Thalassemia - types, symptoms, diagnosis, treatment

Thalassemia  is an inherited blood disorder, in which haemoglobin levels are less than the normal. Haemoglobin helps in carrying oxygen to various parts of the human body. Deprived levels of haemoglobin in RBC leads to anaemia leaving fatigue as a common symptom. As the Thalassemia disease involves mutations it is considered as a genetic disorder.


Types of Thalassemia

  • Thalassemia disease is caused by the mutations in DNA of cells that  are related to production of haemoglobin for RBC, haemoglobin carries oxygen molecules. These mutation cells are inherited from parents to children. 


  • Haemoglobin are made up of alpha and beta chains that can be affected by mutations.. Reduced production of either alpha or beta chains in haemoglobin of Red Blood Cells leads to two types of Thalassemia i.e., alpha-Thalassemia and beta-Thalassemia.


  • In alpha Thalassemia, the severity of thalassemia you have depends on the number of gene mutations you inherit from parents to children. The severity of thalassemia depends on no. of mutations.

  • In beta Thalassemia, severity depends on which part of the haemoglobin molecule is affected.

Alpha-Thalassemia 

Haemoglobin is made of fours genes in which two genes are inherited from parents to children.


  • One mutated gene does not show signs or symptoms of thalassemia, but acts like a carrier of the disease and can pass to other generations.

  • Two mutated genes, signs and symptoms will be mild, this condition might be called alpha-thalassemia trait.

  • Three mutated genes, signs and symptoms will be moderate to severe.

  • Four mutated genes are very rare and usually lead to stillbirth of a child. Babies born with this condition often die in a shorter time after birth or require lifelong transfusion therapy.

Beta-Thalassemia 


Two genes are involved in the beta haemoglobin chain. One gene from each parent is inherited to the child. 


  • One mutated gene will have mild signs and symptoms, this condition is called thalassemia minor or beta-thalassemia.

  • Two mutated genes, signs and symptoms will be moderate to severe, this condition is called thalassemia major, or Cooley anemia.

  • Babies born with two defective beta hemoglobin genes are healthy at birth, but develop signs and symptoms in the first two years of life. A milder form, called thalassemia intermedia.

Symptoms 

Symptoms usually depend on type and severity of the disease. Thalassemia signs and symptoms can include:

  • Fatigue

  • Weakness

  • Pale or yellowish skin

  • Facial bone deformities

  • Slow growth

  • Abdominal swelling

  • Dark urine


Complications

From moderate to severe thalassemia complications include:


  • Iron overload

  • Infection


For severe thalassemia, the following complications can occur:


  • Bone deformities

  • Enlarged spleen

  • Slowed growth rates

  • Heart problems


Risk factors that increase the disease include family history of patients and certain ancestry.


Diagnosis 

Children with Thalassemia in moderate to severe conditions show symptoms 1-2 years after birth. If a doctor suspects the symptoms the disease is confirmed by performing laboratory tests using blood samples from the children. 


  • CBC - COMPLETE BLOOD COUNT tests are used to reveal No. of RBC, abnormalities in size,  shape or color and also used for DNA analysis to look for mutated genes. 


  • Prenatal testing can be done to determine the severity of the Thalassemia, to identify the disease tests like Chorionic villus sampling and Amniocentesis are performed.Treatment:

Mild conditions do not require any treatment for Thalassemia disease.

But moderate to severe conditions require treatments that might include:

  • Frequent blood transfusions

  • Chelation therapy

  • Stem cell transplant 


Thalassemia can be managed by following treatment plans and by adopting healthy-living habits by changing lifestyle and using home-remedies. 

  • Avoid excess iron.

  • Taking a healthy diet

  • Avoid infections


Questions to ask your doctor.???


  • What are the most common symptoms of the disease in children? 

  • What are the possible causes of the disease ?

  • What treatment is needed? 

  • What kind of tests to be performed? 

  • What treatment do they recommend? 

  • Ask for side-effects of the treatment for the children? 

  • What dietary restrictions to be followed by the patient? 

  • How should disease be managed by other health conditions? 

Also know 

  • Whether the symptoms occur all time or rarely? 

  • What is the severity of disease? 


#healthiswealth

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