Sickle beta thalassemia

Common Name(s)

Sickle beta thalassemia

Sickle beta thalassemia (S/ßTh) is a rare genetic condition. S/ßTh 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 S/ßTh make some red blood cells that are crescent or sickle shaped rather than a round, donut shape. These sickle 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 S/ßTh may develop signs a couple of months after birth. The symptoms of this condition are similar to that of sickle cell disease, but may be less severe. These 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 S/ßTh at birth so that treatment can begin early, but the conditions included in newborn screening differ from state to state. For more information, visit Baby’s First Test. . S/ßTh 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 beta thalassemia" 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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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 Educational Support and Learn2Swim.

Last Updated: 11 Mar 2016

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Cooleys Anemia Foundation, Inc.

Advancing the treatment and cure for this genetic blood disease. Enhancing the quality of life of patients. Educating the medical profession, thalassemia trait carriers and the public about thalassemia.

Last Updated: 1 Jun 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 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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Sickle Cell/Thalassemia Patients Network

SCTPN is dedicated to improving the quality of life for individuals and their families living with sickle cell disease, thalassemia, and other hemoglobin variants by providing services that will help to reduce the negative physical, emotional, educational, social, and economic impact of debilitating hemoglobinopathies.

Last Updated: 1 Jun 2015

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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 "Sickle beta thalassemia" 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

View Details
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 Educational Support and Learn2Swim.

http://www.cscfkids.org

Last Updated: 11 Mar 2016

View Details
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Cooleys Anemia Foundation, Inc.

Advancing the treatment and cure for this genetic blood disease. Enhancing the quality of life of patients. Educating the medical profession, thalassemia trait carriers and the public about thalassemia.

http://cooleysanemia.org

Last Updated: 1 Jun 2015

View Details
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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.

http://www.hinapatelfoundation.org

Last Updated: 11 Jun 2015

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
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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.

http://www.sicklecellsociety.org/

Last Updated: 23 Jun 2015

View Details
Logo
Sickle Cell/Thalassemia Patients Network

SCTPN is dedicated to improving the quality of life for individuals and their families living with sickle cell disease, thalassemia, and other hemoglobin variants by providing services that will help to reduce the negative physical, emotional, educational, social, and economic impact of debilitating hemoglobinopathies.

http://sctpn.org

Last Updated: 1 Jun 2015

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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 "Sickle beta thalassemia" returned 45 free, full-text research articles on human participants. First 3 results:

Chronic Administration of Hydroxyurea (HU) Benefits Caucasian Patients with Sickle-Beta Thalassemia.
 

Author(s): Rosario Di Maggio, Matthew M Hsieh, Xiongce Zhao, Giuseppina Calvaruso, Paolo Rigano, Disma Renda, John F Tisdale, Aurelio Maggio

Journal:

 

In sickle cell disease (SCD), hydroxyurea (HU) treatment decreases the number of vaso-occlusive crisis (VOC) and acute chest syndrome (ACS) by increasing fetal hemoglobin (HbF). Data are lacking regarding the frequency of HU dose modification or whether sub-therapeutic doses (<15 ...

Last Updated: 31 Dec 1969

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Association between sickle cell and β-thalassemia genes and hemoglobin concentration and anemia in children and non-pregnant women in Sierra Leone: ancillary analysis of data from Sierra Leone's 2013 National Micronutrient Survey.
 

Author(s): James P Wirth, Rashid Ansumana, Bradley A Woodruff, Aminata S Koroma, Mary H Hodges

Journal:

 

By measuring the associations between the presence of sickle cell and β-thalassemia genes, we assessed the extent to which these hemoglobinopathies contribute to the high prevalence of anemia observed in preschool-aged children and women of reproductive age in Sierra Leone.

Last Updated: 31 Dec 1969

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Sickle cell trait with β-thalassemia, elliptocytosis, and thrombocytosis.
 

Author(s): Jamie L Lombardo, David T Lynch

Journal: Blood. 2017 09;130(10):1275.

 

Last Updated: 31 Dec 1969

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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 beta thalassemia" returned 2 free, full-text review articles on human participants. First 3 results:

Gene Addition Strategies for β-Thalassemia and Sickle Cell Anemia.
 

Author(s): Alisa C Dong, Stefano Rivella

Journal: Adv. Exp. Med. Biol.. 2017 ;1013():155-176.

 

Beta-thalassemia and sickle cell anemia are two of the most common diseases related to the hemoglobin protein. In these diseases, the beta-globin gene is mutated, causing severe anemia and ineffective erythropoiesis. Patients can additionally present with a number of life-threatening ...

Last Updated: 31 Dec 1969

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Genetic correction of sickle cell anemia and beta-thalassemia: progress and new perspective.
 

Author(s): Ajay Perumbeti, Punam Malik

Journal:

 

Gene therapy for beta-globinopathies, particularly Beta-thalassemia and sickle cell anemia, holds promise for the future as a definitive corrective approach for these common and debilitating disorders. Correction of the beta-globinopathies using lentivirus vectors carrying the beta- ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Haploidentical Hematopoietic Stem Cell Transplantation
 

Status: Recruiting

Condition Summary: Sickle Cell-thalassemia Disease; Thalassemia

 

Last Updated: 29 Mar 2018

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Epidemiology of Silent and Overt Strokes in Sickle Cell Anemia
 

Status: Recruiting

Condition Summary: Anemia, Sickle Cell; Sickle Cell Disease; Stroke; Sickle Cell Thalassemia; Sickle Cell-Beta0-Thalassemia

 

Last Updated: 18 Dec 2017

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CD34+ (Non-Malignant) Stem Cell Selection for Patients Receiving Allogeneic Stem Cell Transplantation
 

Status: Recruiting

Condition Summary: Bone Marrow Failure Syndrome; Severe Aplastic Anemia; Severe Congenital Neutropenia; Amegakaryocytic Thrombocytopenia; Diamond-Blackfan Anemia; Schwachman Diamond Syndrome; Primary Immunodeficiency Syndromes; Acquired Immunodeficiency Syndromes; Histiocytic Syndrome; Familial Hemophagocytic Lymphocytosis; Lymphohistiocytosis; Macrophage Activation Syndrome; Langerhans Cell Histiocytosis (LCH); Hemoglobinopathies; Sickle Cell Disease; Sickle Cell-beta-thalassemia

 

Last Updated: 13 Jul 2017

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