15 Nov 2022

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Pathophysiology of Thallessemia

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Thalassemias is either described as α or β reliant on the underlying molecular defects and abnormal globin chain. Brancaleoni, Di Pierro, Motta and Cappellini (2016) argue that h ematological tests only recognize the identification of the carriers. Diagnosis of thalassemias is undertaken by specialized hemoglobin tests, blood tests, and a comprehensive blood count (CBC). Blood tests reveal any abnormalities in the red blood cells in addition to their color, shape, or size. The same analysis is applied to analyze any mutated genes in the DNA ( Viprakasit & Ekwattanakit, 2018) . Complete blood count approximates the blood cells or different types of blood cells by measuring the same in a given sample of blood. Patients with thalassemias have a low number of blood cells. For example, patients with a beta or alpha thalassemia character could have red blood cells that are small in size ( Brancaleoni et al., 2016) . A hemoglobin test is used to analyze the kinds of hemoglobin in a given sample. Severe and moderate thalassemias are mostly diagnosed in infancy since the symptoms and signs such as severe anemia do take place within an infant’s first two years.

There are two types of tests carried out in fetuses to diagnose thalassemia that include:

Amniocentesis; is undertaken in the fetus 16th week and entails examining fluid samples that surround the developing fetus.

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Chorionic villus sampling; is undertaken in the 11th week and entails removing and evaluating a piece of the placenta ( Viprakasit & Ekwattanakit, 2018) .

Morphology and red cells indices, then measurement and separation of the Hb fractions help in the identification of carriers. Often the status of iron is ascertained by measuring zinc or ferritin protoporphyrin in addition to iron-binding saturation/capacity index ( Brancaleoni t al., 2016) . Mean corpuscular hemoglobin and corpuscular volume are mainly decreased in beta carriers, while a reduction in alpha carriers is noted. HbA2 analysis is the best decisive check for the detection of the beta carrier. However, Viprakasit and Ekwattanakit (2018) observe that this can be distorted by ϭ-thalassemia flaws. Molecular analysis is critical for the prediction of transfusion-dependent and non-dependent situations.

References

Brancaleoni, V., Di Pierro, E., Motta, I., & Cappellini, M. D. (2016). Laboratory diagnosis of thalassemia.  International Journal of laboratory hematology 38 , 32-40. https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijlh.12527 

Viprakasit, V., & Ekwattanakit, S. (2018). Clinical classification, screening and diagnosis for thalassemia.  Hematology/Oncology Clinics 32 (2), 193-211. https://www.researchgate.net/profile/Supachai_Ekwattanakit/publication/323412471_Clinical_Classification_Screening_and_Diagnosis_for_Thalassemia/links/5a97d75f45851535bcdf49c3/Clinical-Classification-Screening-and-Diagnosis-for-Thalassemia.pdf 

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StudyBounty. (2023, September 16). Pathophysiology of Thallessemia.
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