Symptoms Of Alpha Thalassemia: Causes, Diagnosis And Treatment

Thalassemia is an inherited blood disorder that is typified by less hemoglobin and fewer RBCs than normal. If you have mild thalassemia, you may not require any treatment. However, in case of severe thalassemia, regular blood transfusions become necessary. Choosing a healthy diet and exercising regularly will also you help significantly.

Alpha thalassemia is a group of inherited anemia of variable severity. Alpha thalassemia is characterized by decreased or no synthesis of 1 or more of the globin chains which makes up the hemoglobin.

The hemoglobin is a protein comprising of 4 globin chains bound to the heme molecule – alpha, beta, gamma, and delta. The dominant hemoglobin in adults is made up of 2 alpha and 2 beta chains. A strictly monitored globin chain synthesis process keeps the ratio of alpha chains to non-alpha chains at 1.00.

Thalassemia alters this process and disturbs this ratio. Reduced synthesis of alpha1 -globin or alpha2 -globin gene products results in a relative surplus of beta chains, which consequently results in less stable chains; this leads to alpha thalassemia.

What Causes Alpha Thalassemia?

Alpha thalassemia is a genetic inherited disorder. Alpha thalassemia develops when a gene or genes related to the alpha globin protein get mutated. The condition is common in people from Southeast Asia, China, Middle East, and in those of African descent.

Alpha thalassemia is further sub divided into minor and major. If you inherit the defective gene from both parents you will develop thalassemia major. Thalassemia minor develops if you inherit the defective gene from one parent only. Those having the minor form of the disease are carriers and generally don’t have any manifesting features.

Alpha Thalassemia Symptoms

Clinical manifestations and signs and symptoms of alpha thalassemia are:

Severe forms of alpha thalassemia major are known to result in stillbirth. Children born with thalassemia major are normal at birth, however, they develop severe anemia during the first year of life.

Other symptoms of the condition include:

  • Exhaustion
  • Breathlessness
  • Bone deformities in the face
  • Growth failure
  • Jaundice

People having alpha thalassemia minor may not have any presenting symptoms at all.

Diagnosis And Treatment For Alpha Thalassemia

A physical examination reveals an enlarged spleen.

Blood examination shows:

  • Red blood cells small and abnormally shaped when looked at under the microscope.
  • Anemia.
  • Hemoglobin electrophoresis demonstrates an abnormal form of hemoglobin.

A diagnostic test known as mutational analysis helps identify alpha thalassemia which cannot be seen via hemoglobin electrophoresis.

Treatment for thalassemia major comprises of regular blood transfusions and folate supplements.

  • If you are receiving blood transfusion, you shouldn’t take iron supplements; it could result in an accumulation of a high amount of iron in the body, and that could be harmful.
  • Those receiving considerable numbers of blood transfusions require a treatment called chelation therapy to get rid of surplus iron from the body.
  • A bone marrow transplant helps manage the condition in some patients, particularly children.
  • Severe thalassemia triggers early death due to heart failure, typically between 20 – 30 years. Regular blood transfusions and chelation therapy to eliminate excess iron from the body enhances the prognosis.
  • Minor forms by and large do not curtail lifespan.
  • Genetic counseling and prenatal screening helps those having a family history especially those who are planning to have children.