Discuss the origin and meaning of the medical term thalassemia. Is it a structure, function, or condition, and what type of specialist would be familiar with it?

The name thalassemia comes from a Greek word, ‘Thalassa’, meaning sea. This is so because ancient people believed that the disease came from sea. Later on, it also came to be known as Mediterranean Anemia. In 1925, a pediatrician named Cooley worked on this disease and published his work that is why, it also came to be known as Cooley’s anemia.

It is a medical condition, in which abnormal hemoglobin is formed in the body. Actually, hemoglobin is made up of two types of globin proteins: – alpha globin and beta- globin. If any of the two globins formed are abnormal/absent due to genetic disorders, then the conditions is known as thalassemia. Abnormal alpha globin gene causes alpha thalassemia, and abnormal beta globin gene causes beta thalassemia. There are two alleles in the body for a single gene. If there is a defect in one allele, then the condition will be called as thalassemia minor and if a defect occurs in both the alleles, then the condition is called as thalassemia major. All of the four conditions mentioned will ultimately lead to death.

The abnormal hemoglobin disallows oxygen transport in the body. So, RBCs are either destroyed or are smaller in size than normal. The patient suffers from severe anemia. This may further lead to cardiovascular disease and bone deformities. Such patients require repeated blood transfusions; because of which iron toxicity occurs in the body.

It is a condition.

A paediatrician would be familiar with this condition, since the disorder is traced since birth in newborns. Every year, thousands of babies are born with this autosomal recessive disorder.

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