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

Breakthrough in CRISPR delivery promises safer gene editing

Recent research in PNAS highlights advancements in non-viral, cell-specific delivery methods for CRISPR-Cas systems, emphasizing their potential to enhance research and gene therapy applications by minimizing risks associated with off-target effects and improving targeted delivery.

7 Mar 2024

Iron dysregulation identified as potential trigger for long COVID

Problems with iron levels in the blood and the body's ability to regulate this important nutrient as a result of SARS-CoV-2 infection could be a key trigger for long COVID, new research has discovered.

4 Mar 2024

Breakthrough gene-editing therapy transforms lives of patients with a hereditary disorder

A group of patients with a hereditary disorder have had their lives transformed by a single treatment of a breakthrough gene-editing therapy, according to the lead researcher.

2 Feb 2024

Study: Two-thirds of babies with sickle cell disease are born to mothers living in disadvantaged areas

As if starting life with a potentially disabling genetic blood disease wasn't enough, a study shows that almost two-thirds of babies born with sickle cell disease are born to mothers who live in disadvantaged areas.

4 Jan 2024

Fetal hormone GDF15 linked to nausea and vomiting in pregnancy

Study finds that high levels of the fetal hormone GDF15 in mothers are linked to an increased risk of nausea, vomiting, and hyperemesis gravidarum in pregnancy, offering new insights into the condition's etiology.

14 Dec 2023

Shining a light on thalassemia: Global report unveils knowledge gaps and opportunities

Thalassemia, a hereditary hemoglobinopathy, occurs in 4.4 out of every 10,000 live births and is prevalent in Mediterranean coastal areas, Africa, the Middle East, Southeast Asia, and southern China.

4 Dec 2023

New CRISPR approach shows promise for treating glioblastoma

The gene-editing technology CRISPR shows early promise as a therapeutic strategy for the aggressive and difficult-to-treat brain cancer known as primary glioblastoma, according to findings of a new study from Gladstone Institutes.

27 Nov 2023

BGI Genomics report uncovers knowledge gaps and barriers to thalassemia screening

According to Thailand's Ministry of Public Health, approximately 18-24 million or 30-40 percent of the Thai population carries the thalassemia gene, with moderately severe thalassemia patients requiring regular treatment, including blood transfusion and chelation therapy to remove excess iron from the blood.

20 Nov 2023

New report highlights urgent need to improve thalassemia awareness among Azerbaijan women

5.2% of the global population carry hemoglobin abnormalities, resulting in 300,000 to 400,000 children born with severe hemoglobinopathies annually.

17 Nov 2023

Gene therapy's double-edged sword: Breakthrough treatments face manufacturing and efficacy

Research explores the advancements, challenges, and economic implications of gene therapy for various diseases, including inherited blood disorders, malignancies treated with CAR-T cells, and diseases targeted by in vivo AAV vectors. The review highlights the transformative potential of gene therapies while acknowledging the complexities in manufacturing, safety, efficacy, and long-term durability.

12 Nov 2023

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

Thalassemia

Overview

Thalassemia Genetic Prevalence

Thalassemia Prevalence

Thalassemia Pathophysiology

Feature Articles

Thalassemia Treatment

Thalassemia Benefits

Latest Thalassemia News and Research

Breakthrough in CRISPR delivery promises safer gene editing

Iron dysregulation identified as potential trigger for long COVID

Breakthrough gene-editing therapy transforms lives of patients with a hereditary disorder

Study: Two-thirds of babies with sickle cell disease are born to mothers living in disadvantaged areas

Fetal hormone GDF15 linked to nausea and vomiting in pregnancy

Shining a light on thalassemia: Global report unveils knowledge gaps and opportunities

New CRISPR approach shows promise for treating glioblastoma

BGI Genomics report uncovers knowledge gaps and barriers to thalassemia screening

New report highlights urgent need to improve thalassemia awareness among Azerbaijan women

Gene therapy's double-edged sword: Breakthrough treatments face manufacturing and efficacy

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

New gene therapy offers hope for beta thalassemia patients

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

New gene editing approach could revolutionize the treatment of blood disorders

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

Evaluating the effects of dietary trends on reproductive outcomes

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

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

BGI cares - 2022 social responsibilities in review

Many genetic disorders respond well to specialized gene therapy

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

Thalassemia

Overview

Feature Articles

Thalassemia Treatment

Thalassemia Benefits

Latest Thalassemia News and Research

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

From Puberty to Menopause: Clue’s CEO, Audrey Tsang on the Power of Femtech

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