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Symptoms depend on the type of thalassemia and can vary from none to severe, including death. [1] 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. [1] Symptoms of anemia include feeling tired and having pale ...
Signs and symptoms of alpha-thalassemia [8] [9] [10]; Common Uncommon Anemia: People with alpha-thalassemia can experience both a decrease in the production of red blood cells (RBC) and an increase in the destruction of RBCs which can result in other symptoms such as fatigue and dizziness.
Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation and patients usually have microcytosis with borderline hypochromic anemia and they are usually asymptomatic or have mild symptoms. [8] Beta thalassemia minor can also present as beta thalassemia silent carriers; those ...
[1] [2] Regular transfusion is required to reduce the symptoms of anemia by increasing functional red blood cells and hemoglobin count. Symptoms may vary based on the severity of the condition and the most common symptom is fatigue. [3] Various diseases can lead to transfusion-dependent anemia, most notably myelodysplastic syndromes (MDS) and ...
Though only definitively diagnosable by genetic sequence testing, including a G band analysis, ATR-16 syndrome may be diagnosed from its constellation of symptoms. It must be distinguished from ATR-X syndrome, a very similar disease caused by a mutation on the X chromosome, and cases of alpha-thalassemia that co-occur with intellectual disabilities with no underlying genetic relationship.
1 Signs and symptoms. 2 Cause. Toggle Cause subsection. 2.1 Mutations. 3 Diagnosis. 4 Treatment. 5 References. ... Sickle cell-beta thalassemia is an inherited blood ...
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Recommended course of treatment depends on the nature and severity of the symptoms and may involve close monitoring of hemoglobin levels, folic acid supplements, and potentially regular blood transfusions. [8] There is a variety of phenotypes depending on the interaction of HbE and α-thalassemia.
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