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Alpha thalassemia is has greatest prevalence in populations originating from Southeast Asia, Mediterranean countries, Africa, the Middle East, India, and Central Asia. [7] Having a mild form of alpha thalassemia has been demonstrated to protect against malaria and thus can be an advantage in malaria endemic areas. [12]
β thalassemia major (Mediterranean anemia or Cooley anemia) is caused by a β o /β o genotype. No functional β chains are produced, and thus no hemoglobin A can be assembled. This is the most severe form of β-thalassemia. β thalassemia intermedia is caused by a β + /β o or β + /β + genotype. In this form, some hemoglobin A is produced.
Beta-thalassemia (β-thalassemia) is an inherited blood disorder, and a form of thalassemia resulting in variable outcomes ranging from clinically asymptomatic to severe anemia individuals. It is caused by reduced or absent synthesis of the beta chains of hemoglobin , the molecule that carries oxygen in the blood. [ 5 ]
The prevalence of Hemoglobin H disease mirrors that of the hemoglobinopathies. As a whole, they are most prevalent in individuals of Asian, African, and Mediterranean decent. [ 5 ] There is a protective effect against malaria for individuals carrying thalassemia genes, which explains the high frequency of thalassemia within the worldwide ...
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.
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 level <7g/dL, enlargement of liver and spleen (>5 cm) and height in the first 10th percentile.
It is so named because of its higher prevalence in the Punjab region of India and Pakistan, along with northern China, and North America. It is also the most frequent hemoglobin variant in Xinjiang Uyghur Autonomous Region of China , with a 1997 study indicating that Hemoglobin D-Punjab accounts for 55.6% of the total hemoglobin variants.
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