Clinical hemoglobinopathies: iron, lungs and new blood

Morris, Claudia R.; Singer, Sylvia T.; Walters, Mark C.

doi:10.1097/01.moh.0000245685.24462.4e

Cited by 24 publications

(35 citation statements)

References 112 publications

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“…The commonest form of life-long treatment for individuals with beta-thalassemia major is regular blood transfusions in order to maintain a Hb blood concentration >90 g/L and to compensate for ineffective erythropoiesis [16,65]. Moreover for beta-thalassemia major, patients are unable to grow and develop at infancy and may die if untreated by regular transfusions [66].…”

Section: Blood Transfusion Therapy and Its Complicationsmentioning

confidence: 99%

“…Thus, it was postulated that the hypomethylating agent 5-azacytidine, which switches off expression of adult to fetal Hb form in adult baboons, and butyrate may alter the pattern of erythropoeisis in humans with beta-thalassemia and increase the expression of -chain genes [64]. Although the mechanism is unknown, hydroxyurea treatment has been observed to increase Hb levels, reduce brain masses and leg ulcers [65]. Also, studies in mouse models are being pursued for gene correction in hematopoietic stem cells using lentiviral vectors [64].…”

Section: Future Therapiesmentioning

confidence: 99%

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Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Lahiry¹,

Al-Attar²,

Ra³

2008

TOHJ

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Beta-thalassemia is one of the most prevalent autosomal disorders in the world. Mutations in the HBB gene underlie deficiencies in hemoglobin production, which can interfere with oxygen delivery resulting in wide range of disease severity. Although >535 mutations have been characterized in the HBB gene, beta-thalassemia is broadly classified into three groups, based on clinical severity: beta-thalassemia major, beta-thalassemia intermedia and beta-thalassemia minor. In this article we review: 1) the molecular and biochemical basis of beta-thalassemia; 2) clinical features; 3) the range of common molecular variants of beta-thalassemia in a subset of geographic regions within the Indian Subcontinent and the Middle East; 4) potential molecular diagnostics; and 5) current and future treatments. We suggest that efforts to more completely characterize the HBB mutation distribution in high-risk areas, such as the Indian Subcontinent and the Middle East, may lead to improved diagnosis with earlier and more effective intervention strategies.

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Section: Blood Transfusion Therapy and Its Complicationsmentioning

confidence: 99%

Section: Future Therapiesmentioning

confidence: 99%

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Lahiry¹,

Al-Attar²,

Ra³

2008

TOHJ

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“…70 Some questions remain with respect to its long-term effects, 75 and particularly with respect to its carcinogenic potential 67 and event-free survival of 85%. This is an option that can cure the disease for patients who have a compatible donor in the family, 10 particularly patients aged less than 16 years, who…”

Section: S43mentioning

confidence: 99%

“…The limitation to achieving greater success with this method is the scarcity of related HLA-compatible donors. 10,124 Gene therapy is also being investigated with animal models for this reason. 120 Transferring the normal β gene to hematopoietic stem cells could lead to a permanent cure.…”

Section: Treatmentmentioning

confidence: 99%

“…Improved understanding of the etiology and mechanisms of anemia, earlier diagnosis, new therapeutic approaches and better management of transfusion iron overload have dramatically improved the clinical picture. 10 This article summarizes the data that have most recently been made available in the literature on pathophysiologic aspects, diagnosis and treatment of the SCD and β-thalassemia.…”

Section: Introductionmentioning

confidence: 99%

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Genética das doenças hematológicas: as hemoglobinopatias hereditárias

Sonati¹,

Costa²

2008

J. Pediatr. (Rio J.)

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Objective: To summarize recently published data on the pathophysiology, diagnosis and treatment of sickle cell diseases and β-Thalassemias, the most relevant hereditary hemoglobinopathies in the global population.Sources: Searches were run on the MEDLINE and SCIELO databases, limited to the period from 2003 to May 2008, using the terms hereditary hemoglobinopathies, sickle cell diseases and β-thalassemia. Two books and two chapters were also included. Summary of the findings:More than 2,000 articles were identified; those providing the most important information and broadest views were selected.Conclusions: Morbidity and mortality rates from sickle cell diseases and β-thalassemia are still very high and represent an important challenge. Increased understanding of pathophysiological aspects has lead to significant improvements in treatment and prevention of these diseases. J Pediatr (Rio J). 2008;84(4 Suppl):S40-51:Hereditary hemoglobinopathies, sickle cell diseases, β-thalassemia.

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Transition from pediatric to adult care in sickle cell disease: Establishing evidence‐based practice and directions for research

Treadwell¹,

et al. 2010

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Transition of young adults with sickle cell disease (SCD) from pediatric to adult medical care is an important priority, given medical advances that have transformed SCD into a lifelong chronic condition, rather than a disease of childhood. Successful transfer from pediatric to adult care has its foundation in collaboration among the young adult, the family, and the health care system to support building skills in positive disease management and independent living. Systemic issues in transition from pediatric to adult care for individuals with SCD include limited access to adult providers with the skills and/or interest in caring for people with SCD; poor communication and follow-up between pediatric and adult providers; and insurance coverage and reimbursement for care coordination. Family and patient issues in transition include lack of skill development for successful transition into adulthood; absence of financial independence; fear of the unknown; and increasing morbidity with age. The design and evaluation of successful transition programming in SCD requires clarity in conceptual frameworks and consistent measurement, both before and after transfer to adult care. Strategies used by three SCD transition programs and future directions for research and program development are presented.

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Clinical hemoglobinopathies: iron, lungs and new blood

Abstract: In this review, several areas that are very likely to have a significant impact in the management of patients who inherit these disorders are discussed.

Cited by 24 publications

References 112 publications

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Understanding Beta-Thalassemia with Focus on the Indian Subcontinent and the Middle East

Genética das doenças hematológicas: as hemoglobinopatias hereditárias

Transition from pediatric to adult care in sickle cell disease: Establishing evidence‐based practice and directions for research

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