Thalassemia is a genetic blood disorder that affects the production of hemoglobin in the body. The spelling of thalassemia is derived from the Greek words "thalassa" meaning sea and "haima" meaning blood. The IPA phonetic transcription for thalassemia is /θæləˈsiːmiə/. The "th" sound at the beginning is pronounced as a voiceless dental fricative, the "a" is pronounced as a short vowel sound, the "l" sound is made with the tongue touching the alveolar ridge, and the "s" sound is pronounced as a voiceless alveolar fricative.
Thalassemia is a genetic blood disorder characterized by abnormal formation of hemoglobin, the protein responsible for carrying oxygen in the red blood cells. It is typically inherited from one or both parents who carry a mutated gene that affects the production of hemoglobin.
There are several types of thalassemia, including alpha thalassemia and beta thalassemia, which are further divided into different subtypes based on the severity of the condition. The disorder primarily affects individuals of Mediterranean, African, Middle Eastern, and Southeast Asian descent.
The main feature of thalassemia is anemia, which occurs when the body does not have enough healthy red blood cells to adequately supply oxygen to tissues and organs. Symptoms of thalassemia can vary depending on the type and severity but may include fatigue, weakness, pale skin, shortness of breath, delayed growth and development, and yellowing of the skin and eyes (jaundice).
Treatment for thalassemia focuses on managing symptoms and complications. This may involve regular blood transfusions to replenish red blood cell counts, iron chelation therapy to remove excess iron from the body, and in severe cases, bone marrow transplantation to restore normal red blood cell production. Genetic counseling is also an important component for families affected by thalassemia, as it helps individuals understand their risk of passing on the condition to future generations.
The word "thalassemia" is derived from two Greek terms: "thalassa", meaning "sea", and "emia", meaning "blood condition". The term was coined in the mid-20th century by the clinical hematologist Ronald Willem L. Peters, who observed the disorder's prevalence in populations around the Mediterranean Sea. Hence, thalassemia refers to a blood disorder that was originally associated with people from the Mediterranean region.