Thalassemia, Causes, Signs and Symptoms, Diagnosis and Treatment.

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Chapters

0:00 Introduction
0:51 Causes of Thalassemia
1:37 Signs and Symptoms of Thalassemia
2:43 Treatment of Thalassemia

Thalassemias are inherited blood disorders characterized by decreased hemoglobin production.[7] Symptoms depend on the type and can vary from none to severe.[1] Often there is mild to severe anemia (low red blood cells or hemoglobin).[1] Anemia can result in feeling tired and pale skin.[1] There may also be bone problems, an enlarged spleen, yellowish skin, and dark urine.[1] Slow growth may occur in children.[1]

Thalassemias are genetic disorders inherited from a person's parents.[2] There are two main types, alpha thalassemia and beta thalassemia.[7] 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 missing.[2] Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests.[3] Diagnosis may occur before birth through prenatal testing.[8]

Treatment depends on the type and severity.[4] Treatment for those with more severe disease often includes regular blood transfusions, iron chelation, and folic acid.[4] Iron chelation may be done with deferoxamine, deferasirox or deferiprone.[4][9] Occasionally, a bone marrow transplant may be an option.[4] Complications may include iron overload from the transfusions with resulting heart or liver disease, infections, and osteoporosis.[1] If the spleen becomes overly enlarged, surgical removal may be required.[1] Thalassemia patients who do not respond well to blood transfusions can take hydroxyurea or thalidomide, and sometimes a combination of both.[10] Hydroxyurea is the only FDA approved drug for thalassemia. Patients who took 10 mg/kg of hydroxyurea everyday for a year had significantly higher hemoglobin levels and it was a well-tolerated treatment for patients who did not respond well to blood transfusions.[11] Another hemoglobin-inducer includes thalidomide, although it has not been tested in a clinical setting. The combination of thalidomide and hydroxyurea resulted in hemoglobin levels increasing significantly in transfusion-dependent and non-transfusion dependent patients [12]