Beta Thalassemia

Published on 27/02/2015 by admin

Filed under Anesthesiology

Last modified 27/02/2015

Print this page

rate 1 star rate 2 star rate 3 star rate 4 star rate 5 star
Your rating: none, Average: 0 (0 votes)

This article have been viewed 1373 times

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
Buy Membership for Anesthesiology Category to continue reading. Learn more here