Thalasaemia or Thalassemia desease..

A hemoglobin disorder

Thalasaemia is hereditary heamolytic disease caused by abnormal hemoglobin or  destruction of red blood cells from parents to children.The destruction of red blood cells  cause severe  anemia.Anemia is condition in which your body has unhealthy and lower red blood cells.Hemoglobin is a protein of red blood cells  that carries oxygen all over the  body cells.Normal hemoglobin is composed by four protein chain ,two alpha and two beta.There are two major types of major thelasaemia and each has their sub types which are

1. Alpha Thalasaemia
2. Beta Thalasaemia

  Alpha thalaseamia.. Occurs when there is a defect of alpha gene or impaired production of Alpha chain and also associated with deletion of chromosomes .It is usually exist in Asians,Mediterraneans,Middle eastern and African countries.

  Symptoms of Alpha thalaseamia

• yellow skin

• poor appetite

• enlarge spleen ,liver and heart

• slow growth

• bone problems specially  face bone

sub-types of  Alpha  thalasamia: Alphae thalasamia  consist on two sub-types that are..

 

• Hemoglobin H disease(HbH)
• Hb Bart's Hydrops Fataliss

 

   Hemoglobin H is occur when three gene of Alpha globin is missing or mutation of genes.The problem leads to this form is  overgrowth of bones specially upeer jaw,forehead,and cheek,jaundice enlarge spleen etc.

    Hb Bart's is occur when four Alpha genes are absent or mutate,This condition of thelasaemia is very sever that mostly occur before birth.

Beta Thalasaemia..  occurs  due to defect in synthesis of beta globin chains.This condition reduce red blood cells from the body cells that lead to anemia.This disease often in Mediterraneans,Greek,north Africans,south Asians and west Asians.

 Symptoms of Beta thalaseamia

• Yellowish skin'

• Jaundice

• Fussiness

• Enlarge organs

• Loss of appetite

There are three subtypes of Beta Thalasaemia included...

• Thalaseamia trait or minor

• Thalasaemia intermedia

• Thalaseamia Major Or Cooley  Anemia 

Thalasaemia Trait  This condition is less serious and shows no symptoms .In this type of thalasemia have problem of iron deficiency or mild anemia.

Thalasaemia Intermedia This condition occur when two gene of beta globin is mutate.This type odf thalasaemia considered minor thalasaemia because of its mild asymptomatic condition.In individual patients diagnose may change the condition mild to sever if patients feel have sever symptoms then they require blood transfusion.

Thalasaemia major(Cooley Anemia)This disease is occurs when beta globin are absent.This is the sever form of beta thalasaemia.in this condition patients feel pain and inconvenient condition because of iron over load.

There are some symptoms of beta thalaseamia major

•  Fatigue
• paleness,
• tiredness.
• jaundice
• failure to thrive
• frequent infection
• enlarge organs.

How to diagnose thalasaemia?

Thalaseamia minor doesn't  shows any symptoms you must need to consult your doctor .Doctor will ask for some blood test to diagnose severity of thalaseamia or type of thalaseamia.

If one of  your parent have thalaseamia then children may be a  thalasaemia carrier or normal .If both parents are carry thalasaemia then child have great chance to born with thalaseamia trait or maybe a have a severe thalasaemia disease.

  

If a woman carry thalasaemia that she may most likely to develop anemia during pregnancy .For this condition its important to discuss with your consultant and take medicine or any treatment that you medical provider prescript.

Doctors diagnose thalasaemia using blood test specially includes..

• FBC analyser its a complete blood test for checking person general health and screening of anemia, number of red blood cells and platelets,infection etc
• blood smear:It is a blood test to check the abnormalities of blood cells or red blood cells.
• Iron studies test:It is also a blood test to check the the estimate iron carried in blood and store in blood tissues.
• DNA analyse:It is not a routine test but it is help to diagnose thalaseamia carrier status.
• hemoglobin electrophoresis:

Treatment of thalaseamia:

A patient with thalasaemia trait or minor usually don't need specific treatment.If have minor symptoms  should consult your medical adviser and take good diet and tea .

Treatment need in thalasaemia major include..

•  transfusion therapy
• Iron chelation therapy
• Iron supplement
• born marrow transplant

  If you take blood transfusion therapy don't take iron supplement it may cause iron overload a fatal condition for patient.

For more information consult your Doctor.

      Thank you ....