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THALASSEMIA

THALASSEMIA. autosomal recessive blood disease . the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. Reduced synthesis of one of the globin chains can cause the formation of abnormal hemoglobin molecules, thus causing anemia, .

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THALASSEMIA

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  1. THALASSEMIA • autosomal recessive blood disease. • the genetic defect results in reduced rate of synthesis of one of the globin chains that make up hemoglobin. • Reduced synthesis of one of the globin chains can cause the formation of abnormal hemoglobin molecules, thus causing anemia,

  2. Overview Hemoglobin • oxygen-carrying component of the red blood cells • consists of two different proteins • alpha • beta.

  3. Alpha Thalassemia • Four genes (two from each parent) are needed to make enough alpha globin protein chains. • commonly found in Africa, the Middle East, India, Southeast Asia, southern China, and occasionally the Mediterranean region. • types • Silent Carrier State. • Alpha Thalassemia Trait or Mild Alpha Thalassemia. • Hemoglobin H Disease. • Hemoglobin H-Constant Spring. • HydropsFetalis or Alpha ThalassemiaMajor Cooley's Anemia Foundation, Inc. 

  4. PATHOGENESIS OF Alpha THALASSEMIA • relatively fewer α-globin • an excess of β- and γ-globin chains. • These excess chains form • Bart's hemoglobin (γ4) in fetal life • Hb H (β4) after birth. • Prenatally, a fetus with α-thalassemia may become symptomatic because Hb F requires sufficient α-globin gene production, • whereas postnatally, infants with β-thalassemia become symptomatic because Hb A requires adequate production of β-globin genes.

  5. Inheritance Pattern for Alpha Thalassemia

  6. Beta Thalassemias • People whose hemoglobin does not produce enough beta protein • It is found in people of Mediterranean descent, such as Italians and Greeks, Arabian Peninsula, Iran, Africa, Southeast Asia and southern China.

  7. Pathogenesis of Beta Thalassemia • Inadequate β-globin gene production • leading to decreased levels of normal hemoglobin (HbA) • imbalance in α- and β-globin chain production.

  8. Types of Beta Thalassemia

  9. Inheritance Pattern for Beta Thalassemia

  10. CLINICAL MANIFESTATIONS • If not treated, children usually become symptomatic as a result of progressive hemolytic anemia, • with profound weakness and cardiac decompensation during the 2nd 6 mo of life. • Most infants and children have cardiac decompensation when the hemoglobin is 4.0 g/dL or less.

  11. Summary

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