Thalassemia

The cover of 'Rare Disease Series #3 THALASSEMIA'

About Thalassemia

Two Alpha thalassemia related genes, HBA1 and HBA2 are located on chromosome 16 and one Beta thalassemia related gene, HBB is located on chromosome 11.
Thalassemia is a rare genetic disorder that reduces the production of hemoglobin, leading to anemia.

There are two types of thalassemia:

  • Alpha thalasseimia
  • Beta thalassemia

Prevalence

Map showing the different prevalence of each thalassemia according to regions and different ethnic groups.

Prevalence

Thalassemia affects approximately 1 in 2,500. The prevalence of each type of thalassemia also varies depending on ethnicity.

Alpha thalassemia is particularly common among populations of Southeast Asian descent. There are also a high number of carriers in Sub-Saharan Africa and Western Pacific regions.

Beta thalassemia is most common among populations of Mediterranean, African and/or South Asian ancestry.

Onset

Symptoms are usually present from 6 months onward in most infants with beta thalassemia and some types of alpha thalassemia.

Symptoms

Seven symptoms of Thalassemia: headache, delayed growth and development, pale or yellowish skin, dark urine, facial bone deformities, susceptibility to infections, and fatigue.

Inheritance Pattern of Alpha Thalassemia

Because of the complex inheritance pattern, the severity of symptoms also differs according to the four possible combinations of mutations in gene HBA1 and HBA2.
Alpha thalassemia’s inheritance pattern is complex. The severity varies on the number of mutated genes.

Inheritance Pattern of Beta Thalassemia

A family tree showing the autosomal recessive inheritance pattern of Beta thalassemia
Beta thalassemia is usually inherited in an autosomal recessive pattern.

In this pattern, people with one mutation usually do not show symptoms, but are susceptible to mild anemia.

Treatments

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  2. Blood transfusions
    When the thalassemia is severe, blood transfusion for normal oxygen delivery is required.
    Iron chelation therapy
    This therapy removes the remaining iron from the blood. Removing irons can save from damaging important organs such as the heart and liver.
    Bone marrow(stem cell) transplant
    Especially for young patients with severe thalassemia, bone marrow transplant can be effective. Stem cells from received bone marrow can produce normal blood cells that can save patients from lifelong blood transfusions and therapies.

Living with Thalassemia

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  2. Avoid Iron-rich Foods
    If you have high iron levels in your blood, keep away foods with excessive irons to avoid damaging your organs.
    Eat Healthy
    Try to get enough vitamin D and calcium to keep your bones healthy. Having a supplement that contains B vitamins could help protect and produce red blood cells.
    Avoid Risky Factors; Get Vaccinated Regularly
    People with thalassemia are at high risk of infections. Washing hands and getting regular vaccinations is of large benefit to patients.