Pathophysiology and therapy for haemoglobinopathies. Part II: thalassaemias.

Pathophysiology and therapy for haemoglobinopathies. Part II: thalassaemias. Research Abstract Details 

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Pathophysiology and therapy for haemoglobinopathies. Part II: thalassaemias. Abstract Text:

Fabrizia Urbinati,Catherine Madigan,Punam Malik,

Thalassaemias result from mutations of the globin genes that cause reduced or absent haemoglobin production and thus interfere with the critical function of oxygen delivery. They represent the most common single-gene disorders, with 4.83% of the world population carrying globin gene variants. Reduced or absent alpha-globin (alpha-thalassaemia) or beta-globin (beta-thalassaemia) leads to anaemia and multifaceted clinical syndromes. In this second of two reviews on the pathophysiology of haemoglobinopathies, we describe the clinical features, pathophysiology and molecular basis of alpha- and beta-thalassaemias. We then discuss current targeted therapies, including the new oral iron chelators, which, along with chronic transfusions, constitute the mainstay of symptomatic therapy for the majority of patients. Finally, we describe potentially curative therapies, such as bone marrow transplant, and discuss some of the outstanding research studies and questions, including the upcoming field of gene therapy for beta-thalassaemia. An accompanying article on haemoglobinopathies (Part I) focuses on sickle cell disease.

Pathophysiology and therapy for haemoglobinopathies. Part II: thalassaemias. Publishing Authors By Initials

F Urbinati,C Madigan,P Malik,

For similar hemic and lymphatic diseases: hematologic diseases: anemia: anemia, hemolytic: anemia, hemolytic, congenital: thalassemia: beta-thalassemia research abstracts see: hemic and lymphatic diseases: hematologic diseases: anemia: anemia, hemolytic: anemia, hemolytic, congenital: thalassemia: beta-thalassemia research

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Pathophysiology and therapy for haemoglobinopathies. Part II: thalassaemias. Journal Published:

PUBLICATION TYPE: Review

Journal: Expert reviews in molecular medicine

VOLUME: 8

Page Numbers: 1-26

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ISSN: 1462-3994

DAY: 9

MONTH: 05

YEAR: 2006

Pathophysiology and therapy for haemoglobinopathies. Part II: thalassaemias. Information

Number of References: 232

LANGUAGE: eng

NlmUniqueID: 100939725

Pathophysiology and therapy for haemoglobinopathies. Part II: thalassaemias. Keywords Mesh Terms:

KEYWORDS: beta-Thalassemia

MESH TERMS: therapy

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Grant and Affiliation Information for Pathophysiology and therapy for haemoglobinopathies. Part II: thalassaemias.

AFFILIATION: Hematology/Oncology, Childrens Hospital Los Angeles, Mail Stop 54, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA. furbinati@chla.usc.edu

Country: England

AGENCY: United States NHLBI

GRANT: R01-HL70135-01

ACRONYM: HL

MEDLINETA: Expert Rev Mol Med

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