Thalassemia: Anemia and Jaundice

Anemia

• Thalassemia patients often present with severe anemia, which can be:
  • Microcytic (small red blood cells)
  • Hypochromic (pale red blood cells)
  • Normocytic (normal-sized red blood cells)
• Anemia can lead to:
  • Fatigue
  • Weakness
  • Shortness of breath
  • Pale skin
  • Headaches

Jaundice

• Jaundice is a common manifestation of thalassemia, particularly in beta-thalassemia major
• Caused by the accumulation of bilirubin in the blood due to hemolysis (red blood cell breakdown)
• Jaundice can lead to:
  • Yellow discoloration of the skin and eyes
  • Dark urine
  • Fatigue
  • Itching

Bone Deformities

• Thalassemia can cause bone deformities due to:
  • Expansion of the bone marrow to compensate for anemia
  • Increased bone resorption (breakdown)
• Bone deformities can lead to:
  • Skull deformities (e.g., frontal bossing)
  • Maxillary hypertrophy (upper jaw expansion)
  • Dental problems
  • Short stature

Cardiac Complications

• Thalassemia patients are at risk for cardiac complications due to:
  • Iron overload from frequent blood transfusions
  • Anemia-induced cardiac stress
• Cardiac complications can lead to:
  • Cardiac failure
  • Arrhythmias
  • Cardiac enlargement
  • Death

Growth Retardation

• Thalassemia can cause growth retardation due to:
  • Chronic anemia
  • Iron overload
  • Hormonal imbalances
• Growth retardation can lead to:
  • Short stature
  • Delayed puberty
  • Osteoporosis
  • Increased risk of fractures

Anemia

• Thalassemia patients often present with severe anemia, characterized by red blood cells that are microcytic, hypochromic, or normocytic
• Anemia leads to fatigue, weakness, shortness of breath, pale skin, and headaches due to decreased oxygen delivery to tissues

Jaundice

• Jaundice is a common manifestation of thalassemia, particularly in beta-thalassemia major, caused by bilirubin accumulation in the blood due to hemolysis
• Jaundice presents with yellow discoloration of the skin and eyes, dark urine, fatigue, and itching

Bone Deformities

• Bone deformities in thalassemia result from bone marrow expansion and increased bone resorption to compensate for anemia
• Deformities include skull deformities (e.g., frontal bossing), maxillary hypertrophy, dental problems, and short stature

Cardiac Complications

• Thalassemia patients are at risk for cardiac complications due to iron overload from frequent blood transfusions and anemia-induced cardiac stress
• Cardiac complications include cardiac failure, arrhythmias, cardiac enlargement, and death

Growth Retardation

• Thalassemia causes growth retardation due to chronic anemia, iron overload, and hormonal imbalances
• Growth retardation results in short stature, delayed puberty, osteoporosis, and increased risk of fractures

Clinical Manifestations of Thalassemia

Anemia

• Chronic anemia is a hallmark feature of thalassemia
• Hemoglobin levels are often severely low
• Anemia can be microcytic, hypochromic, or normocytic
• Symptoms of anemia include:
  • Fatigue
  • Weakness
  • Shortness of breath
  • Pale skin
  • Headaches

Jaundice

• Jaundice is a common manifestation of thalassemia, particularly in beta-thalassemia major
• Caused by bilirubin accumulation in the blood due to hemolysis
• Symptoms of jaundice include:
  • Yellow discoloration of the skin and eyes
  • Dark urine
  • Fatigue
  • Itching

Bone Deformities

• Bone deformities occur due to bone marrow expansion and increased bone resorption
• Deformities include:
  • Skull deformities (e.g., frontal bossing)
  • Maxillary hypertrophy (upper jaw expansion)
  • Dental problems
  • Short stature

Cardiac Complications

• Cardiac complications arise from iron overload and anemia-induced cardiac stress
• Complications include:
  • Cardiac failure
  • Arrhythmias
  • Cardiac enlargement
  • Death

Growth Retardation

• Growth retardation occurs due to chronic anemia, iron overload, and hormonal imbalances
• Symptoms include:
  • Short stature
  • Delayed puberty
  • Osteoporosis
  • Increased risk of fractures