Thalassemia: Facts you must Know

By H.E. Dr Maryam Matar, MD, PhD

Her Excellency, Dr Matar is the Founder and Chairperson, UAE Genetic Diseases Association. She is a leading healthcare influencer, and pioneered the study of genes and advocates public education and awareness of genetic disorders across the ME region. She serves as a Chairperson/senior advisor in over 15 international, regional and local committees for preventive healthcare initiatives, women in STEM, and youth leadership. Dr Mater has been recognised as the most powerful scientist in the UAE since 2014; amongst the top 20 Arab scientists with the biggest contribution to humanity by British Scientific Community 2016; amongst the “top 100 most influential Arabs in the world” recognised by Arabian Business for four consecutive years since 2013.

People with thalassemia have a genetic defect of their red blood cells that affects the cells’ ability to produce normal hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen and nutrients to cells in the body. 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.

Signs and symptoms of thalassemia

According to Mayo Clinic, signs and symptoms may include:

• Fatigue
• Weakness
• Pale or yellowish skin
• Facial bone deformities
• Slow growth
• Abdominal swelling
• Dark urine

Types of thalassemia

Several types of thalassemia exist, including alpha-thalassemia, thalassemia intermedia, and Cooley anemia. The signs and symptoms depend on the type and severity of the condition. Some babies show signs and symptoms of thalassemia at birth, while others may develop them during the first two years of life. Some people who have only one affected hemoglobin gene don’t experience any thalassemia symptoms.

Thalassemia prevention in UAE

In the last ten years, UAE has made significant progress in preventive management and reduce the prevalence of thalassemia. The mandatory premarital screening program is the most important part of national preventive campaign against thalassemia and these tests entail everyone to undergo a screening before getting married in UAE.

Prenatal screening is another key element of this successful preventive program is as prenatal diagnosis is an effective approach to identify the genetic makeup of a foetus and its chances of being a thalassemia carrier or patient.

These significant legislations were implemented in UAE in 20017 after a comprehensive research, study and proposal was submitted by UAE Genetic Diseases Association.

Stem cell therapy offers hope in the future

Worldwide scientists are working on the potential of stem cell therapy which is getting successive to treat many degenerative diseases and many clinical trial and case study are proving that that stem cell therapy is safest and non-surgical treatment, providing opportunity for a hope to the patients.

In the stem cell therapy, patients will have their blood stem cells extracted from circulating blood — a process in which the stem cells are filtered out of the patients’ blood while their other blood cells are returned to them.