Thalassemia is an inherited blood condition where the body has less red blood cells and hemoglobin. Hemoglobin helps red blood cells to distribute oxygen to all body parts. To manufacture hemoglobin, alpha and beta proteins are required. As such, alpha thalassemia occurs due to the lack of alpha hemoglobin while beta thalassemia results from the lack of beta-hemoglobin.
Needs and Lynch (2018) indicate that the diagnostic study for beta thalassemia is hemoglobin electrophoresis. The rationale behind hemoglobin electrophoresis is to show the abnormal proportions of HbA, HbA2, and occasionally HbF. The common configuration of beta-thalassemia is a low HbA ratio, a slightly higher HbA2, and an inconsistently increased HbF. There exists beta-thalassemia minor, which shows increased HbA2 with unevenly normal-to-low elevations of HbF. On the other hand, beta-thalassemia major displays elevated HbF with standard to slightly elevated HbA2 (Needs & Lynch, 2018).
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To make a diagnosis of alpha thalassemia, p reconception testing is carried out for potential parents. The rationale behind p reconception testing is when the two parents have proof of possible alpha thalassemia grounded on biochemical testing (Blue Cross Blue Shield of North Carolina, 2019). Also, genetic testing to approve a diagnosis of alpha thalassemia is deliberated medically essential. The rationale behind this is when one of the parents is a recognized carrier or when another test to make a diagnosis origin of microcytic anemia has been unsatisfying (Blue Cross Blue Shield of North Carolina, 2019).
The current management recommendation for managing beta-thalassemia is genetic counseling, together with prenatal diagnosis when carriers are perceived (Needs & Lynch, 2018). Thalassemia major is treated through red blood cell transfusion to subdue erythroid expansion. The transfusion also works to lessen signs of anemia and hinder gastrointestinal iron absorption. Regarding alpha thalassemia, blood transfusions are employed to offer patients healthy red blood cells containing normal hemoglobin. Also, there can be the use of i ron chelation therapy, which eliminates surplus iron from the body emanating from recurrent blood transfusions. The two drugs employed for chelation therapy are d eferoxamine and d eferasirox . Additionally, b lood and bone marrow stem cell transplant is used in the substitution of the defective stem cells using healthy ones from a donor.
As such, the diagnostic study for beta thalassemia is hemoglobin electrophoresis, while alpha thalassemia can be diagnosed using p reconception and genetic testing. To manage beta-thalassemia, genetic counseling, together with prenatal diagnosis is done when carriers are perceived . Also, t halassemia major is treated through red blood cell transfusion. Concerning alpha thalassemia, there is the use of blood transfusions, i ron chelation therapy, and b lood and bone marrow stem cell transplant .
References
Blue Cross Blue Shield of North Carolina. (2019). Genetic Testing for Alpha Thalassemia AHS – M2131. Retrieved from https://www.bluecrossnc.com/sites/default/files/document/attachment/services/public/pdfs/medicalpolicy/genetic_testing_for_alpha_thalassemia.pdf
Needs, T., & Lynch, D. (2018). Beta Thalassemia . USA: StatPearls Publishing LLC.
