Thalassemia

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Thalassemia

Thalassemia is a genetic blood disorder that affects the body’s ability to produce healthy Thalassemia is a genetic blood disorder that affects the body’s ability to produce healthy hemoglobin—the protein in red blood cells that carries oxygen to every part of the body. This condition is inherited, meaning it’s passed down through families when at least one parent carries the gene.

Living with Thalassemia often means living with anemia, which can range from mild to severe depending on the type and severity of the disorder. For many people, managing this condition is a lifelong journey that requires regular medical care and frequent blood transfusions.

At Sundas Foundation, we are deeply committed to supporting patients living with Thalassemia. We work tirelessly to raise awareness, provide life-saving blood transfusions, and deliver effective treatments to those who need them most. Through our efforts, we aim to not only ease their struggles but also bring hope and positivity to their lives.

Types of thalassemia

There are two main types of thalassemia: alpha-thalassemia and beta-thalassemia, which are further classified into subtypes based on the severity of the disease:

  • Alpha-thalassemia: Includes silent carrier, alpha-thalassemia trait, hemoglobin H disease, and hydrops fetalis.
  • Beta-thalassemia: Includes beta-thalassemia minor, intermedia, and major (also known as Cooley's anemia).

Alpha vs. Beta Thalassemia

Alpha vs. beta-thalassemia has the following differences between them:

Aspect Alpha Thalassemia Beta Thalassemia
Cause Problems with one or more of the four genes that make alpha-globin Problems with one or both genes that make beta-globin
Severity Ranges from mild (silent carrier) to fatal (hydrops fetalis) Ranges from mild (minor) to severe (major)
Symptoms Fatigue, anemia, enlarged spleen, and bone deformities in severe cases Severe anemia, jaundice, bone deformities, and growth delays in major cases
Treatment
  1. Blood transfusions
  2. Iron chelation
  3. Supportive care
  1. Blood transfusions
  2. Iron chelation
  3. Bone marrow transplant in severe cases

Signs & Symptoms

The signs and symptoms for thalassemia vary from patient to patient. Some babies start showing symptoms of thalassemia after childbirth while others develop the disease in the first 2-3 years.

Some common symptoms noticed among thalassemia patients are:

  • Fatigue and weakness
  • Pale or yellowish skin
  • Shortness of breath
  • Slow growth and delayed development
  • Bone deformities, particularly in the face
  • Enlarged spleen or liver
  • Dark urine

Thalassemia Causes

Thalassemia is caused by inherited mutations in the hemoglobin-producing genes. It is passed from parents to children in an autosomal recessive manner, meaning both parents must carry the gene for the child to inherit the condition.

Hemoglobin is made up of two types of protein chains: alpha and beta. Mutations in the genes responsible for these chains lead to two main types of thalassemia: alpha-thalassemia and beta-thalassemia. The reduction in either alpha or beta chains disrupts the balance of hemoglobin production, leading to anemia and other complications associated with thalassemia.

Diagnosis

Many children start showing symptoms in the early ages. If a child shows any of the symptoms discussed above, it is crucial to consult a doctor and get the following tests done as early as possible:

  • Complete blood count (CBC): To identify anemia and abnormalities in red blood cells.
  • Hemoglobin electrophoresis: To detect abnormal hemoglobin.
  • DNA testing To confirm genetic mutations causing thalassemia.

Thalassemia Treatment

Mild forms of thalassemia trait don't need treatment. For moderate to severe thalassemia, treatments might include:

  • Frequent Blood Transfusions: Severe forms of thalassemia often require regular blood transfusions, sometimes as frequently as every few weeks. However, repeated transfusions can lead to iron buildup in the body, potentially damaging vital organs such as the heart and liver.
  • Chelation Therapy: This treatment helps remove excess iron from the blood caused by frequent transfusions or naturally occurring iron buildup. Medications used for chelation include:
    • Deferasirox (Exjade, Jadenu) and Deferiprone (Ferriprox): These are oral medications that help reduce iron levels.
    • Deferoxamine (Desferal): Administered via injection, this drug is another option for managing iron overload.
  • Stem Cell Transplant: Also known as a bone marrow transplant, this treatment may be a viable option, especially for children with severe thalassemia. A successful stem cell transplant from a compatible donor (often a sibling) can eliminate the need for lifelong blood transfusions and iron control medications. This procedure involves replacing the defective stem cells with healthy ones to restore normal blood production.

Sundas Foundation is the epitome of thalassemia treatment and diagnosis in Pakistan. We are dedicated to providing the best healthcare to those affected, no matter the challenges.

Possible Complications

Sundas Foundation provides the best thalassemia treatment for those in need in Pakistan. But complications are a part of any recovery journey. If not managed properly, thalassemia can lead to complications such as:

  • Iron overload, affecting the heart, liver, and endocrine glands.
  • Growth and developmental delays in children.
  • Increased risk of infections due to spleen dysfunction.
  • Bone deformities and fractures.
  • Osteoporosis, thrombophilia and pseudoxanthoma elasticum.
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