Hemoglobin H Disease

Common Name(s)

Hemoglobin H Disease

Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by {6:Lal et al., 2011}). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by {1:Chui et al., 2003}). Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by {6:Lal et al., 2011}). While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemoglobin H Disease" 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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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hemoglobin H Disease" 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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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 "Hemoglobin H Disease" returned 36 free, full-text research articles on human participants. First 3 results:

Hemoglobin H Disease in Turkey: Experience from Eight Centers.
 

Author(s): Selma Ünal, Gönül Oktay, Can Acıpayam, Gül İlhan, Edip Gali, Tiraje Celkan, Ali Bay, Barış Malbora, Nejat Akar, Yeşim Oymak, Tayfur Toptaş

Journal: Turk J Haematol. 2016 Mar;33(1):56-9.

 

The purpose of this study was to research the problem of hemoglobin H (HbH) disease, to reveal the distribution patterns among different health centers, and to emphasize the importance of this disease for Turkey. A total of 273 patients were included from 8 hemoglobinopathy centers. ...

Last Updated: 31 Dec 1969

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Rapid and reliable preimplantation genetic diagnosis of common hemoglobin Bart's hydrops fetalis syndrome and hemoglobin H disease determinants using an enhanced single-tube decaplex polymerase chain reaction assay.
 

Author(s): Min Chen, Seong Feei Loh, Su Ling Yu, Suresh Nair, Heng Hao Tan, Sadhana Nadarajah, Peng-Cheang Wong, Soon Chye Ng, Ethiraj B Prasath, Arnold S C Tan, Felicia S H Cheah, Eugene E L Saw, Samuel S Chong

Journal: Am. J. Hematol.. 2015 Sep;90(9):E194-6.

 

Last Updated: 31 Dec 1969

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Differences in the erythropoiesis-hepcidin-iron store axis between hemoglobin H disease and β-thalassemia intermedia.
 

Author(s): Raffaella Origa, Mario Cazzola, Elisabetta Mereu, Fabrice Danjou, Susanna Barella, Nicolina Giagu, Renzo Galanello, Dorine W Swinkels

Journal: Haematologica. 2015 May;100(5):e169-71.

 

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 "Hemoglobin H Disease" returned 1 free, full-text review articles on human participants. First 3 results:

Hemoglobin H disease: not necessarily a benign disorder.
 

Author(s): David H K Chui, Suthat Fucharoen, Vivian Chan

Journal: Blood. 2003 Feb;101(3):791-800.

 

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Screening for Alpha Thalassemia in Healthy Volunteers
 

Status: Recruiting

Condition Summary: Alpha Thalassemia

 

Last Updated: 25 Nov 2017

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In Utero Hematopoietic Stem Cell Transplantation for Alpha-thalassemia Major (ATM)
 

Status: Recruiting

Condition Summary: Alpha Thalassemia Major; Hemoglobinopathy; With Thalassemia; Hemoglobinopathies; Fetal Anemia; Fetal Hydrops; Alpha; Thalassemia; Thalassemia Major; Thalassemia Alpha; A-Thalassemia

 

Last Updated: 5 Oct 2017

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Influence of Perioperative Fluid Therapy on Hemoglobin and Methemoglobin Levels
 

Status: Recruiting

Condition Summary: Perioperative/Postoperative Complications; Fluid Overload; Hemoglobin H

 

Last Updated: 10 Aug 2017

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