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

NGS-based screening identifies rare and novel thalassemia mutations in Ganzhou, China

Around 5.2% of the global population carries abnormal hemoglobin genes. Each year, 300,000 to 500,000 children are born with severe hemoglobinopathies worldwide, with approximately 80% of these cases occurring in developing countries.

5 Sep 2023

New gene therapy offers hope for beta thalassemia patients

UCSF Benioff Children's Hospital Oakland provides new therapy to first patient since FDA approval.

31 Aug 2023

Research breaks ground on new ways of treating blood disorders with gene therapy

Research from experts at Michigan Medicine, the Children's Hospital of Philadelphia and Penn Medicine is breaking ground on new ways of treating blood disorders, such as sickle cell anemia, through gene therapy.

9 Aug 2023

New gene editing approach could revolutionize the treatment of blood disorders

In a step forward in the development of genetic medicines, researchers at Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of Pennsylvania have developed a proof-of-concept model for delivering gene editing tools to treat blood disorders, allowing for the modification of diseased blood cells directly within the body.

27 Jul 2023

Base editing shows promise for treating sickle cell disease and beta thalassemia

Gene therapy that alters hemoglobin genes may be an answer to curing sickle cell disease (SCD) and beta thalassemia.

3 Jul 2023

Evaluating the effects of dietary trends on reproductive outcomes

Researchers evaluated the effects of dietary trends on reproductive outcomes.

2 Jun 2023

Hemex Health awarded $3 million grant to advance commercialization of Gazelle Hb Variant Test for the U.S. market

Hemex Health, a medical diagnostic device company focused on expanding healthcare access to underrepresented patient populations, announced it has been awarded a 3-year, $3 million grant from the National Heart, Lung, and Blood Institute.

29 Mar 2023

Study highlights a persistent life expectancy gap among patients living with sickle cell disease

While research has long established disparities in health outcomes among individuals living with sickle cell disease (SCD), few studies have quantified these gaps.

16 Mar 2023

BGI cares - 2022 social responsibilities in review

At BGI Genomics, we believe it is our responsibility to not only enhance global health outcomes, but also to help make the places we work and live in better.

From BGI Genomics 20 Dec 2022

Many genetic disorders respond well to specialized gene therapy

When the normal DNA sequence in an individual changes or mutates it can cause disease. The mutation may involve multiple genes and may be caused by environmental factors, or there may be chromosomal defects that are harmful at birth, in infancy or environment at a later stage.

12 Dec 2022

Protection afforded by SARS-CoV-2 infection against reinfection when Omicron BA.5 was the dominating subvariant in Scania county, Sweden

Researchers from Sweden conducted a cohort study to evaluate the protection granted by previous SARS-CoV-2 Omicron subvariant infections against reinfections among individuals vaccinated between June and August 2022.

17 Nov 2022

First transfusions of lab-grown blood

Two patients in the United Kingdom received two small doses of lab-grown blood samples as part of the RESTORE trial.

9 Nov 2022

Scientists show how cellular hypoxia response increases fetal hemoglobin expression in adults

Scientists at St. Jude Children's Research Hospital have shown how a protein responsible for adapting to low oxygen conditions (hypoxia), causes increased expression of fetal hemoglobin (HbF) in adults.

12 Oct 2022

Azerbaijan Thalassemia Center and BGI partner to improve thalassemia screening in Azerbaijan

On 6th September 2022, the Azerbaijan Thalassemia Center and BGI held a virtual signing ceremony to seal a Collaboration Agreement. The partnership aims to improve thalassemia screening in Azerbaijan through genetic technology.

16 Sep 2022

Researchers explore disease severity post-infection with SARS-CoV-2 Omicron in hematologic patients

A new study has studied the clinical outcome and spectrum in 61 patients infected with the SARS-CoV-2 Omicron variant.

29 Jun 2022

Efficacy of vaccination against SARS-CoV-2 Omicron BA.1 and BA.2 sublineages in Sweden

Researchers compared the vaccine effectiveness against infections by SARS-CoV-2 variant of concern Omicron BA.1 and BA.2 sublineages in Sweden.

22 Apr 2022

UNSW research improves fundamental understanding of the mechanism behind sickle cell disease

UNSW researchers have used CRISPR gene editing – a type of 'molecular scissors' – to understand how deletions in one area of the genome can affect the expression of nearby genes.

8 Apr 2022

Gene therapy leads to durable transfusion independence in youngest patients with thalassemia

Over 90 percent of patients with transfusion-dependent thalassemia, an inherited blood disorder, no longer needed monthly blood transfusions years after receiving gene therapy, according to an international Phase 3 clinical trial that for the first time included children younger than 12 years of age.

22 Feb 2022

Gene therapy may be a curative treatment option for patients with transfusion-dependent beta-thalassemia

A novel gene therapy promoted transfusion independence in more than 90 percent of adult and pediatric patients with transfusion-dependent beta-thalassemia, according to a recent clinical trial published in The New England Journal of Medicine.

3 Feb 2022

Hydroxyurea therapy can improve or reverse cardiac complications in sickle cell anemia patients

Heart abnormalities are common complications of sickle cell anemia (SCA) that can contribute to severe disease symptoms and even death.

16 Sep 2021

Thalassemia

Overview

Thalassemia Genetic Prevalence

Thalassemia Prevalence

Thalassemia Pathophysiology