Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The rare disease that we will be learning about today is:

Beta Thalassmia

Sometimes called microcytemia, beta type.

What is Beta Thalassemia?

• Beta thalassemia is a group of heritable disorders of the blood
• Thalassemias are characterized by reduced production of hemoglobin
  • In beta thalassemia, thalassemia occurs as a result of very low or no synthesis of hemoglobin beta chains
• The severity of the disease varies greatly and is dependent on the mutation
• Patients may develop microcytic anemia, in which the red blood cells are unusually small
• There are three different types of beta thalassemia:
  • Beta thalassemia major – This is the most severe type, and may be fatal by age 20
  • Beta thalassemia intermedia – Most patients can live a mostly normal life
  • Beta thalassemia minor – Patients may develop microcytic anemia, but treatment may not be necessary

How Do You Get It?

• Beta thalassemia occurs as a result of genetic mutations, which are categorized into two forms:
  • Deletion forms – Deletion mutations affecting the beta globin gene
  • Nondeletion forms – typically substitution or insertion mutations near the beta globin gene
• Incidence rate of the disorder is around 1 in 100,000 births
• Risk factors include family history and ancestry
  • People of African, Greek, Italian, South Asian, and Middle Eastern ancestry are more likely to develop beta thalassemia

What Are The Symptoms?

• Between the different forms of beta thalassemia, symptoms can range from practically non-existent to life threatening
• Beta thalassemia major symptoms usually appear early in life and can include:
  • Skeletal malformations
  • Severe anemia
  • Poor growth
  • Heart failure, which can lead to death
  • Fatigue
  • Developmental delays
  • Leg ulcers
  • Organ failure
  • Osteoporosis
  • Diabetes
  • Enlarged spleen/liver
• Intermedia can present with similar symptoms, but of lesser severity and generally later in life
• Many beta thalassemia minor cases cause no symptoms
• Patients that must receive regular blood transfusions may suffer from complications as a result of excessive iron, such as:
  • Heart problems
  • Liver cirrhosis/fibrosis
  • Liver cancer

How Is It Treated?

• Blood transfusions throughout life are necessary for patients with severe beta thalassemia
• Iron chelation therapy is necessary to avoid iron overload, a side effect of blood transfusion
  • Examples include deferasirox, deferoxamine, and deferiprone
• In some cases, a bone marrow transplant can be curative early in life
• Some patients may need the spleen surgically removed, but this usually isn’t needed in patients receiving proper transfusions
• Luspatercept treatment can be used in adults to reduce the transfusion burden
• Patients with intermedia may not need any blood transfusions, but others may require occasional infusions
• Beta thalassemia minor often doesn’t require treatment beyond regular monitoring. If it occurs alongside other liver conditions, it can contribute to more severe liver disease.

Where Can I Learn More???

• Learn more about this disease from the National Organization for Rare Disorders.
• Check out our cornerstone on this disease here.