Hemoglobinopathies

Common Name(s)

Hemoglobinopathies

Hemoglobinopathies are also known as hemoglobin disorders. Hemoglobin is a chemical found in the blood and its function is to carry oxygen from the lungs to the rest of the body. Hemoglobinopathies occur when there is a problem with this chemical and it is not able to function correctly. Symptoms of hemoglobinopathy range from none to severe shortness of breath and fatigue. If untreated, hemoglobinopathies may potentially lead to organ damage or even death. In newborns, early signs include excessive tiredness, fatigue while eating or crying, and shortness of breath. Sickle cell anemia and thalassemia are common examples of hemoglobinopathies. Most are genetic disorders, meaning that they may be transferred from parents to their children. This condition often requires lifelong management, including frequent check-ups, medications, and/or blood transfusions.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemoglobinopathies" for support, advocacy or research.

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American Sickle Cell Anemia Association

ASCAA is an organization that provides quality and comprehensive services through diagnostic testing, evaluation, couseling, and supportive services to individuals and families at-risk for sickle cell disease.

Last Updated: 1 Jun 2015

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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Sickle Cell Disease Foundation of California

To provide education and life-enhancing programs and services to individuals with sickle cell disease, to broaden public awareness about sickle cell disease and to promote medical research and education to ultimately find a cure.

Last Updated: 27 Mar 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemoglobinopathies" for support, advocacy or research.

Logo
American Sickle Cell Anemia Association

ASCAA is an organization that provides quality and comprehensive services through diagnostic testing, evaluation, couseling, and supportive services to individuals and families at-risk for sickle cell disease.

http://www.ascaa.org

Last Updated: 1 Jun 2015

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Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

View Details
Sickle Cell Disease Foundation of California

To provide education and life-enhancing programs and services to individuals with sickle cell disease, to broaden public awareness about sickle cell disease and to promote medical research and education to ultimately find a cure.

http://www.scdfc.org/

Last Updated: 27 Mar 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hemoglobinopathies" returned 114 free, full-text research articles on human participants. First 3 results:

Hemoglobinopathies in newborns in the southern region of the Triângulo Mineiro, Brazil. Cross-sectional study.
 

Author(s): Aline Menezes Carlos, Renata Andréia Volpe Souza, Bruna Maria Bereta de Souza, Gilberto de Araujo Pereira, Sebastião Tostes Júnior, Paulo Roberto Juliano Martins, Helio Moraes-Souza

Journal: Sao Paulo Med J. ;133(5):439-44.

 

Hemoglobinopathies are among the commonest and most widespread genetic disorders worldwide. Their prevalence varies according to ethnic composition and/or geographical region. The aim of this study was to investigate the presence of hemoglobinopathies and their association with ethnicity ...

Last Updated: 9 Dec 2015

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[Hemoglobin variants in Colombian patients referred to discard hemoglobinopathies].
 

Author(s): Consuelo Romero-Sánchez, Alberto Gómez Gutiérrez, Yurani Duarte, Constanza Amazo, Clara Manosalva, Lorena Chila M, María Consuelo Casas-Gómez, Ignacio Briceño Balcázar

Journal: Rev Med Chil. 2015 Oct;143(10):1260-8.

 

Oxygen transport is altered in hemoglobinopathies.

Last Updated: 4 Dec 2015

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Burden of Hemoglobinopathies (Thalassemia, Sickle Cell Disorders and G6PD Deficiency) in Iran, 1990-2010: findings from the Global Burden of Disease Study 2010.
 

Author(s): Nazila Rezaei, Shohreh Naderimagham, Anoosheh Ghasemian, Sahar Saeedi Moghaddam, Kimia Gohari, Saeid Zareiy, Sahar Sobhani, Mitra Modirian, Farzad Kompani

Journal: Arch Iran Med. 2015 Aug;18(8):502-7.

 

Hemoglobinopathies are known as the most common genetic disorders in Iran. The paper aims to provide global estimates of deaths and disability adjusted life years (DALYs) due to hemoglobinopathies in Iran by sex and age during 1990 to 2010 and describe the challenges due to limitations ...

Last Updated: 12 Aug 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hemoglobinopathies" returned 18 free, full-text review articles on human participants. First 3 results:

Genomic approaches to identifying targets for treating β hemoglobinopathies.
 

Author(s): Duyen A Ngo, Martin H Steinberg

Journal:

 

Sickle cell disease and β thalassemia are common severe diseases with little effective pathophysiologically-based treatment. Their phenotypic heterogeneity prompted genomic approaches to identify modifiers that ultimately might be exploited therapeutically. Fetal hemoglobin (HbF) ...

Last Updated: 28 Jul 2015

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Genetic epidemiology and preventive healthcare in multiethnic societies: the hemoglobinopathies.
 

Author(s): Piero C Giordano, Cornelis L Harteveld, Egbert Bakker

Journal:

 

Healthy carriers of severe Hemoglobinopathies are usually asymptomatic and only efficiently detected through screening campaigns. Based upon epidemiological data, screenings have been offered for decades to populations of endemic Southern Europe for primary prevention of Thalassemia ...

Last Updated: 13 Jun 2014

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Modulators of erythropoiesis: emerging therapies for hemoglobinopathies and disorders of red cell production.
 

Author(s): Laura Breda, Stefano Rivella

Journal: Hematol. Oncol. Clin. North Am.. 2014 Apr;28(2):375-86.

 

Use of new compound such as inhibitors of JAK2 or transforming growth factor β-like molecules might soon revolutionize the treatment of β-thalassemia and related disorders. However, this situation requires careful optimization, noting the potential for off-target immune suppression ...

Last Updated: 4 Mar 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Pilot Study of HSCT for Patients With High-Risk Hemoglobinopathy Using a Nonmyeloablative Preparative Regimen
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Thalassemia; Hemoglobinopathies

 

Last Updated: 16 Oct 2008

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Interferon and Ribavirin Treatment in Patients With Hemoglobinopathies
 

Status: Recruiting

Condition Summary: Hemoglobinopathies

 

Last Updated: 22 Apr 2009

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Non-Myeloablative Conditioning and Bone Marrow Transplantation
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Hemoglobinopathies

 

Last Updated: 11 May 2016

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