DISEASE AND MEDICINE MEDICAL

What is Thalassemia ?

Thalassemia
Written by Sonal Thakur

What is Thalassemia?

Thalassemia is a group of inherited disorder characterized by reducing or absent amount of hemoglobin. the oxygen-carrying a protein inside the red blood cell this condition causes a varying degree of anemia.

It is pathophysiological hereditary disease common in any part of the resulting from the defect in the synthesis of the red blood pigment hemoglobin also called Cooley anemia.

The produaction of one or more globin chain within the Hb molecules is reduced leads to

  • Hypocromia-Hypo-less, Cromia-Color that means an abnormal decrease in the Hb content of RBC.
  • Extreme Microcytosis-Small than Normal RBC.
  • Hemolysis-Destruction of Red Blood Cell.

It is caused by variant or missing genes that affected how the people body make Hemoglobin. People with thalassemia make less hemoglobin and fewer circulation of red blood cell than normal, resulting in mild and severe anemia.

It can cause complication to include iron overload bone deformities and cardiovascular illness .however this same inherited disease of red blood cell may confer a degree of protection against malaria.

 THALASSEMIA MAJOR

 

TYPES 

  • ALPHA
  • BETA

Alpha 

Alpha thalassemia patient hemoglobin does not produce enough protein this type is commonly found in southwest Asian India. To make alpha globins’ protein chain we need for gene too each chromosome 16 we get two from each process it at least gene is missing produce alpha thalassemia.     

Beta 

We need two globin gene to make globins’ chain we get one from each parent it two of this gene are facility produce beta thalassemia. There are divided into two parts.      

  1. Beta Thalassemia Minor
  2. Beta Thalassemia Major

1.Beta Thalassemia Minor 

1. It one gene is affected a person is a carrier and has mild anemia.  
 
2. The condition is call beta thalassemia tract or beta thalassemia minor.
 
3.The beta that thalassemia minor often goes in diagnosed because kinds with the condition have no real symptoms other than mild anemia and small red blood cell.
 
4.  It is often suspected based a routine blood test such as a completed blood count (CBC)and can be confirmed with a hemoglobin’s electrophoresis.                                                                                                        

2.Beta Thalassemia Major   

·    Beta thalassemia as also called as coolly anemias is severed condition in which regular blood transfusion is necessary for the child to survive. People with this disease accumulate the deposit of iron especially in the liver heart and endocrine glands. The deposit eventually can affect the normal functioning of the heart and liver in addition to delaying growth and sexual maturation.                                                                         

Causes

Genetic – Most alpha thalassemia syndrome result from genetics clinical heterogeneity. the thalassemia syndrome caused by a replacement of the heterogeneity of mutation.                           

Hemoglobin – Adult have mainly hemoglobin a made up tow alpha two beta chain together with Hb alpha 2<2% (2alpha and 2 betas).

  • There are two alpha genes located on the chromosome and two beta genes on the chromosome.
  • At birth Hbf account four 70-90% in normal individual and gamma chain synthesis’ is only reflected beta chain gradually.
  • Impairment of beta synthesis leads to the patient being asymptomatic at birth.

Symptoms

  • Jaundice
  • Fatigue
  • Pale skin
  • The cold hand of feet
  • Shortness of breath
  • Poor feeding
  • Delayed growth

Diagnostic Test

  1. History taking
  2. Physical examination
  3. Complete blood count- to measure hemoglobin levels in quantities of red blood cell their size or other elements.
  4. reticulocyte count –this blood cell test measure how fast red blood cell is being made the bone marrow and released into the blood.
  5. Iron –studies of iron will help the doctors determine the anemia.
  6. The genetic test-DNA analysis will help the diagnosis of this disease.

Treatment 

  • Blood transfusion
  • Iron-chelating therapy
  • Folic acid supplement
1.Blood transfusion – A blood transfusion given through a needle in a vein and give a healthy blood cell with normal hemoglobin if the patient has beta thalassemia major or coolly anemia need a regular blood transfusion (after every 2-4weak).

2. Iron chelating agent–  The hemoglobin in red blood cell is an iron-rich protein regular blood transfusion can lead to a build-up of iron in the blood .this condition is called iron overloaded it damage the liver heart and another part of the body.

3. Folic acid supplements – Folic acid is a B-vitamin that helps build healthy red blood cell patient may need to take folic acid supplements in addition to blood transfusion and iron chelating therapy.

About the author

Sonal Thakur

Hello! Readers, I am Sonal Thakur the Indian blogger From Chhattisgarh & Founder of this website. I have created this website to provide all kind of information at one place like govt job updates, Technical related information, Health care information, online money earning information & some educational content information.

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