Pathophysiology and therapy for haemoglobinopathies. Part I: sickle cell disease.

Pathophysiology and therapy for haemoglobinopathies. Part I: sickle cell disease. Research Abstract Details 

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Pathophysiology and therapy for haemoglobinopathies. Part I: sickle cell disease. Abstract Text:

Catherine Madigan,Punam Malik,

In sickle cell disease, a single base pair substitution in the gene encoding the beta-globin chain of the haemoglobin molecule gives rise to a surprisingly broad spectrum of pathophysiological and clinical manifestations. Inflammation, endothelial activation, red blood cell membrane abnormalities and altered availability of vasoactive factors characterise this disorder. Clinically, patients suffer from a host of seemingly unrelated maladies, from pain episodes to strokes, life-threatening infections and pulmonary hypertension. Deepened understanding of this complex disease now allows us to begin to turn away from simple supportive treatments, and move towards therapies aimed at specific pathophysiological targets. This article, the first of two reviews on the pathophysiology of haemoglobinopathies, discusses the molecular basis of sickle cell disease, and elaborates on the many factors that exacerbate or ameliorate the disease process. It then focuses on the promising targeted therapies currently in use or under investigation. An accompanying article on haemoglobinopathies (Part II) focuses on thalassaemias.

Pathophysiology and therapy for haemoglobinopathies. Part I: sickle cell disease. Publishing Authors By Initials

C Madigan,P Malik,

For similar genetic phenomena: variation (genetics): mutation research abstracts see: genetic phenomena: variation (genetics): mutation research

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MEDLINE DATE:

Pathophysiology and therapy for haemoglobinopathies. Part I: sickle cell disease. Journal Published:

PUBLICATION TYPE: Review

Journal: Expert reviews in molecular medicine

VOLUME: 8

Page Numbers: 1-23

Journal Abbreviation:

ISSN: 1462-3994

DAY: 28

MONTH: 04

YEAR: 2006

Pathophysiology and therapy for haemoglobinopathies. Part I: sickle cell disease. Information

Number of References: 191

LANGUAGE: eng

NlmUniqueID: 100939725

Pathophysiology and therapy for haemoglobinopathies. Part I: sickle cell disease. Keywords Mesh Terms:

KEYWORDS: Mutation

MESH TERMS: complications

Chemical & Substance for Abstract: Pathophysiology and therapy for haemoglobinopathies. Part I: sickle cell disease. Information

Substance Name: Fetal Hemoglobin

Registry Number: 9034-63-3

Grant and Affiliation Information for Pathophysiology and therapy for haemoglobinopathies. Part I: sickle cell disease.

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

Country: England

AGENCY: United States NHLBI

GRANT: R01-HL70135-01

ACRONYM: HL

MEDLINETA: Expert Rev Mol Med

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