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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 ...
Alpha-thalassemia (α-thalassemia, α-thalassaemia) is a form of thalassemia involving the genes HBA1 [5] and HBA2. [6] Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin , the molecule that carries oxygen in the blood. [ 7 ]
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 ...
In adults alpha thalassemia manifests as HbH disease. In this, excess beta-globin forms β 4 -tetramers, which accumulate and precipitate in red blood cells, damaging their membranes. Damaged RBCs are removed by the spleen resulting in moderate to severe anemia.
[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 ...
Hemoglobin H disease, also called alpha-thalassemia intermedia, is a disease affecting hemoglobin, the oxygen carrying molecule within red blood cells. It is a form of Alpha-thalassemia which most commonly occurs due to deletion of 3 out of 4 of the α-globin genes. [1]
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Delta-beta-thalassemia is caused by deletions of the entire delta and beta genes sequences and only gamma-globin and HbF are formed. Rarely, non-deletional forms have been reported. [7] [8] When two delta 0 mutations are inherited, no hemoglobin A2 (alpha2, delta2) are formed. This is innocuous because only 2-3% of normal adult hemoglobin is ...
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