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Stem Cell Conditions and Indications

Discover conditions and indications where stem cell therapies may be applied safely.

Understand Stem Cell Conditions treated by transplantation, including blood cancers, genetic disorders, and risk factors that determine if you are a candidate for therapy.

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Classification of Thalassemia Syndromes

Thalassemia is not a single entity but a spectrum of disorders classified by which globin chain is affected (Alpha or Beta) and the clinical severity of the condition. Understanding these distinctions is critical for determining the indication for regenerative therapies, as not all forms require aggressive intervention.

Alpha-Thalassemia

This form is caused by the deletion of one or more of the four alpha-globin genes located on chromosome 16.

  • Silent Carrier (1-gene deletion): The individual is asymptomatic with normal blood counts.
  • Alpha-Thalassemia Trait (2 gene deletions): Mild anemia with small red blood cells (microcytosis). No treatment is needed.
  • Hemoglobin H Disease (3 gene deletions): This causes moderate to severe anemia. Patients produce Hemoglobin H, which damages red cells. They may require occasional transfusions, especially during illness, and often have enlarged spleens.
  • Alpha-Thalassemia Major (4 gene deletions): Also known as Hydrops Fetalis. This is incompatible with life without intrauterine transfusion, as the fetus cannot produce any functional hemoglobin. Survivors require lifelong transfusion or transplant.

Beta-Thalassemia

This is the most common form requiring regenerative care, caused by mutations in the two beta-globin genes on chromosome 11.

  • Beta-Thalassemia Minor (Trait): One mutated gene. Asymptomatic or mild anemia.
  • Beta-Thalassemia Intermedia: A clinical term for patients who have significant anemia but can survive without regular transfusions. However, they often suffer from bone deformities, osteoporosis, and iron overload due to increased intestinal absorption. They may eventually require transfusions or a transplant as they age.
  • Beta-Thalassemia Major (Cooley’s Anemia): Both genes are severely mutated. These infants appear healthy at birth (protected by fetal hemoglobin) but develop severe anemia within the first two years of life. Without regular blood transfusions, they fail to grow and usually die in childhood. This is the primary indication for stem cell transplantation.
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Clinical Manifestations and Pathophysiology

Clinical Manifestations and Pathophysiology

The indications for treatment arise from the profound physiological insults caused by the disease.

  • Ineffective Erythropoiesis: The bone marrow is hyperactive but ineffective. It churns out billions of cells that are destroyed before they are released. This massive cellular expansion consumes the body’s energy and resources, leading to failure to thrive in children.
  • Skeletal Deformities: The expanding marrow cavity widens the bones, particularly in the skull and face, leading to “chipmunk facies” (prominent cheekbones, depressed nasal bridge) and thinning of the long bones, which become brittle and prone to pathologic fractures.
  • Extramedullary Hematopoiesis: Since the marrow cannot keep up, the liver and spleen try to produce blood. This causes massive hepatosplenomegaly (enlargement of the liver and spleen). Masses of blood-forming tissue can also grow in the chest or spinal canal, potentially compressing the spinal cord.
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Iron Overload: The Secondary Enemy

Iron Overload: The Secondary Enemy

Even with optimal transfusion therapy, patients face a secondary, life-threatening condition: iron overload (hemosiderosis).

  • Transfusional Siderosis: Each unit of transfused blood contains iron. The human body lacks a physiological mechanism for excreting excess iron.
  • Absorption: Paradoxically, the anemic body signals the gut to absorb more iron from food.
  • Toxicity: Free iron is toxic. It deposits in the heart (causing heart failure and arrhythmias), the liver (causing cirrhosis), and the endocrine glands (causing diabetes, hypothyroidism, and delayed puberty).
  • Indication Connection: The difficulty of managing iron overload over a lifetime is a major driver for choosing curative stem cell transplantation early in childhood, before permanent organ damage occurs.
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Indications for Hematopoietic Stem Cell Transplantation (HSCT)

Indications for Hematopoietic Stem Cell Transplantation (HSCT)

The decision to proceed with a regenerative cure is a risk-benefit calculation.

  • Class I (Low Risk): Young patients (<16 years), with no liver enlargement and no liver fibrosis. These patients have excellent outcomes (over 90% cure rates) and are the ideal candidates.
  • Class II (Intermediate Risk): Patients with some liver abnormalities.
  • Class III (High Risk): Older patients with liver damage and poor compliance with iron chelation. Transplant is riskier but still possible at specialized centers using modified protocols.

Generally, HSCT is indicated for:

  • Any child with Beta-Thalassemia Major who has a matched sibling donor.
  • Patients with transfusion-dependent Beta-Thalassemia Intermedia or Hemoglobin H disease.
  • Patients who are developing complications despite transfusion therapy (e.g., alloimmunization, where the body rejects transfused blood).
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Indications for Emerging Therapies

Indications for Emerging Therapies

For patients who lack a donor or are too old/frail for standard transplant, newer indications are emerging.

  • Luspatercept: A drug that promotes red cell maturation, indicated to reduce transfusion burden.
  • Gene Therapy: Indicated in clinical trials or approved settings for patients with severe disease who lack a matched sibling donor.

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Table of Contents

  • Overview and Definition
  • Symptoms and Causes
  • Diagnosis and Staging
  • Treatment Details
  • Medical Center

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FREQUENTLY ASKED QUESTIONS

What is the difference between Thalassemia Major and Intermedia?

The distinction is clinical. Thalassemia Major patients are “transfusion dependent,” meaning they cannot survive or grow without regular blood transfusions (usually every 2-4 weeks). Thalassemia Intermedia patients have significant anemia but can maintain a hemoglobin level that sustains life without regular transfusions, though they may have severe long-term complications.

Because the body is starved of oxygen, it sends signals to the bone marrow to work harder. The marrow expands massively to produce more red blood cells, physically pushing the bone cortex outward. This causes the bones, especially in the skull and face, to widen and become misshapen.

If transfusions are stopped, the hemoglobin level drops to a critical low level. The heart has to pump much faster to deliver oxygen, leading to high-output heart failure. The patient will suffer from severe fatigue, growth failure, and bone deformities, and usually will not survive childhood.

Transplants are most successful when performed early, typically between the ages of 2 and 15. In this age group, patients usually have not yet sustained significant organ damage from iron, and their bodies are resilient enough to tolerate the chemotherapy conditioning.

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