What are its causes and symptoms?

Health, according to the World Health Organization, is “a state of complete physical, mental and social well-being and not merely the absence of disease and infirmity”.[1] A variety of definitions have been used for different purposes over time. Health can be promoted by encouraging healthful activities, such as regular physical exercise and adequate sleep,[2] and by reducing or avoiding unhealthful activities or situations, such as smoking or excessive stress. Some factors affecting health are due to individual choices, such as whether to engage in a high-risk behavior, while others are due to structural causes, such as whether the society is arranged in a way that makes it easier or harder for people to get necessary healthcare services. Still other factors are beyond both individual and group choices, such as genetic disorders.

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Thalassemia is of various kinds, and needs the right treatment to manage it effectively. Here’s what you must know about this condition.

Thalassemia is an inherited blood disorder of the red blood cells in the body. It is caused by gene defects in the DNA, which destroy red cells and affect hemoglobin production levels, leading to anemia (low hemoglobin levels). Hemoglobin is a protein in the blood which carries oxygen and lends the red color to the blood.

Alpha globin and Beta globin are the two subtypes of these proteins. The types and severity of thalassemia depend on the number of gene defects pertaining to the Alpha and Beta proteins.  

India has the largest number of thalassemic children born annually (10,000-15,000). There are an estimated 5-30 percent thalassemic people in India, including mere trait carriers.   

What are some of the major causes?

  • Genetics
  • Family history
  • Ethnicity or race 

Types of thalassemia

There are two major types of thalassemia: homozygous or heterozygous. Mildness or severity of the disorder primarily depends on the number of defective genes a person inherits in his DNA. Both types can manifest in two forms: thalassemia minor and thalassemia major.

  • Alpha thalassemia: Higher prevalence among southeast Asian, Chinese, Middle-Eastern and African origin people.
  • Beta thalassemia (or Cooley’s Anemia): Higher prevalence among the population of the Mediterranean region and people of American- African origin.
thalassemia
Thalassemia can cause anemia, leaving you fatigued. Image courtesy: Shutterstock

What are some of the symptoms and risk factors?

Minor patients carry only the trait and thus are mostly asymptomatic. Those who have two defective genes have mild symptoms, while those with three have mild-to-severe symptoms. Those with four defective genes usually either die at birth or have a host of severe symptoms and need lifelong treatment to survive. 

  • Chronic fatigue
  • Weakness 
  • Skin pallor
  • Bone deformities, especially facial bones.
  • Slow or impaired growth
  • Dark urine
  • Anemia

Symptoms in severe cases of thalassemia have been identified as:

  • Frequent and painful blood transfusions
  • Poor quality of life  
  • Frequent infections
  • Enlarged spleen 
  • Iron overload
  • Heart problems

Diagnosis

    • CBC (Complete blood count) including Hb: This measures the level of hemoglobin produced by the body, the anemia and severity of anemia. 
    • Peripheral blood smear examination: This helps in identifying the type of anemia as well as some different shapes of red blood cells (sickle shape), which would help in differing the patient for further testing.
    • Hemoglobin electrophoresis or HPLC: This test helps in separating abnormal hemoglobin in the blood and thus helps in assessing the type of thalassemia.
    • DNA testing: This is done for confirmation along with parental screening.
thalassemia
DNA testing is the only way to determine the silent alpha thalassemia trait. Image courtesy: Shutterstock

Tips for management and treatment

Management for patients who experience mild or no symptoms i.e., those who are carriers, need no treatment except regular and appropriate intake of folic acid.
For homozygous patients, repeated blood transfusions are needed, along with regular iron chelation therapy. Regular growth assessment and monitoring of a thalassemic child is needed. 

In the long term, bone marrow transplant and stem cell therapy is being considered.

For children of parents with Thalassemia trait, IVF, gene therapy and genetic selection is being considered (only those sperm are chosen to fertilize the ovum which do not carry the thalassemia defective gene).

Prevention

It is recommended that all pregnant females be screened for thalassemia. Genetic counselling and testing is advised for families, who are at high risk. Every couple must undergo genetic evaluation before marriage, as prevention is better than cure.

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