, you know useful tips for living with thalassemia and associated points

Table of content

  • Types of thalassemia
  • Treatments for thalassemia

Types of thalassemia

The followings are the types of thalassemia:

  • Alpha Thalassemia – People whose haemoglobin does not produce enough alpha protein have alpha thalassemia. There are four types of alpha thalassemia that range from mild to severe in their effect on the body.
  • Silent Carrier State – This condition generally causes no health problems. It is, as the lack of alpha protein is so small and the haemoglobin functions normally. Experts call it a silent carrier and diagnose it by deduction.
  • Haemoglobin Constant Spring – This is an unusual form of Silent Carrier state. It occurs due to a mutation of the alpha globin, which is Constant Spring after the region of Jamaica where scientists discovered it. As in silent carrier state, an individual with this condition usually experiences no symptoms.
  • Alpha Thalassemia Trait – Here, the lack of alpha protein is somewhat greater. Patients have smaller red blood cells and a mild anaemia. However, many patients do not experience any symptoms. Physicians often mistake mild alpha thalassemia for iron deficiency anaemia.
  • Haemoglobin H Disease – The lack of alpha protein is great enough to cause anaemia and serious health problems such as an enlarged spleen, bone deformities, and fatigue. Experts has named it abnormal haemoglobin H that destroys red blood cells.
  • Haemoglobin H Constant Spring – More serious than haemoglobin H disease, patients tend to have a more severe anaemia. They suffer more frequently from enlargement of the spleen and viral infections.
  • Homozygous Constant Spring – This condition is a variation of haemoglobin H-Constant Spring that occurs when two Constant Spring carriers pass their genes on to their child (as opposed to haemoglobin H Constant Spring, in which one parent is a Constant Spring Carrier and the other a carrier of alpha thalassemia traits).
  • Hydrops Fetalis or Alpha Thalassemia Major – Because of no alpha genes in the individuals DNA the gamma globins produced by the foetus form an abnormal haemoglobin. Most individuals with this condition die before or shortly after birth.
  • Beta Thalassemia – This is available in people whose haemoglobin does not produce enough Beta protein. Following are its three subtypes:
  • Thalassemia Minor or Thalassemia Trait – There is a slight lack of beta protein. So, a person simply carries the genetic trait for thalassemia. And he will usually experience no health problems in comparison with a person having mild anaemia.
  • Thalassemia Intermedia – This is a moderately severe anaemia and significant health problems, including bone deformities and enlargement of the spleen. However, thalassemia intermedia and thalassemia major are different. It is, as the deciding factor is the amount of blood transfusions that a patient requires. The more dependent is on blood transfusions, the more likely he or she is to be classified as thalassemia major.
  • Thalassemia Major or Cooley’s Anaemia – This is the most severe form of beta thalassemia. It has a complete lack of beta protein in the haemoglobin. It causes a life-threatening anaemia and requires frequent blood transfusions and extensive ongoing medical care. These extensive, lifelong blood transfusions lead to iron-overload which need treatment. The right treatment such as chelation therapy can prevent a person from early death caused by organ failure.

Treatments for Thalassemia

Thalassemia is treatable. As per a patient condition, doctors recommend tests, screenings, and medicines. The followings can be in your doctor’s recommendations as thalassemia treatments:

  • Blood Transfusions –Red blood cell transfusions are necessary to provide the patient with a temporary supply of healthy red blood cells. And normal haemoglobin capable of carrying the oxygen as per the patient’s body needs.
  • Iron Overload – Iron in the transfused blood cells builds up in a condition – “iron overload”. And it becomes toxic to tissues and organs, particularly the liver and heart. Iron overload typically results in the patient’s early death from organ failure.
  • Chelation Therapy – To help remove excess iron, patients undergo the difficult and painful infusion of a drug. Deferrals, a needle is attached to a small battery-operated infusion pump and worn under the skin of the stomach or legs five to seven times a week for up to twelve hours. Deferrals binds iron in a process called ‘chelation.’ Chelated iron is later eliminated. reducing the amount of stored iron.
  • The Compliance Problem – Many patients find ‘chelation’ so difficult that they do not keep up with it or abandon treatment altogether. This leads to accelerated health problems and early death.

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