Thalassemia

Thalassemia is a group of genetic blood disorders that affect approximately 1,000 individuals in the United States. The most severe of these disorders is Cooley's Anemia.

People with thalassemia have a genetic defect of their red blood cells that affects the cells' ability to produce normal hemoglobin. Red blood cells use hemoglobin to carry oxygen to tissues. As a result of the defect, most forms of thalassemia produce a chronic, lifelong anemia that begins in early childhood and often must be treated with frequent transfusions.

What is Thalassemia?

Beta thalassemia describes a condition of the blood characterized by abnormal hemoglobin in the red blood cells. This abnormal hemoglobin is reduced in its capacity to transport oxygen around the body, which leads to anemia, fatigue, weakness and shortness of breath.

Thalassemia Genetic Prevalence

Thalassemia Prevalence

Thalassemia Pathophysiology

Thalassemia Treatment

Thalassemia Benefits

Latest Thalassemia News and Research

A path to treat currently untreatable cases of cystic fibrosis is clearly achievable, study suggests

An experimental drug reported in Nature Communications suggests that a "path is clearly achievable" to treat currently untreatable cases of cystic fibrosis disease caused by nonsense mutations.

19 Jul 2021

Study examines safety of COVID-19 vaccination during lactation

A new preprint, recently released on the medRxiv* server, reports from real life in a cohort of mother-child dyads in Singapore. The mothers were lactating after having received COVID-19 vaccination.

25 Jun 2021

UCSF launches new initiative to propel the development of living therapeutics

UC San Francisco is launching a new initiative to propel the development of living therapeutics - a category of treatments broadly defined as human and microbial living cells that are selected, modified, or engineered to treat or cure disease - and bring them quickly to patients.

14 Jun 2021

Researchers develop proof-of-concept treatment for blood disorders

Researchers at Children's Hospital of Philadelphia (CHOP) have developed a proof-of-concept treatment for blood disorders like sickle cell disease and beta-thalassemia that could raise hemoglobin levels by activating production of both fetal and adult hemoglobin.

1 Jun 2021

High-throughput system can regulate gene expression for treating sickle cell disease, beta thalassemia

St. Jude Children's Research Hospital scientists have developed an integrated, high-throughput system to better understand and possibly manipulate gene expression for treatment of disorders such as sickle cell disease and beta thalassemia. The research appears today in the journal Nature Genetics.

7 May 2021

Toward a transformative therapy for sickle cell patients

For the millions of people worldwide who have sickle cell disease, there are only a few treatment options, which include risky bone marrow transplants, gene therapy or other treatments that address a subset of symptoms.

9 Apr 2021

PNA-based gene editing technique can advance gene discovery

In an article published in the April 8 issue of Nature, the National Institutes of Health's Somatic Cell Gene Editing Consortium provided a detailed update on the progress of their nationwide effort to develop safer and more effective methods to edit the genomes of disease-relevant somatic cells and reduce the burden of disease caused by genetic changes.

8 Apr 2021

Research provides a new cornerstone of malaria's evolution with humans

New bioarchaeological research shows malaria has threatened human communities for more than 7000 years, earlier than when the onset of farming was thought to have sparked its devastating arrival.

13 Mar 2021

Combined liver-cytokine humanization enhances human red blood cell production and survival

In a new study by the Yale Department of Immunobiology and Yale Cancer Center, researchers report combined liver and growth factor humanization enhances human red blood cell production and survival in circulation the immunodeficient murine host.

5 Mar 2021

Study: TALEN is five times more efficient than CRISPR-Cas9 in tightly packed DNA

Researchers used single-molecule imaging to compare the genome-editing tools CRISPR-Cas9 and TALEN.

27 Jan 2021

New taxonomic classification of non-skeletal rare congenital disorders with impact on bone physiology

Thanks to major progress in the understanding and management of rare congenital diseases and syndromes, many patients with these rare disorders are now living longer lives.

13 Jan 2021

Researchers develop telomerase gene therapy for treating different pathologies

After several years of research and many joint scientific publications, molecular biologists Maria Blasco (National Cancer Research Centre, CNIO) and Fàtima Bosch (Universitat Autònoma de Barcelona, UAB) have developed a telomerase gene therapy for the treatment of different pathologies related to shortening telomeres and, therefore, ageing.

2 Dec 2020

Majority of U.S. COVID-19 fatalities had underlying medical conditions

Early on in the coronavirus disease (COVID-19) pandemic, there was little data on the virus and how it affects the body. As the virus spread across the globe, data showed that some people were at a higher risk of developing severe disease and dying from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection.

31 Aug 2020

Umbilical cord blood safely and effectively treats children with rare genetic disorders

Researchers at UPMC Children's Hospital of Pittsburgh found that infusing umbilical cord blood - a readily available source of stem cells - safely and effectively treated 44 children born with various non-cancerous genetic disorders, including sickle cell, thalassemia, Hunter syndrome, Krabbe disease, metachromatic leukodystrophy (MLD) and an array of immune deficiencies.

14 Jul 2020

Impact of COVID-19 on pregnancy and breastfed infants

Pregnant women are among those at high risk of developing COVID-19, as confirmed in Wuhan early in the pandemic. A new study from Portugal published on the preprint server medRxiv in May 2020 analyses the data on the impact of COVID-19 on pregnancy and disease outcomes, using published cases of pregnant women diagnosed with the illness.

4 May 2020

Rice University wins prestigious grant to develop new therapies for sickle cell disease

A Rice University lab has won a prestigious National Institutes of Health grant to pursue gene-editing research it hopes will lead to a cure for sickle cell disease (SCD).

25 Apr 2020

Ancient DNA analysis provides insight into genetic history of Sardinia

A new study of the genetic history of Sardinia, a Mediterranean island off the western coast of Italy, tells how genetic ancestry on the island was relatively stable through the end of the Bronze Age, even as mainland Europe saw new ancestries arrive.

24 Feb 2020

Horizon Discovery to offer novel base editing technology for clinical research

Horizon Discovery today announced that it will provide access to a novel base editing technology licensed from Rutgers for exclusive use in therapeutic, diagnostic and services applications.

From Horizon Discovery 14 Jan 2020

Fresh red blood cell transfusions are no more beneficial than older ones to critically ill children

A new study led by the Sainte-Justine University Hospital Centre and the University of Montreal, along with the Washington University School of Medicine in St. Louis, has found that transfusions using fresh red blood cells--cells that have spent seven days or less in storage--are no more beneficial than older red blood cells in reducing the risk of organ failure or death in critically ill children.

10 Dec 2019

Mystery surrounds gene edited babies one year on

A year back Chinese scientist He Jiankui was in the news for all the wrong reasons. He had helped create the world’s first genetically edited human babies. After a year the world is still in dark about the whereabouts and health of the babies he had created and he himself has been not seen since January this year.

27 Nov 2019