What is Thalassemia?

What is Thalassemia?

Thalassemia is a genetic blood disorder that results in lower levels of hemoglobin. Since hemoglobin is responsible for red blood cells to carry oxygen, thalassemia causes anemia and fatigue.

The molecular structure of hemoglobin consists of alpha and beta chains. DNA mutations result in the reduction of either the alpha and beta chains, causing either alpha-thalassemia or beta-thalassemia.

When a child inherits one defective gene from only one parent, it causes thalassemia minor. Such individuals do not develop any symptoms and lead completely normal lives. They are just thalassemia carriers, or carriers for the thalassemia gene.

When a child inherits two defective genes, one from from each parent, it causes thalassemia major. This is characterized by chronic, lifelong anemia that requires frequent blood transfusions. Side effects include iron overload, bone deformities, liver cirrhosis and cardiovascular illness.

A rarer inherited blood condition is sickle beta thalassemia, where not only is the production of hemoglobin affected, but also the shape of the red blood cells. They form a “sickle” or crescent shape, which further damages their capacity to carry oxygen.

Symptoms of Thalassemia

Individuals with thalassemia major and other more serious forms of thalassemia will develop the following symptoms:

  • Fatigue
  • Shortness of breath
  • Heart palpitations
  • Pale skin
  • Yellowing of the skin and eyes (jaundice)
  • Delayed growth
  • Facial deformities
  • Fragile bones (osteoporosis)
  • Reduced fertility

Prevalence of Thalassemia in the UAE

According to the Ministry of Health and Prevention, statistics show that:

  • 8.5% of UAE’s population are thalassemia minor or carry the gene.
  • 1 in 12 individuals in the UAE is a carrier for the thalassemia gene.
  • The rate of occurrence of thalassemia is much higher in the Middle East compared to the USA and Europe.
  • The rate of occurrence of sickle cell anemia is slightly higher in the Middle East compared to the USA and Europe.
  • In the Middle East, rates of sickle cell anemia are highest in Saudi Arabia and the UAE.

Treatment for Thalassemia

The Thalassemia Center of the UAE is the only organization in the Arabian Gulf committed to groundbreaking genetic research and medical treatment for thalassemia. The center offers patients and their families information on thalassemia management, as well as specialized services like:

  • Chronic blood transfusion program
  • Hemoglobinopathy premarital and prenatal counseling
  • Haemoglobinopathies Post Bone Marrow Transplant Outpatient clinic
  • Transcranial Doppler service for pediatric patients with sickle cell anemia

Since thalassemia treatment requires blood transfusions throughout life, national blood banks are always under pressure to ensure enough stock for thalassemia as well as other medical treatments.

Interested in donating blood? Check out this link.

Premarital Screening of Thalassemia

In 2008, the UAE government launched a nationwide campaign to advocate premarital screening to raise awareness about the thalassemia carrier population. Since 2012, premarital screening is mandatory for couples planning to tie the knot. A single blood sample can be screened for 549 diseases, 600 genetic disorders and 4000 genetic mutations.

At-risk couples who are both carriers for the thalassemia gene receive genetic counseling. They are informed of the health concerns of having a thalassemia child, as well as prenatal, neonatal and pre-implantation diagnoses.

Information about the requirements, procedures and service locations can be found on the Ministry of Health and Prevention’s website.

The service fees for premarital screening are:

  • UAE Nationals & GCC Nationals: AED 100
  • Expatriates: AED 250

If necessary, pre-marriage vaccinations will be provided. If medical tests show that the couple are in good health, the required certificate will be issued.

Further Reading

Thalassemia | Mayo Clinic

Thalassemia carrier population continues to remain high in UAE

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