Sickle cell disease

Common Name(s)

Sickle cell disease, Sickle cell anemia, Hb SS disease

Sickle cell anemia (Hb SS) is a rare genetic condition. Hb SS affects the number or shape of the red blood cells in the body. Normally, the red blood cells are round and donut-shaped. They bring the oxygen we breathe from our lungs to different parts of our body. Those with Hb SS make some red blood cells that are crescent or sickle shaped rather than a round, donut shape. These unusually shaped cells do not last as long as normal red blood cells and die off. This can lead to anemia (a low number of red blood cells). The sickle or crescent shaped cells also tend to get stuck in blood vessels. When this happens, some parts of the body may not get enough blood. If red blood cells are not able to move through the blood vessels, parts of the body cannot get enough oxygen. Therefore, it is very important for our bodies to have an adequate number of red blood cells.

Those affected by Hb SS may develop signs and symptoms a couple of months after birth. The characteristic features of this condition may include pale skin, sleeping longer or more often, tiredness, difficulty breathing, pain or swelling in the hands or feet, and cold hands or feet. If untreated, this disorder can lead to organ failure and death. Many of these complications can be prevented with early detection and lifelong management with appropriate medications, fluids, and blood transfusions. Many babies are screened for Hb SS at birth so that treatment can begin early, however the conditions included in newborn screening differ from state to state. For more information, visit Baby’s First Test. Hb SS is an autosomal recessive trait. A genetic counselor can help you understand the genetics. Also talk with your doctor and specialists to decide on the best treatment plan. Support groups are also a good source of information.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sickle cell disease" for support, advocacy or research.

Citizens for Quality Sickle Cell Care-SCDAA-Northern, CT Chapter, Inc.

To ensure the availability and accessibility of quality and comprehensive medical care and support services for children and adults in northern Connecticut with Sickle Cell Disease and other related disorders.

Last Updated: 13 Jan 2014

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North Alabama Sickle Cell Foundation, Inc.

North Alabama Sickle Cell’s mission is to aid and enhance the lives of those affected by Sickle Cell and associated disorders through the provision of supportive services, education and advocacy.

Last Updated: 16 Jan 2014

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Sickle Cell Disease Association of America, Southern Connecticut, Inc.

The Sickle Cell Disease Association of America Southern Connecticut Inc. mission is to provide education,screening, counseling,and support services to persons affected with sickle cell disease and the trait.

Last Updated: 3 May 2014

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William E. Proudford Sickle Cell Fund, Inc.

Our mission is to support sickle cell awareness, education, state-of-the-art treatment and research, and to bring hope to families affected by this devastating disease.

Last Updated: 30 May 2015

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The Baton Rouge Sickle Cell Anemia Foundation, Inc.

The Foundation is proud of its ongoing efforts to meet and exceed its established mission by bringing innovative and creative programs (1) to provide financial and advocacy supportive services to persons diagnosed with sickle cell disease; (2) to provide treatment support to enhance the quality of life for those suffering from sickle cell disease; and (3) to educate the general public about sickle cell disease.

Last Updated: 5 Mar 2013

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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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Children's Sickle Cell Foundation, Inc.

The mission of the Children’s Sickle Cell Foundation, Inc. (CSCF) is to provide support for children with sickle cell disease (SCD) and their families to help them face the educational, social and economic challenges caused by the disease. Our commitment to sickle cell disease education and community outreach, and support for sickle cell disease research are natural extensions of this mission. CSCF is the sole provider of community based programs for children with SCD in Western Pennsylvania. Some of the programs offered by CSCF are the Family, Educational Support and Learn2Swim.

Last Updated: 1 Jun 2015

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Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

Last Updated: 12 May 2015

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Hina Patel Foundation

To increase the awareness in Kern County about Sickle Cell Disease and trait and provide accessible services, including education, testing, and counseling with the ultimate goal of enhancing the well-being of the affected people and their families.

Last Updated: 11 Jun 2015

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Sickle Cell Disease Association of America, Inc-Eastern NC Chapter

To improve the quality of life for persons and families affected by sickle cell disease and related genetic disorders

Last Updated: 20 Feb 2013

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Sickle Cell Disease Association of America, Inc.

Our mission is to help improve the quality of life for persons/families affected by the sickle cell syndrome and related genetic disorders.

Last Updated: 1 Jun 2015

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Sickle Cell Disease Association of Illinois

Our primary mission is to enhance the quality of life for people with sickle cell disease and their families. To effectively achieve this goal, the Sickle Cell Disease Association of Illinois (SCDAI) acts as an advocate for improved health care and services for individuals with sickle cell by educating and informing the community through outreach programs.

Last Updated: 4 Oct 2013

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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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Sickle Cell Society

Our vision is to be the most successful sickle cell organisation nationally with a wide network of well-informed, committed and active supporters working at local, national and international levels. We will be better able to empower and assist people with sickle cell disorders to achieve their full economic and social potential.

Last Updated: 23 Jun 2015

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Sickle cell disease" for support, advocacy or research.

Citizens for Quality Sickle Cell Care-SCDAA-Northern, CT Chapter, Inc.

To ensure the availability and accessibility of quality and comprehensive medical care and support services for children and adults in northern Connecticut with Sickle Cell Disease and other related disorders.

http://www.cqscc.org

Last Updated: 13 Jan 2014

View Details
North Alabama Sickle Cell Foundation, Inc.

North Alabama Sickle Cell’s mission is to aid and enhance the lives of those affected by Sickle Cell and associated disorders through the provision of supportive services, education and advocacy.

http://sicklecellna.org

Last Updated: 16 Jan 2014

View Details
Sickle Cell Disease Association of America, Southern Connecticut, Inc.

The Sickle Cell Disease Association of America Southern Connecticut Inc. mission is to provide education,screening, counseling,and support services to persons affected with sickle cell disease and the trait.

http://www.scdaaofsouthernct.org/

Last Updated: 3 May 2014

View Details
William E. Proudford Sickle Cell Fund, Inc.

Our mission is to support sickle cell awareness, education, state-of-the-art treatment and research, and to bring hope to families affected by this devastating disease.

http://www.wepsicklecell.org

Last Updated: 30 May 2015

View Details
The Baton Rouge Sickle Cell Anemia Foundation, Inc.

The Foundation is proud of its ongoing efforts to meet and exceed its established mission by bringing innovative and creative programs (1) to provide financial and advocacy supportive services to persons diagnosed with sickle cell disease; (2) to provide treatment support to enhance the quality of life for those suffering from sickle cell disease; and (3) to educate the general public about sickle cell disease.

http://brscaf.org

Last Updated: 5 Mar 2013

View Details
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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.

http://www.ascaa.org

Last Updated: 1 Jun 2015

View Details
Logo
Children's Sickle Cell Foundation, Inc.

The mission of the Children’s Sickle Cell Foundation, Inc. (CSCF) is to provide support for children with sickle cell disease (SCD) and their families to help them face the educational, social and economic challenges caused by the disease. Our commitment to sickle cell disease education and community outreach, and support for sickle cell disease research are natural extensions of this mission. CSCF is the sole provider of community based programs for children with SCD in Western Pennsylvania. Some of the programs offered by CSCF are the Family, Educational Support and Learn2Swim.

http://www.cscfkids.org

Last Updated: 1 Jun 2015

View Details
Cochrane Collaboration

The Cochrane Collaboration is an international network of healthcare professionals, researchers and consumers preparing, maintaining, and disseminating high quality systematic reviews of randomised control trials. This review group focuses on genetic disorders such as cystic fibrosis (CF), haemoglobinopathies, coagulopathies and inborn errors of metabolism.

http://cfgd.cochrane.org

Last Updated: 12 May 2015

View Details
Logo
Hina Patel Foundation

To increase the awareness in Kern County about Sickle Cell Disease and trait and provide accessible services, including education, testing, and counseling with the ultimate goal of enhancing the well-being of the affected people and their families.

http://www.hinapatelfoundation.org

Last Updated: 11 Jun 2015

View Details
Logo
Sickle Cell Disease Association of America, Inc-Eastern NC Chapter

To improve the quality of life for persons and families affected by sickle cell disease and related genetic disorders

http://www.sicklecelleasternnc.org

Last Updated: 20 Feb 2013

View Details
Sickle Cell Disease Association of America, Inc.

Our mission is to help improve the quality of life for persons/families affected by the sickle cell syndrome and related genetic disorders.

http://www.sicklecelldisease.org/

Last Updated: 1 Jun 2015

View Details
Sickle Cell Disease Association of Illinois

Our primary mission is to enhance the quality of life for people with sickle cell disease and their families. To effectively achieve this goal, the Sickle Cell Disease Association of Illinois (SCDAI) acts as an advocate for improved health care and services for individuals with sickle cell by educating and informing the community through outreach programs.

http://www.scdai.org

Last Updated: 4 Oct 2013

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

View Details
Logo
Sickle Cell Society

Our vision is to be the most successful sickle cell organisation nationally with a wide network of well-informed, committed and active supporters working at local, national and international levels. We will be better able to empower and assist people with sickle cell disorders to achieve their full economic and social potential.

http://www.sicklecellsociety.org/

Last Updated: 23 Jun 2015

View Details
werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show 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 "Sickle cell disease" returned 1277 free, full-text research articles on human participants. First 3 results:

Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer.
 

Author(s): Siana N Mtatiro, Josephine Mgaya, Tarjinder Singh, Harvest Mariki, Helen Rooks, Deogratius Soka, Bruno Mmbando, Swee Lay Thein, Jeffrey C Barrett, Julie Makani, Sharon E Cox, Stephan Menzel

Journal:

 

Common genetic variants residing near upstream regulatory elements for MYB, the gene encoding transcription factor cMYB, promote the persistence of fetal hemoglobin (HbF) into adulthood. While they have no consequences in healthy individuals, high HbF levels have major clinical benefits ...

Last Updated: 1 May 2015

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Air pollution and children's health: sickle cell disease.
 

Author(s): Silvia Maria de Macedo Barbosa, Sylvia Costa Lima Farhat, Lourdes Conceição Martins, Luiz Alberto Amador Pereira, Paulo Hilário Nascimento Saldiva, Antonella Zanobetti, Alfésio Luís Ferreira Braga

Journal: Cad Saude Publica. 2015 Feb;31(2):265-75.

 

The hallmarks of sickle cell disease are anemia and vasculopathy. The aim of this study was to assess the association between air pollution and children's emergency room visits of sickle cell patients. We adopted a case-crossover design. Daily counts of children's and adolescents' ...

Last Updated: 12 Mar 2015

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The CCR5Δ32 polymorphism in Brazilian patients with sickle cell disease.
 

Author(s): Mariana Pezzute Lopes, Magnun Nueldo Nunes Santos, Eliel Wagner Faber, Marcos André Cavalcanti Bezerra, Betânia Lucena Domingues Hatzlhofer, Dulcinéia Martins Albuquerque, Tânia Regina Zaccariotto, Daniela Maria Ribeiro, Aderson da Silva Araújo, Fernando Ferreira Costa, Maria de Fátima Sonati

Journal: Dis. Markers. 2014 ;2014():678246.

 

Previous studies on the role of inflammation in the pathophysiology of sickle cell disease (SCD) suggested that the CCR5Δ32 allele, which is responsible for the production of truncated C-C chemokine receptor type 5 (CCR5), could confer a selective advantage on patients with SCD because ...

Last Updated: 30 Dec 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 "Sickle cell disease" returned 133 free, full-text review articles on human participants. First 3 results:

The ethnic distribution of sickle cell disease in Sudan.
 

Author(s): Majdi Mohammed Sabahelzain, Hanan Hamamy

Journal:

 

Sickle cell disease (SCD) is one of the most common inherited disorders of haemoglobin in Africa and it is expected that sickle cell trait varies in frequency in different areas in Sudan. An extensive literature search was carried out accessing the US National Library of Medicine, ...

Last Updated: 31 Oct 2014

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Bilateral pulmonary embolism in an adolescent with sickle cell disease and a recent total hip arthroplasty: a case report and review of the literature.
 

Author(s): Jeremy M Burnham, Marlene Broussard, Todd Milbrandt

Journal: Iowa Orthop J. 2014 ;34():107-10.

 

Pulmonary embolism is a life-threatening but treatable condition. Factors such as hypercoagulability and recent lower extremity surgery are associated with a higher incidence of thrombus formation and pulmonary embolism. Patients with sickle cell disease have a baseline hypercoaguable ...

Last Updated: 20 Oct 2014

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Sickle cell disease: a neglected chronic disease of increasing global health importance.
 

Author(s): Subarna Chakravorty, Thomas N Williams

Journal: Arch. Dis. Child.. 2015 Jan;100(1):48-53.

 

Sickle cell disease (SCD) is a single gene disorder causing a debilitating systemic syndrome characterised by chronic anaemia, acute painful episodes, organ infarction and chronic organ damage and by a significant reduction in life expectancy. The origin of SCD lies in the malarial ...

Last Updated: 16 Dec 2014

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Decision Aid for Therapeutic Options In Sickle Cell Disease
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Sickle Cell Anemia; Hemoglobin SS; Hemoglobin SC; Hemoglobin Beta Thalassemia

 

Last Updated: 13 Jul 2015

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Hematopoietic Stem Cell Transplant for Sickle Cell Disease
 

Status: Not yet recruiting

Condition Summary: Sickle Cell Disease; Sickle Cell Anemia; SCD

 

Last Updated: 17 Mar 2015

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Gene Transfer for Patients With Sickle Cell Disease
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Sickle Cell Anemia

 

Last Updated: 16 Apr 2015

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