Thalassemia + Aplastic Anemia

Question 1

What is thalasemia and what are some characteristics of it?

Answer 1

• Inherited blood disorders of hemoglobin synthesis
• Classified by Hgb chain affected and by amount of effect
• Autosomal recessive with varying expressivity
  
  • Both parents must be carriers to have offspring with disease
• Italians, Greeks, Syrians- Mediterranean descent

Question 2

What is the pathophysiology behind thalassemia?

Answer 2

• Anemia results from defective synthesis of Hgb, structurally impaired RBCs, and shortened life of RBCs
• Chronic hypoxia leads to:
  
  • Headache, irritability, precordial and bone pain, exercise intolerance, anorexia, epistaxis
• Detected in infancy or toddlerhood
  
  • Pallor, FTT, hepatosplenomegaly, severe anemia (Hgb

Question 3

What are the 4 types of b-Thalassemia?

Answer 3

1. Thalassemia minor—asymptomatic silent carrier (Heterozygous forms)
2. Thalassemia trait—mild microcytic anemia
3. Thalassemia intermediate—moderate to severe anemia plus splenomegaly (more common) Homozygous or heterozygous
4. Thalassemia—major “Cooley’s anemia”—severe anemia requiring transfusions to survive (Homozygous)

Question 4

How would you diagnose thalassemia?

Answer 4

• By hemoglobin electrophoresis
• RBC changes often seen by 6 weeks of age
• Child presents with severe anemia, FTT

Question 5

What are the clinical manifestations of thalassemia?

Answer 5

• Pallor
• Unexplained fever
• Poor feeding because they are not oxygenating
• Enlarged spleen/liver (this is affected more in this disease)
• Signs of chronic hypoxia
  
  • Headache
  • Precordial and bone pain
  • Decreased exercise tolerance
  • Listlessness
  • Anorexia

Question 6

What are the manifestations of thalassemia?

Answer 6

• Small stature
• Delayed sexual maturation (very difficult for Adolescents)
• Bronzed, freckled complexion
• Bone changes if untreated
  
  • Enlarged head
  • Prominent frontal and parietal bosses
  • Prominent malar eminences
  • Flat or depressed bridge of the nose
  • Enlarged maxilla
  • Protrusion of the lip and upper central incisors
  • Generalized skeletal osteoporosis

Question 7

How would you manage patients with thalassemia?

Answer 7

• Blood transfusion to maintain normal Hgb levels
  
  • Foundation of medical management for these children
  • Can begin as early as 3 wks of age, occuring every 3 weeks
• Side effect—hemosiderosis
  
  • Treat with iron-chelating drugs such as deferoxamine (Desferal)
    
    • Binds excess iron for excretion by kidney

Question 8

What would you look out for in a patient with thalassemia as a nurse?

Answer 8

• Observe for complications of transfusion
• Emotional support to family
• Encourage genetic counseling
• Parent and patient teaching for self-care

Question 9

What is the prognosis for a child with thalassemia?

Answer 9

• Retarded growth
• Delayed or absent secondary sex characteristics
• Expect to live well into adulthood with proper clinical management
• Bone marrow transplant is potential cure

Question 10

What is aplastic anemia and what causes it?

Answer 10

• All formed elements of the blood are simultaneously depressed: “pancytopenia”
• Hypoplastic anemia: profound depression of RBCs but normal WBCs and platelets
• Insidious onset – develops so slowly that it isn’t apparent when it is fully established