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Testing HbA2 levels can be challenging because different disorders can cause it to have higher or lower values. Testing for the beta-thalassemia trait is usually identified when the value of HbA2 is higher than 3.5%. [3] HbA2 is also important for diagnosing sickle cell disease, which is one of the most prevalent genetic conditions.
Sickle cell-beta thalassemia is an inherited blood disorder. The disease may range in severity from being relatively benign and like sickle cell trait to being similar to sickle cell disease . [ 1 ] [ 2 ]
Sickle cell disease (SCD), also simply called sickle cell, is a group of hemoglobin-related blood disorders that are typically inherited. [2] The most common type is known as sickle cell anemia. [2] Sickle cell anemia results in an abnormality in the oxygen-carrying protein haemoglobin found in red blood cells. [2]
Hemoglobin S/ beta thalassemia: common in African and Mediterranean populations, it is clinically similar to sickle-cell anemia. [61] 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.
Hemoglobin S/ beta thalassemia: common in African and Mediterranean populations, it is clinically similar to sickle-cell anemia. [35] 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 ...
Mutations can caused impaired production of hemoglobin (thalassemia) or produce structurally altered hemoglobins. Some hemoglobin variants, such as HbS which causes sickle-cell anemia, are responsible for severe diseases and are considered hemoglobinopathies.
Hb S beta thalassemia is the least common and is experienced in patients who have inherited beta thalassemia hemoglobin from one parent and HbS from the other. [17] In addition, there is sickle cell trait (HbAS) which is defined by having HbA and HbS. This makes the individual heterozygous for sickle cell.
These disorders include sickle cell-beta thalassemia. [7] In the case of sickle cell anemia, an individual with one allele for hemoglobin S and one allele for hemoglobin C would still develop the disease, despite being heterozygous for both genes. [8]
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