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Beta-thalassemia; Other names: Cooley's anemia, Mediterranean anemia [1] Beta-thalassemia genetics, the picture shows one example of how beta-thalassemia is inherited. The beta-globin gene is located on chromosome 11. A child inherits two beta globin genes (one from each parent). Specialty: Hematology: Symptoms: Anemia, enlarged spleen ...
Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component. [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 faulty. [ 2 ]
Alpha-thalassemia (α-thalassemia) is a form of thalassemia involving the genes HBA1 [20] and HBA2. [21] It is condition that causes a reduction of hemoglobin production. There are two types of Alpha-thalassemia, named hemoglobin Bart hydrops fetalis syndrome (also known as Hb Bart syndrome) and HbH disease. [22] Anemia: D50-D64: 663
Delta-beta thalassemia is a rare form of thalassemia in which there is a reduced production of both the delta and beta globins. It is generally asymptomatic. [36] There are two clinically significant combinations involving the sickle cell gene: Hemoglobin S/ beta thalassemia: (see above). [35] Hemoglobin S/ hemoglobin C (Hemoglobin SC disease ...
Beta thalassemia major is a severe medical condition. A severe anemia is seen starting at 6 months of age. Without medical treatment death often occurs before age 12. [13] Beta thalassemia major can be treated by lifelong blood transfusions or bone marrow transplantation. [14] [15] According to a recent study, the stop gain mutation Gln40stop ...
Clinical signs include severe, rapid drop in hemoglobin leading to hypovolemic shock and death. Pediatric patients with sickle cell disease and beta thalassemia experience multiple splenic infarcts, resulting in splenic fibrosis and scarring. Over time, this leads to a small, auto infarcted spleen typically by the time patients reach adulthood.
Various diseases can lead to transfusion-dependent anemia, most notably myelodysplastic syndromes (MDS) and thalassemia. [4] [5] Due to the number of diseases that can cause transfusion-dependent anemia, diagnosing it is more complicated. Transfusion dependence occurs when an average of more than 2 units of blood transfused every 28 days is ...
Normal levels range from 2.1-3.2%, but in the beta-thalassemia disorder, the levels increase to 3.5-6.0%. Additionally, individuals with beta-thalassemia exhibit a high red cell count and low hemoglobin levels. [3] Individuals that express lower levels of hemoglobin A2, have the a 0-thalassemia trait or homozygous gene for a +-thalassemia. [2]
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