14. Beta Thalassemia
Definition
Beta thalassemia is an inherited blood disease of abnormal hemoglobin production in which both beta-globin subunit components of normal hemoglobin are absent.
Incidence
The estimated incidence rates of beta thalassemia vary by population and it is more commonly found in areas around the Mediterranean Sea; in Italian, Sicilian, and Greek populations, the incidence is approximately 10%; in African populations, it is approximately 1.5%; in the African American population, the incidence is approximately 1.5%; and in Southeastern Asian populations, it is approximately 5%.
Etiology
The manufacture of beta-globin molecules has been traced to chromosome 11. More than 200 mutations of the beta-globin genes on chromosome 11 that can result in thalassemia have been documented. The result of the particular mutation is either the absence of the beta-globin, called beta(0)thalassemia, or diminished beta-globin, called beta(+) thalassemia.
Signs and Symptoms
• Abdominal swelling
• Amenorrhea
• Cardiac failure
• Cardiomegaly
• Dark urine
• Dysrhythmias
• Facial deformities
• Failure to grow/thrive
• Frontal bossing
• Gallstones
• Infection
• Irritability
• Jaundice
• Leg ulcers
• Mongoloid facies
• Pallor
• Progressive hepatosplenomegaly
• Severe anemia
• Sexual development retardation
• Skeletal deformities
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