Know What is Thalassemia and how you can be aware!

Dear readers,

In this Section we would like to make you aware of

Thalassemia, type of Thalassemia, Signs and Symptoms , Diagnosis and how TSCS can help you...

What is Thalassemia?
Most of our physical characteristics are inherited through the genes we take from our parents; for example, the shape of our nose, the colour of our skin and eyes. We also inherit our haemoglobin (Hb) type from our parents, through the genes.

Haemoglobin (Hb) is the substance in the blood which gives it its red colour. It carries the oxygen we breathe to all our body parts; it is vital for maintaining life. Without red blood cells, the body cannot function.

Thalassemia is an inherited blood disorder in which the body is unable to make adequate hemoglobin. Hemoglobin is present in the red cells and is made from proteins. These proteins consist of alpha(α) and beta(β) chains. Normally 2 alpha and 2 beta chains are essential to form hemoglobin. Imbalances in these chains results in reduced red cell survival. The amount of beta and alpha chains a person makes is controlled by the haemoglobin gene they inherit from their parents.

Normally red cells survive for 120 days but in Thalassemia red cell survival is reduced. Survival of Thalassemia patients depends upon repeated blood transfusion and costly medicines.

In our country beta Thalassemia is very common and the term Thalassemia denotes beta Thalassemia.

HOW DO YOU GET BETA THALASSAEMIA?
A person can only get beta thalassaemia minor or beta thalassaemia major from their parents. These conditions CANNOT be transmitted like an infection; they can only be inherited through the genes.



Signs and Symptoms

Infants are well at birth but develop anemia between 3-18 months of age. This anemia is persistent, progressive and doesn’t respond to any form of therapy. They fail to thrive. The child becomes weak and lethargic with poor appetite; height, weight and the development is subnormal, milestones are delayed. Excessive ineffective erythropoesis also occurs in the liver and spleen resulting in the enlargement of these organs. In some children a mass (spleen) is felt on the left side of the tummy.

In the absence of adequate transfusions they develop typical features of Thalassemia. Marked skeletal deformities with frontal bossing, cheek bone & jaw protrudes, distortion of ribs and vertebrae and pathological fracture of long bones. Chronic hypoxia due to anemia leads to increase in heart rate, enlargement of the heart, stunted growth, heart failure and death.



If above symptoms and signs are noticed/observed in an infant or child, consult your pediatrician. A simple blood test like CBP, P.S will help in suspecting the problem.
Or
Contact Thalassemia & Sickle cell society of Hyderabad for further assistance.

Laboratory Diagnosis
Blood sample of patient subjected to special tests like HPLC/Hb Electrophoresis for estimation of HbA, HbF, HbA2, HbD, HbS and alpha Thalassemia.

Diagnosis of Thalassemia Minor/Trait/Carrier (BTT)
Complete blood count on cell counter may give some indications. MCV & MCH decreased, MCH<25%>3.5%.

Diagnosis of Beta Thalassemia Major
Patients have moderate to severe anaemia and haemoglobin concentration at presentation varies between 2-6gm/dl. MCH, MCV, MCHC are reduced. Peripheral blood shows broken red cells. HbF levels which are increased, may vary between 20-90%. HbA2 may be absent, reduced, normal or slightly elevated.


How can we help you?

Thalassemia and sickle cell society of Hyderabad (TSCS) can guide you to approach our patron Doctors and If diagnosed with Thalassemia, Parents and extended family of Thalassemic child get genetic councelling and help is provided in management and prevention of these genetic disorders.