Thalassemia

Defects in protein structure or synthesis of hemoglobin are called hemoglobinopathies. Thalassemia is the most common hemoglobinopathy, and it is estimated that 5% of the world population carries at least one variant allele of thalassemia. The thalassemias can be classified as alpha or beta thalass...

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Main Authors: Tekin Aksu, Sule Unal
Format: Article
Language:English
Published: Aydın Pediatric Society 2021-03-01
Series:Trends in Pediatrics
Subjects:
Online Access:https://trendspediatrics.com/article/view/16
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author Tekin Aksu
Sule Unal
author_facet Tekin Aksu
Sule Unal
author_sort Tekin Aksu
collection DOAJ
description Defects in protein structure or synthesis of hemoglobin are called hemoglobinopathies. Thalassemia is the most common hemoglobinopathy, and it is estimated that 5% of the world population carries at least one variant allele of thalassemia. The thalassemias can be classified as alpha or beta thalassemias. Beta thalassemia may present as silent carriers with normal hematological parameters, while beta thalassemia carriers have hypochromic microcytic anemia, associated with a high HbA2. However, patients with beta thalassemia intermedia and beta thalassemia major need transfusion intermittently or regularly and they are called non-transfusion dependent thalassemias or transfusion-dependent thalassemias, respectively. This review focuses on pathophysiology, clinical, laboratory features of thalassemias along with their treatment and follow-up.
format Article
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issn 2792-0429
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publishDate 2021-03-01
publisher Aydın Pediatric Society
record_format Article
series Trends in Pediatrics
spelling doaj-art-7e9bc66216f7403c91afd618e80da9ef2025-08-20T03:12:24ZengAydın Pediatric SocietyTrends in Pediatrics2792-04292021-03-012110.5222/TP.2021.10820ThalassemiaTekin Aksu0https://orcid.org/0000-0003-4968-109XSule Unal1https://orcid.org/0000-0002-3842-8788Hacettepe University, Department of Pediatric Hematology, Ankara, TurkeyHacettepe University, Department of Pediatric Hematology, Ankara, Turkey Defects in protein structure or synthesis of hemoglobin are called hemoglobinopathies. Thalassemia is the most common hemoglobinopathy, and it is estimated that 5% of the world population carries at least one variant allele of thalassemia. The thalassemias can be classified as alpha or beta thalassemias. Beta thalassemia may present as silent carriers with normal hematological parameters, while beta thalassemia carriers have hypochromic microcytic anemia, associated with a high HbA2. However, patients with beta thalassemia intermedia and beta thalassemia major need transfusion intermittently or regularly and they are called non-transfusion dependent thalassemias or transfusion-dependent thalassemias, respectively. This review focuses on pathophysiology, clinical, laboratory features of thalassemias along with their treatment and follow-up. https://trendspediatrics.com/article/view/16Beta thalassemiaAlpha thalassemiaPathophysiologyTreatment
spellingShingle Tekin Aksu
Sule Unal
Thalassemia
Trends in Pediatrics
Beta thalassemia
Alpha thalassemia
Pathophysiology
Treatment
title Thalassemia
title_full Thalassemia
title_fullStr Thalassemia
title_full_unstemmed Thalassemia
title_short Thalassemia
title_sort thalassemia
topic Beta thalassemia
Alpha thalassemia
Pathophysiology
Treatment
url https://trendspediatrics.com/article/view/16
work_keys_str_mv AT tekinaksu thalassemia
AT suleunal thalassemia