Childhood Thalassemia: 5 Important Facts Every Parent Should Understand

Thalassemia is a blood condition which is passed on from parents to kids. Read this article to know everything about it. 
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Childhood Thalassemia: 5 Important Facts Every Parent Should Understand


Thalassemia is a hereditary blood disorder that impacts millions of individuals globally. Although childhood thalassemia can appear differently, it poses distinct difficulties for parents and caregivers. It is important to understand this condition in order to offer optimal care and support to impacted children.

To understand more about it, OnlyMyHealth team interacted with Dr Nandini Chouwdhary Hazarika, Lead Consultant - Pediatric Oncology, Hematology and BMT, Madhukar Rainbow Children's Hospital, Malviya Nagar, Delhi

What Is Thalassemia

As per Dr Hazarika, “Thalassemia is an inherited blood disorder affecting the haemoglobin synthesis.  Haemoglobin is an oxygen carrying component of the red blood cells and it has two proteins- alpha and beta. In Thalassemia, these alpha or beta proteins are not produced enough leading to break down of red blood cells and causing anaemia. The affected child will have anaemia at an early age and have less oxygen in the blood and tissues.”

As thalassemia is an inherited disease, at least one of the parents must be a carrier and the abnormal gene is passed on from parents to their children.  

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Types of Thalassemia

There are two types of Thalassemia depending on the number of mutated genes and severity.

Thalassemia minor: If one abnormal gene is inherited from one parent then it's called Thalassemia minor, mild type. In this type, no treatment is required but the affected individual will be a carrier of that abnormal gene.

Thalassemia major: But if the child inherits two abnormal genes, one from each parent, then it's called Thalassemia major, a severe type of anaemia, where the child can present with anaemia after 6 months of age. This type needs treatment. The child will have deformities of the bones, particularly in the face, delayed growth and development, excessive tiredness and fatigue, and yellow or pale skin and yellowish discoloration of eyes.

Thalassemia does not affect everyone equally. Signs and symptoms of the disorder may also appear later in childhood or adolescence depending on the severity of the disease.

Also read: IVF And Thalassemia, Does It Help You Prevent Thalassemia?

Causes 

Dr Hazarika said, “It is an inherited disorder. It is inherited as an autosomal recessive pattern, that means both the parents have to be a carrier of the abnormal gene which is passed on to the affected child. There are more than 200 genetic mutations which are identified as a cause for this disease.” 

How to Diagnose Thalassemia?

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Any child presenting with severe anaemia at an early age, should be investigated to rule out thalassemia major. “On Physical examination, the child will look pale, there may be yellowish discoloration of the eyes, and the spleen will be enlarged,” Dr Hazarika said. 

Laboratory tests

Complete blood count (CBC): it is an important and simple blood test which will give us information about anaemia and low MCV.

Peripheral smear: The second important blood test in which the blood sample is examined by a pathologist under microscope and gives information about the type of anaemia and abnormal shapes of red blood cells.

HPLC: This test is the diagnostic and confirmatory test for thalassemia. It will inform regarding the presence and type of thalassemia.

Mutation analysis is also an important test to know the genetic abnormality.

Also read: 8 Dietary Tips By Expert For Thalassemia Major Patients

Treatment for Thalassemia 

thalassemia

1. Regular blood transfusion along with iron chelating agents: When a child receives regular blood transfusions almost every 3-4 weeks, then the iron starts getting deposited in various organs of the body, like liver, heart, pancreas etc. which can damage these organs. Therefore, it's important to take iron chelating medicines along with transfusions. This is not a curative treatment option, here we are just correcting the anaemia.

2. Bone marrow transplantation: It is a curative treatment option where the patient’s bone marrow cells are replaced by the stem cells of a suitable donor. This eliminates the need the regular transfusion. Results are much better if it is done at an early age, specially before 7 years of age

3. Gene Therapy: It’s a latest advancement in the treatment of thalassemia patients but still under research work. It is important to do Thalassemia screening during pregnancy so that we can prevent the severe form of the disease.

According to Dr Hazarika, till date the best treatment option for Thalassemia major is Bone marrow transplantation.

 

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