THALASSEMIA

by Eléonore, Léonie and Valentine

what's thalassemia

thalassemia infographic

THALASSEMIA: an inherited blood disorder that causes your body to have less hemoglobin than normal.

alpha

diagnosis

causes

exeprience

beta

symptoms

treatments

prevention

recap

Hemoglobin consists of two alpha and two beta globin chains, controlled by genes inherited from your parents.

• Alpha globin: Four genes (two from each parent).
• Beta globin: Two genes (one from each parent).

Thalassemia type and severity depend on which genes are defective and how many are affected.

here a short video to show the experience of being diagnosed with thalassemia: (we have a problem and we can't upload the video, please copy and paste the link in your search bar) https://mail.google.com/mail/u/1?ui=2&ik=5c40cdbff7&attid=0.1&permmsgid=msg-f:1817059513510251849&th=19377e001685cd49&view=att&zw&disp=safe

How is Thalassemia Treated?

• Blood Transfusions: Restore healthy red blood cells; needed every 2–4 weeks for severe cases.
• Iron Chelation Therapy: Removes excess iron from frequent transfusions.
• Folic Acid: Supports red blood cell production.
• Bone Marrow/Stem Cell Transplant: A potential cure using compatible donor cells.
• Luspatercept: Increases red blood cell production for transfusion-dependent beta thalassemia.

These treatments manage symptoms, with transplants offering a chance for a cure. 4o

Alpha thalassemia is a genetic condition affecting alpha globin, essential for hemoglobin. You inherit four alpha globin genes (two from each parent), and the severity depends on how many are defective or missing:

• Minima: One defective gene; no symptoms.
• Minor: Two defective genes; mild symptoms.
• Hemoglobin H Disease: Three defective genes; moderate to severe symptoms like anemia and organ enlargement.
• Hydrops Fetalis: All four genes missing; usually fatal before or shortly after birth, requiring lifelong care if survival occurs.

Beta thalassemia is inherited through two beta-globin genes, one from each parent.

• Beta Thalassemia Minor: One defective gene causes mild symptoms.
• Thalassemia Intermedia: Two defective genes lead to moderate symptoms.
• Beta Thalassemia Major (Cooley's Anemia): Both genes defective, causing severe symptoms requiring intensive treatment.

How is thalassemia diagnosed? Thalassemia is often diagnosed in childhood as symptoms appear early. Common tests include:

• Complete Blood Count : Measures hemoglobin and red blood cell size/quantity.
• Reticulocyte Count: Checks young red blood cells, indicating bone marrow activity.
• Iron Studies: Distinguishes between iron deficiency anemia and thalassemia.
• Genetic Testing: Detects alpha globin gene mutations for alpha thalassemia.

The severity of symptoms depends on the specific genes involved and how many are affected. Here's an overview of the symptoms based on the severity of the condition:

• Asymptomatic: Missing one alpha or one beta gene usually results in no symptoms.
• Mild to Moderate: Includes fatigue, growth delays, bone issues, and spleen enlargement.
• Severe: In more severe forms, such as Hemoglobin H disease or beta thalassemia major, symptoms like severe anemia, jaundice, poor appetite, and bone deformities can occur, requiring intensive treatment.

Can thalassemia be prevented? Thalassemia cannot be prevented, but genetic testing can determine if you or your partner are carriers of the gene. This information can help you make informed decisions when planning a pregnancy. If you think you or your partner may carry a thalassemia gene mutation, it's a good idea to consult with a genetic counselor. They can offer valuable guidance on family planning and help you understand your options.

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