thalassemia
Sign in to saveThalassemias are a group of inherited blood disorders that manifest as the production of reduced hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe, including death. Often there is mild-to-severe anemia (low red blood cells or hemoglobin), as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. Symptoms include tiredness, pallor, bone problems, an enlarged spleen, jaundice, pulmonary hypertension, and dark urine. A child's growth and development may be slower than normal.
AI overview
Thalassemia is an inherited blood disorder that reduces the body's production of hemoglobin, the protein in red blood cells that carries oxygen, leading to anemia and symptoms ranging from tiredness and paleness to severe complications like bone problems and organ enlargement. The severity varies widely depending on the type of thalassemia, and it can affect how quickly children grow and develop, though some people have no symptoms at all.
AI-generated from the Wikipedia summary — may contain errors.
Key facts
- Medical condition (new).name
- Thalassemia
- Medical condition (new).image
- Delta Beta Thalassemia.jpg
- Medical condition (new).caption
- Peripheral blood film from a person with delta-beta thalassemia
- Medical condition (new).field
- Hematology, medical genetics
- Medical condition (new).synonyms
- Thalassaemia, Mediterranean anemia
- Medical condition (new).symptoms
- Feeling tired, pale skin, enlarged spleen, yellowish skin, dark urine
- Medical condition (new).cause
- Genetic (autosomal recessive)
- Medical condition (new).diagnosis
- Blood tests, genetic tests
- Medical condition (new).treatment
- Blood transfusions, iron chelation, folic acid
- Medical condition (new).frequency
- 280 million (2015)
- Medical condition (new).deaths
- 16,800 (2015)
Article
30 sectionsContents
- Etymology and synonym
- Hemoglobin structural biology
- Symptoms
- Pathophysiology
- Evolutionary advantage
- Alpha-thalassemia
- Beta-thalassemia
- Delta-thalassemia
- Combination hemoglobinopathies
- Diagnosis
- Prenatal and newborn screening
- Diagnostic tests
- Management
- Red blood cell transfusions
- Iron chelation
- Folic acid
- Other treatments
- Luspatercept
- Hydroxyurea
- Osteoporosis
- Removal of the spleen
- Transplantation and gene therapy
- Hematopoietic stem cell transplantation
- Gene therapy
- Prevention
- Epidemiology
- History of thalassemia
- Further reading
- References
- External links
Thalassemias are a group of inherited blood disorders that manifest as the production of reduced hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe, including death. Often there is mild-to-severe anemia (low red blood cells or hemoglobin), as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. Symptoms include tiredness, pallor, bone problems, an enlarged spleen, jaundice, pulmonary hypertension, and dark urine. A child's growth and development may be slower than normal.
Thalassemias are genetic disorders. Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component. The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are faulty. Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests. Diagnosis may occur before birth through prenatal testing.