Is Alpha Thalassemia Life Threatening?

Alpha thalassemia is of different type and severity is proportional to the number of genes that have become abnormal. The severity ranges form alpha thalassemia minima to alpha thalassemia major, the latter being the most severe and have life threatening consequences.

Is Alpha Thalassemia Life Threatening?

Is Alpha Thalassemia Life Threatening?

Life-Threatening Complications

Alpha thalassemia major, the severe form of the disease, has negative consequences on the body. The consequences are not confined to the blood and bone marrow rather, the other organs also get affected. Following are the complications of the disease:

  1. Severe Anemia: The function of bone marrow is to produce red blood cells by incorporating hemoglobin in the cells. In the presence of abnormal hemoglobin, the rate of formation of red blood cells decreases while the destruction increases leading to severe anemia. The patient may experience fatigue, tiredness and yellow color of skin, eyes and mucus membrane.
  2. Hepatomegaly: Due to increased metabolites in the blood because of rapid red blood cells destruction the size of the liver increases.
  3. Splenomegaly: Rapid RBC destruction makes the spleen overactive and increase in size. Also, the spleen also destroys white blood cells leading to lower immune system and increasing risk of infection.
  4. Bone Deformation: Bone marrow is present in the middle of the long bones. Due to severe anemia, bone marrow is under pressure to produce RBC. Thus, bone marrow increases in size leading to deformation of bones in arms, legs and face. Bone becomes brittle and fragile.

The severity of the alpha thalassemia disease depends upon the number of genes that gets mutated. More the number of gene mutation more severe the disease and more difficult it is to manage the symptoms. The alpha thalassemia can be divided in to following types:

  1. One Alpha Gene Mutation: If only one alpha gene gets mutated, the patient does not experience any symptoms. This condition is termed as alpha thalassemia minima.
  2. Two Alpha Gene Mutation: When two alpha genes get mutated, either the patient may not experience any symptoms, or the symptoms of anemia may be very mild. This thalassemia is termed as alpha thalassemia minor.
  3. Three Alpha Genes Mutation: When three alpha genes get mutated, it is said to be the moderate form of the disease. The patient may experience moderate form of anemia and the treatment may be provided depending upon the condition of the patient. This condition is termed as alpha thalassemia intermedia.
  4. All The Four Alpha Genes Mutation: This is the severe form of the disease and if it is not managed, it may lead to life threatening consequences. The patient suffering from this condition experience severe anemia and related symptoms. The condition is called as alpha thalassemia major.

Thus, the life expectancy and the life threatening consequences depend upon the severity of the disease and the number of genes that gets mutated. Also, more severe the disease, more it is difficult to manage. The standard therapy for the severe form of disease is frequent blood transfusion which has its own complications.

Alpha Thalassemia

Hemoglobin is composed of four subunits of globin. Two units of alpha globin and two subunit of beta globin is present. All the four units are essential for the synthesis of normal hemoglobin. Thalassemia is caused when the genes regulations the expression of the synthesis of globin gets mutated. If the genes of alpha globin are mutated, the condition is called alpha thalassemia and if the genes expressing the beta globin are mutated, the condition is known as beta thalassemia. The condition is inherited in autosomal recessive pattern which means that both the allele should be mutated to manifest the symptoms of the disease. Alpha globin is expressed by four genes which are present on chromosome 16 in two pairs. Thus, the severity of the disease depends upon the number of genes that gets mutated. The genes involved in the expression of alpha globin are HBA1 and HBA2.


Alpha thalassemia major occurs due to mutation in all the genes which are expressing the synthesis of alpha globin. It is the most severe type of alpha thalassemia and may have life threatening consequences.

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Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:January 12, 2024

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