Genetics and Epigenetics Aspects of Thalassemia

DOI

10.2991/978-94-6463-062-6_28How to use a DOI?

Keywords

Thalassemia; Genetics; Epigenetics

Abstract

Hemoglobin contains of heme, which binds iron and protoporphyrin, and globin, which consist of combination of α, β, δ, and γ chain. α-globin globin gene is located in 16p13.3 cytogenetically, and β-globin gene is in 11p15.4. Thalassemia is a blood disorder characterized in the lack or absence of one of globin chain. Thalassemia is classified as alpha thalassemia and beta thalassemia depending on which globin chain is reduced. Alpha thalassemia occurs when alpha globin chain in chromosome 16 is reduced or absence due to removal or deletion in the molecular level. Alpha thalassemia itself has several types including alpha thalassemia silence carrier, alpha thalassemia minor, haemoglobin H disease, and Hydrops fetalis. Alpha thalassemia silence carrier and alpha thalassemia minor is clinically asymptomatic. Hemoglobin H disease shows moderate to severe anemia symptom, while Hydrops fetalis is fatal. The reduced or absence of alpha globin chain causing the excess of beta globin chain. Beta thalassemia occur when beta globin chain synthesis is compromised mainly because of point mutation in chromosome 11. Beta thalassemia is divided into beta thalassemia minor, intermedia, and major. Beta thalassemia minor is clinically asymptomatic, while intermedia type shows symptoms between the minor and the major. Beta thalassemia major is the most severe among beta thalassemia, and regular blood transfusion may be needed of the anemia symptoms are increased. Besides genetic factors, epigenetic factors also play roles in causing thalassemia. Treatment of thalassemia is depended on its symptoms, such as blood transfusion and surgical treatment. Genetic therapy for thalassemia is still in development of therapy options.

Copyright

© 2023 The Author(s)

Open Access

Open Access This chapter is licensed under the terms of the Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/), which permits any noncommercial use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license and indicate if changes were made.

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TY  - CONF
AU  - Inayu Mahardhika Putri
AU  - Ferry P. Gultom
AU  - Elza Ibrahim Auerkari
PY  - 2022
DA  - 2022/12/22
TI  - Genetics and Epigenetics Aspects of Thalassemia
BT  - Proceedings of the 4th International Conference on Life Sciences and Biotechnology (ICOLIB 2021)
PB  - Atlantis Press
SP  - 288
EP  - 296
SN  - 2468-5747
UR  - https://doi.org/10.2991/978-94-6463-062-6_28
DO  - 10.2991/978-94-6463-062-6_28
ID  - Putri2022
ER  -