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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 ...
Anemia experienced by some thalassemia intermedia patients are also regarded transfusion dependent. Therefore, most transfusion-dependent thalassemia patients can be diagnosed within the first few years of life, which severe anemia, differed growth, jaundice and hepatosplenomegaly can be observed. Parameters for confirmation includes baseline ...
Hemoglobin E/β-thalassemia is a severe disease, and it still has no universal cure. However, the mutation is amenable to genome editing at high efficiency in preclinical studies. [ 6 ] It affects more than a million people in the world. [ 7 ]
Thalassemia prevalence in India is 3-4%, with 10,000 to 12,000 reported thalassemia births taking place every year. It is also estimated that there are 30 million thalassemia carriers in the country. With NAT tested blood, these patients live longer and maintain their quality of life. [4]
Those with beta thalassemia intermedia (those who are compound heterozygotes for the beta thalassemia mutation) usually present later in life with mild to moderate symptoms of anemia. [8] Beta thalassemia trait (also known as beta thalassemia minor) involves heterozygous inheritance of a beta-thalassemia mutation and patients usually have ...
Thalassemia patients may also be faced with potential oxidative damage to brain cells as the brain has high oxygen demands, but contains relatively low levels of antioxidant agents for protection against oxidation. The presence of excess iron in the brain may lead to higher concentrations of free radicals.
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 ]
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.