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Thalassemia Reports
Volume 1
Issue 1
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Thalassemia Reports is published by MDPI from Volume 12 Issue 1 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.

Thalass. Rep., Volume 1, Issue 1 (December 2011) – 2 articles

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Article
Community Genetics and Health Approaches for Bringing Awareness in Tribals for the Prevention of Beta-Thalassemia in India
by Ranbir S. Balgir
Thalass. Rep. 2011, 1(1), e2; https://doi.org/10.4081/thal.2011.e2 - 04 Aug 2011
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Abstract
Beta (β) thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of β-globin chains. In the homozygous state, β-thalassemia (i.e., thalassemia major) causes severe transfusion-dependent anemia. Inherited β-thalassemia syndromes cause high degree of hemolytic anemia, recurrent [...] Read more.
Beta (β) thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of β-globin chains. In the homozygous state, β-thalassemia (i.e., thalassemia major) causes severe transfusion-dependent anemia. Inherited β-thalassemia syndromes cause high degree of hemolytic anemia, recurrent fever, clinical jaundice, frequent infections, bossing of cheek bones, growth retardation, splenomegaly, etc. and are responsible for high infant morbidity, mortality and fetal wastage in India. The victims include the infants, growing children, adolescent girls, pregnant women and a large chunk of ignorant people. In view of heavy genetic load, frequent requirement of blood transfusions, high cost of treatment and management, physical trauma, and mental and psychological harassment to the patients and their families, it has been realized that preventive community health and genetics approach is the most suitable for India. After carrier detection, prenatal diagnosis, and genetic couselling are the important options for couples at high risk for β-thalassemia. A prerequisite for successful prevention and intervention approach in India is the health education, bringing public awareness, sensitization, and community screening for the identification of heterozygotes or carriers in the concerned community. Some suggestions for the prevention of β-thalassemia in the vulnerable communities of India have been over emphasized for amelioration. Full article
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Article
Preimplantation Diagnosis: Efficient Tool for Human Leukocyte Antigen Matched Bone Marrow Transplantation for Thalassemia
by Anver Kuliev, Tatiana Packalchuk, Oleg Verlinsky and Svetlana Rechitsky
Thalass. Rep. 2011, 1(1), e1; https://doi.org/10.4081/thal.2011.e1 - 04 Aug 2011
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Abstract
Thalassemia is among the most frequent indications for preimplantation genetic diagnosis (PGD) to allow at risk couples reproducing without fear of having an affected child. In addition, those already having the affected child, have also the option to produce an unaffected offspring that [...] Read more.
Thalassemia is among the most frequent indications for preimplantation genetic diagnosis (PGD) to allow at risk couples reproducing without fear of having an affected child. In addition, those already having the affected child, have also the option to produce an unaffected offspring that may be also a complete human leukocyte antigen (HLA) match to affected child to ensure successful bone marrow transplantation. We present here the results of retrospective analysis of 293 PGD cycles for thalassemia, including 144cases of simultaneous HLA typing, resulting in birth of 70 thalassemia-free children and 12 unaffected HLA matched ones, providing their cord blood and/or bone marrow for transplantation treatment of their affected siblings. The present overall experience includes successful cord blood or bone marrow transplantation in more than three dozens of cases with HLA matched stem cells obtained from children born after PGD, demonstrating that PGD is an efficient approach for improving success of bone marrow transplantation treatment for thalassemia.
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