Thalassaemia is a genetic blood disorder that affects the production of hemoglobin. The word is spelled with two "a's" at the beginning because it comes from the Greek word "thalassa," meaning sea. The "ae" combination is pronounced as /iː/ in IPA phonetic transcription. The rest of the word is made up of the Latin suffix "-emia," which means blood condition. Thalassaemia is commonly spelled with two "l's" in British English, but the American spelling uses only one "l."
Thalassaemia, also known as thalassemia, is an inherited blood disorder characterized by abnormal production of hemoglobin, the protein responsible for carrying oxygen in red blood cells. It is caused by mutations in the genes involved in the production of globin chains, which are essential components of hemoglobin. Thalassaemia directly affects the synthesis of either the alpha or beta globin chains, leading to an imbalance of these chains and impaired red blood cell production.
There are various types of thalassaemia, including alpha thalassaemia and beta thalassaemia, each with different subtypes and severity levels. The severity of the condition depends on the number of affected genes and the specific genetic mutation involved.
Symptoms of thalassaemia can range from mild to severe, with severe cases often presenting in early childhood. Common symptoms include fatigue, weakness, pale skin, slow growth, abdominal swelling, jaundice, and skeletal deformities. Individuals with thalassaemia may require regular blood transfusions or iron chelation therapy to manage their condition.
The prevalence of thalassaemia varies among populations, with higher rates observed in countries around the Mediterranean Sea, Middle East, South Asia, and Southeast Asia.
Thalassaemia is typically diagnosed through blood tests that measure the levels and types of hemoglobin in the blood, as well as genetic testing to identify specific mutations. Treatment options for thalassaemia include blood transfusions, iron chelation therapy, and, in some cases, stem cell transplantation. Ongoing medical management and monitoring are necessary to prevent complications and maintain optimal health for individuals with thalassaemia.
The word "thalassaemia" originates from the combination of two Greek words: "thalassa" (θάλασσα), meaning "sea", and "haima" (αἷμα), meaning "blood". Thalassaemia refers to a group of inherited blood disorders that affect the production of hemoglobin, the protein in red blood cells responsible for carrying oxygen. The term "thalassaemia" was coined in the mid-20th century to describe this condition, as it was initially discovered and studied in regions near the Mediterranean Sea, where the disorder is more prevalent. The name implies a connection between the affected blood and the sea.