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 119 free, full-text research articles on human participants. First 3 results:

[Epidemiological profile of hemoglobinopathies: a cross-sectional and descriptive index case study].
 

Author(s): Fatima Dahmani, Souad Benkirane, Jaafar Kouzih, Aziz Woumki, Hassan Mamad, Azlarab Masrar

Journal:

 

Hemoglobinopathies are congenital disorders resultimg from hemoglobin abnormalities. Major forms are often severe, their management is difficult and associated with a great psychosocial impact on patients and their families. They are classified as rare diseases and are still insufficiently ...

Last Updated: 31 Dec 1969

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Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.
 

Author(s): Xuan Shang, Zhiyu Peng, Yuhua Ye, Asan, Xinhua Zhang, Yan Chen, Baosheng Zhu, Wangwei Cai, Shaoke Chen, Ren Cai, Xiaoling Guo, Chonglin Zhang, Yuqiu Zhou, Shuodan Huang, Yanhui Liu, Biyan Chen, Shanhuo Yan, Yajun Chen, Hongmei Ding, Xiaolin Yin, Liusong Wu, Jing He, Dongai Huang, Sheng He, Tizhen Yan, Xin Fan, Yuehong Zhou, Xiaofeng Wei, Sumin Zhao, Decheng Cai, Fengyu Guo, Qianqian Zhang, Yun Li, Xuelian Zhang, Haorong Lu, Huajie Huang, Junfu Guo, Fei Zhu, Yuan Yuan, Li Zhang, Na Liu, Zhiming Li, Hui Jiang, Qiang Zhang, Yijia Zhang, Wan Khairunnisa Wan Juhari, Sarifah Hanafi, Wanjun Zhou, Fu Xiong, Huanming Yang, Jian Wang, Bin Alwi Zilfalil, Ming Qi, Yaping Yang, Ye Yin, Mao Mao, Xiangmin Xu

Journal: EBioMedicine. 2017 Sep;23():150-159.

 

Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier ...

Last Updated: 31 Dec 1969

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Anti-Toxoplasma gondii antibodies in patients with beta-hemoglobinopathies: the first report in the Americas.
 

Author(s): Marina Neves Ferreira, Claudia Regina Bonini-Domingos, Isabeth Fonseca Estevão, Clarice Lopes de Castro Lobo, Gisele Cristina Souza Carrocini, Aparecida Perpétuo Silveira-Carvalho, Octávio Ricci, Luiz Carlos de Mattos, Cinara Cássia Brandão de Mattos

Journal:

 

In Brazil, there have been no previous studies of Toxoplasma gondii infection in sickle cell anemia patients and carriers of severe forms of beta-thalassemia. This study evaluated T. gondii infection in patients with beta-hemoglobinopathies.

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 "Hemoglobinopathies" returned 23 free, full-text review articles on human participants. First 3 results:

Gene Therapy for β-Hemoglobinopathies.
 

Author(s): Marina Cavazzana, Chiara Antoniani, Annarita Miccio

Journal: Mol. Ther.. 2017 05;25(5):1142-1154.

 

β-Thalassemia and sickle cell disease (SCD) are the world's two most widely disseminated hereditary hemoglobinopathies. β-Thalassemia originated in the Mediterranean, Middle Eastern, and Asian regions, and SCD originated in central Africa. However, subsequent population migration ...

Last Updated: 31 Dec 1969

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[Regulation of the β-globin gene family expression, useful in the search for new therapeutic targets for hemoglobinopathies].
 

Author(s): Karen G Scheps, Viviana Varela

Journal: Medicina (B Aires). ;76(6):383-389.

 

Different hemoglobin isoforms are expressed during the embryonic, fetal and postnatal stages. They are formed by combination of polypeptide chains synthesized from the α- and β-globin gene clusters. Based on the fact that the presence of high hemoglobin F levels is beneficial in ...

Last Updated: 31 Dec 1969

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The Second Pediatric Blood and Marrow Transplant Consortium International Consensus Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation: Defining the Unique Late Effects of Children Undergoing Hematopoietic Cell Transplantation for Immune Deficiencies, Inherited Marrow Failure Disorders, and Hemoglobinopathies.
 

Author(s): Andrew C Dietz, Christine N Duncan, Blanche P Alter, Dorine Bresters, Morton J Cowan, Luigi Notarangelo, Philip S Rosenberg, Shalini Shenoy, Roderick Skinner, Mark C Walters, John Wagner, K Scott Baker, Michael A Pulsipher

Journal: Biol. Blood Marrow Transplant.. 2017 Jan;23(1):24-29.

 

An international consensus conference sponsored by the Pediatric Blood and Marrow Transplant consortium entitled "Late Effects Screening and Recommendations Following Allogeneic Hematopoietic Cell Transplant for Immune Deficiency and Nonmalignant Hematologic Disease" was held in Minneapolis, ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Non-Myeloablative Conditioning and Bone Marrow Transplantation
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Hemoglobinopathies

 

Last Updated: 14 Jun 2018

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Sickle Cell Hemoglobinopathies and Bone Health
 

Status: Recruiting

Condition Summary: Sickle Cell Disease; Sickle Cell Trait

 

Last Updated: 12 Apr 2018

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Bone Marrow for Hemoglobinopathy Research
 

Status: Recruiting

Condition Summary: Sickle Cell Anemia; Thalassemia

 

Last Updated: 12 Feb 2018

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