Thalassemia
What is Thalassemia?
Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production in red blood cells. Hemoglobins are proteins responsible for carrying oxygen from the lungs to the rest of the body. Adult red cells normally contain four hemoglobin proteins clustered together, two alpha proteins and two beta proteins. There are two main types of Thalassemia, alpha and beta, based on the defective hemoglobin gene underlying the disease. Severity may range from mild to life-threatening.
Thalassemia is an inherited blood disorder characterized by abnormal hemoglobin production in red blood cells. Hemoglobins are proteins responsible for carrying oxygen from the lungs to the rest of the body. Adult red cells normally contain four hemoglobin proteins clustered together, two alpha proteins and two beta proteins. There are two main types of Thalassemia, alpha and beta, based on the defective hemoglobin gene underlying the disease. Severity may range from mild to life-threatening.
Synonyms
Alpha Thalassemia: Hemoglobin H Disease, Hydrops Fetalis
Beta Thalassemia: Cooley’s Anemia
Globally the overall disease prevalence of thalassemias is estimated to be 18.3 cases per 100,000 people. Asymptomatic carriers having a mutation in one hemoglobin gene can be frequent in malaria endemic areas, as this condition may have a protective effect during infection. Alpha thalassemia carriers may be highly prevalent in certain Southeast Asian populations.
Alpha Thalassemia: Mutations in the HBA1 or HBA2 genes
Beta Thalassemia: Mutation in the HBB gene
The disease is classified as an autosomal recessive disorder, where both parents must be carriers to have an affected child. There is a 25% chance of having an affected child if both parents are carriers (see RareShare Guide on Genetic Inheritance).
Mild Forms: Asymptomatic or mild anemia (fatigue, pale skin)
Moderate to Severe Forms: Severe fatigue and weakness, pale or yellowish skin (jaundice), dark urine, facial bone deformities, slow growth and development in children, abdominal swelling from spleen and liver enlargement.
| Name | Description |
|---|---|
| Anemia | Anemia is a deficiency of hemoglobin. |
Diagnosing thalassemia may involve the following tests:
-
Complete Blood Count (CBC) to assess overall health and detect anemia
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Hemoglobin electrophoresis to identify abnormal hemoglobin types
-
DNA testing to confirm the specific genetic mutation
Mild thalassemia may require little or no treatment. Moderate to severe thalassemia may include the following:
-
Regular blood transfusions to maintain normal hemoglobin levels
-
Iron chelation therapy to remove excess iron from the body due to frequent transfusions
-
Folic acid supplements to support red blood cell production
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Bone marrow transplant - a potential cure for severe cases especially in children
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Gene therapy- two emerging potentially curative treatments Zynteglo and Casgevy for beta thalassemia have recently been approved by the U.S. Food and Drug Administration.
The prognosis will vary depending on the type and severity of the disease. Patients with mild thalassemia can expect normal life expectancy with little treatment. Severe thalassemia can impact life expectancy without proper treatment. Early diagnosis and treatment are important for better outcomes.
Cooley’s Anemia Foundation: https://www.thalassemia.org/
Thalassemia International Federation (TIF): https://thalassaemia.org.cy/who-we-are/
Last updated 28 Nov 2018, 04:47 AM
Last updated 4 Jul 2018, 08:48 PM
Last updated 5 Oct 2010, 02:31 AM
5 Oct 2010, 02:31 AM
Hi! I would love to hear from anyone who has been diagnosed with hasharon blood disorder.I'm told by RareShare that thalassemia is the most similiar disorder to hasharon.
| Title | Date | Link |
|---|---|---|
| FDA Approves REBLOZYL® (luspatercept-aamt) for the Treatment of Anemia in Adults With Beta Thalassemia Who Require Regular Red Blood Cell Transfusions | 11/17/2019 | |
| Newborn Screening Practices and Alpha-Thalassemia Detection — United States, 2016 | 09/12/2020 | |
| I've had a blood transfusion every 3 weeks since I was 2 months old due to a rare disease that can kill people in their 30s | 03/20/2022 | |
| Editas Medicine Gets FDA Rare Pediatric Disease Designation for EDIT-301 | 05/01/2022 | |
| bluebird bio Announces FDA Approval of ZYNTEGLO®, the First Gene Therapy for People with Beta-Thalassemia Who Require Regular Red Blood Cell Transfusions | 08/21/2022 | |
| The Most Expensive Drug in the US is a Rare-Disease Game Changer | 08/28/2022 | |
| FDA widens approval of Vertex’s CRISPR medicine to treat beta thalassemia | 01/17/2024 |
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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Diagnosed by the Mayo Clinic in Rochester , MN , with SCLS in August 2011. This was my second trip to Mayo. The first trip was in August 2010 and resulted in a 2 week stay and a suspected / working...
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Article on Arrivant as potential therapy for sickle cell and thalassemia in RareShare news link section.
Created by RareshareTeam | Last updated 28 Nov 2018, 04:47 AM
See RareShare's news link section for latest rare disease news, including an article on use of gene therapy to treat thalassemia.
Created by RareshareTeam | Last updated 4 Jul 2018, 08:48 PM
hasharon blood disorder
Created by susanfv | Last updated 5 Oct 2010, 02:31 AM
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