Question

Write a short note on thalassaemia?

Answer 1

Hint: It is a blood disease which is inheritable. In this, the body produces an abnormal type of haemoglobin. In this disorder, the excessive destruction of RBC takes place which leads to anaemia. The oxygen carrying capacity of the blood decreases maximally.

Complete answer:
Thalassemia is an autosomal recessive genetic disorder in which the synthesis of haemoglobin is decreased which results in anaemia and microcytosis. In this disease, the body makes an abnormal type of haemoglobin. Thalassemia can occur even if one of the parents is the carrier of the disease.

Cause: It is caused due to the modification or deletion of the important gene fragments.

Symptoms: Some symptoms of this disease are:
- Bone deformities
- Deformity of the face
- Dark urine
- Delay in growth and development
- Tiredness and fatigue
- Poor appetite
- Jaundice
- Enlarged organs
- Frequent infections
- Paleness and fussiness

Treatment: The course of treatment depends on the severity and the type of disease. Treatment includes blood transfusion, surgery for removing enlarged spleen or gallbladder, bone marrow transplant, medications. Iron supplements are also prescribed to treat at some sort.

Note: There are two types of thalassemia alpha and beta which are serious in which the gene undergoes mutation. Thalassemia minor is a less severe variety of disease. The treatment of this disease depends on the type and severity of the disease. The severe type of thalassemia can occur when both the parents are the carrier of the disorder.