Beta Thalassemia

14. Beta Thalassemia


Beta thalassemia is an inherited blood disease of abnormal hemoglobin production in which both beta-globin subunit components of normal hemoglobin are absent.


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%.


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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Beta Thalassemia. A child with beta thalassemia major who has severe splenomegaly.

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Aug 5, 2016 | Posted by in ANESTHESIA | Comments Off on Beta Thalassemia
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