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: 11 Feb 2013

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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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How do you compare to others with this condition?

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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: 11 Feb 2013

View Details
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 92 free, full-text research articles on human participants. First 3 results:

Last Updated: 5 Feb 2014

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Efficacy and safety of sildenafil for the treatment of severe pulmonary hypertension in patients with hemoglobinopathies: results from a long-term follow up.
 

Author(s): Giorgio Derchi, Manuela Balocco, Patrizio Bina, Vincenzo Caruso, Domenico G D'Ascola, Roberto Littera, Raffaella Origa, Maria D Cappellini, Gian L Forni

Journal: Haematologica. 2014 Feb;99(2):e17-8.

 

Last Updated: 5 Feb 2014

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Diabetes monitoring in hemoglobinopathies.
 

Author(s): M Shriraam, M Sridhar

Journal: Indian Pediatr. 2013 Nov;50(11):1066-7.

 

Last Updated: 2 Jan 2014

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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 22 free, full-text review articles on human participants. First 3 results:

Genetic association studies in β-hemoglobinopathies.
 

Author(s): Swee Lay Thein

Journal: Hematology Am Soc Hematol Educ Program. 2013 ;2013():354-61.

 

Characterization of the molecular basis of the β-thalassemias and sickle cell disease (SCD) clearly showed that individuals with the same β-globin genotypes can have extremely diverse clinical severity. Two key modifiers, an innate ability to produce fetal hemoglobin and coinheritance ...

Last Updated: 9 Dec 2013

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Genetic epidemiology, hematological and clinical features of hemoglobinopathies in Iran.
 

Author(s): Zohreh Rahimi

Journal: Biomed Res Int. 2013 ;2013():803487.

 

There is large variation in the molecular genetics and clinical features of hemoglobinopathies in Iran. Studying structural variants of hemoglobin demonstrated that the β-chain variants of hemoglobin S and D-Punjab are more prevalent in the Fars (southwestern Iran) and Kermanshah ...

Last Updated: 15 Jul 2013

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Hemoglobinopathies: slicing the Gordian knot of Plasmodium falciparum malaria pathogenesis.
 

Author(s): Steve M Taylor, Carla Cerami, Rick M Fairhurst

Journal: PLoS Pathog.. 2013 ;9(5):e1003327.

 

Plasmodium falciparum malaria kills over 500,000 children every year and has been a scourge of humans for millennia. Owing to the co-evolution of humans and P. falciparum parasites, the human genome is imprinted with polymorphisms that not only confer innate resistance to falciparum ...

Last Updated: 22 May 2013

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Symptoms, Diagnosis, and Treatment

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: 17 Jul 2014

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