Clinical Signs And Symptoms Of Thalassemia Major

Thalassemia major is a type of hemolytic anemia that is cause by a mutation in the Beta chain of hemoglobin that causes lysis of the red blood cells , decreased hemoglobin and resulting in anemia. This is a genetic condition that is passed from parents to children.

Pathophysiology: Normal adult hemoglobin has two beta chains and two alpha chains. In patients with Thalassemia major there is no normal gene for beta chain synthesis and thus there is no normal production of hemoglobin A. This leads to a significant anemia and illness.

Clinical Signs And Symptoms:

1. At birth a baby with thalassemia major seems to be completely normal, healthy and active, It is because at birth the predominant hemoglobin is the fetal hemoglobin that does not need the synthesis of beta chain.

2. Later on within the first few months after birth when the body starts to replace fetal hemoglobin with adult hemoglobin symptoms begin to appear gradually. Anemia begins to get progressively more and more severe.

3. The child fails to grow normally and shows signs of severe fatigue and lethargy. The child may have difficulties with feeding due to easy fatigue because of lack of oxygen and underlying severe anemia.

4. The child may look pale and may have repeated attacks of fever and diarrhea.

5. Liver and spleen are enlarged leading to a distended abdomen.

6. Slight to moderately severe jaundice because of rapid hemolysis.

7. There may be bony deformities like frontal bossing and promint facial bones. because of extra medullary hemopoeisis to compensate for the anemia.

8. Later on severe anemia leads to intolerance to exercise, heart murmur and even signs of heart failure.

9. Patients who receive repeated blood transfusions get complications from iron overload like endocrine disorders.

10. Slowed growth and delayed puberty.