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

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

Pioneering CRISPR therapy leaves two patients free of blood disease symptoms

The first two clinical trials for CRISPR-based treatments for inherited blood disorders have been successful.

20 Nov 2019

Deterministic mechanoporation of cells en masse to cure cancer

What if you could cure cancer by re-engineering patients' cells to better target and destroy their own tumors? With the advent of powerful new cellular engineering technologies, this is no longer the stuff of science fiction.

13 Nov 2019

Carnegie Mellon and Yale win NIH grant to advance gene editing technique

A research team from Carnegie Mellon University and Yale University will advance their innovative, synthetic nucleic acid-based gene editing technique under a new grant from the National Institutes of Health's Somatic Cell Genome Editing Program.

7 Oct 2019

Researchers make breakthrough in gene therapy for sickle cell disease

Researchers at the National Institutes of Health have developed a new and improved viral vector--a virus-based vehicle that delivers therapeutic genes--for use in gene therapy for sickle cell disease.

2 Oct 2019

Genetic engineering could open possibilities for patients with Parkinson’s disease

People with Parkinson’s disease experience loss of dopamine-producing brain cells, leading to tremors, rigidity, bradykinesia, and postural instability, the primary symptoms of the disease.

11 Sep 2019

First ever American gene-editing treatment using CRISPR for genetic disease

In a pathbreaking experiment, a 34-year-old mother of four from Mississippi is in the limelight for volunteering to be the subject of CRISPR-mediated gene editing in the hope of achieving a cure for the painful sickle cell anemia with which she has suffered all her life.

30 Jul 2019

Better education and communication critical for increasing blood donation among minorities

Better community education and communication are critical for increasing levels of blood donation among minorities, according to a study by researchers at Georgia State University and Georgia Southern University.

14 Jun 2019

More screening and new treatments needed for sickle cell disease

The promise of new treatments for sickle cell disease, a group of inherited red blood cell disorders, has never been so great, but it will only be realized if there is constant investment in health policies such as programs for screening newborns, especially in sub-Saharan Africa, where most cases occur.

13 Jun 2019

Scientists use gold nanoparticles to edit genes tied to HIV, inherited blood disorders

Scientists at Fred Hutchinson Cancer Research Center took a step toward making gene therapy more practical by simplifying the way gene-editing instructions are delivered to cells.

28 May 2019

Study compares effectiveness and cost of gene therapy and HSCT in major beta-thalassemia

Gene therapy offers the promise of a cure for beta-thalassemia and a new study has shown that it is associated with fewer complications and hospital admissions over 2 years than treatment by allogeneic hematopoietic stem cell transplantation

18 Apr 2019