The Microcytic Anemias

Betty Ciesla

Iron Intake and Iron Absorption Iron Storage and Recycled Iron

Iron Deficiency Anemia

Pathophysiology and Symptoms Tests Used to Diagnose Iron Deficiency Causes of Iron Deficiency Treatment for Iron Deficiency

Anemia of Chronic Disease and Inflammation: Pathophysiology, Diagnosis, and Treatment

Anemias Related to Iron Overload Conditions, the Sideroblastic Anemias

Hereditary Hemochromatosis

The Thalassemia Syndromes

Brief History and Demographics The Pathophysiology of the Thalassemias The Alpha Thalassemias Beta Thalassemia Major: Cooley's Anemia, Mediterranean Fever

Thalassemia Intermedia and Beta Thalassemia Trait

Objectives

After completing this chapter, the student will be able to:

1. Describe the red blood cell indices related to the microcytic anemias.

2. List the microcytic anemias considered in a differential diagnosis of microcytic processes.

3. Describe iron transport from ingestion to incorporation in hemoglobin.

4. List the three stages of iron deficiency.

5. Describe the physical symptoms of an individual with iron deficiency anemia.

6. Identify the iron needs of children and adults.

7. Identify the laboratory tests for an individual with iron deficiency anemia.

8. Describe the iron overload conditions.

9. Define the pathophysiology of hereditary hemochromatosis.

10. Outline the symptoms of individuals with hereditary hemochromatosis.

11. Describe the diagnosis and clinical management of individuals with hereditary hemochromatosis.

12. Describe the basic pathophysiological defect in the thalassemia syndromes.

13. Describe the alpha thalassemic conditions with regard to gene deletions and clinical symptoms.

14. List the three types of beta thalassemia.

15. Discuss the clinical manifestations of the beta thalassemias with regard to bone marrow changes, splenic changes, skeletal changes, and hematolog-ical changes.

16. Correlate the morphological changes in the red cell with the defect in the alpha and beta tha-lassemias.

17. Describe the major hemoglobin in each of the thalassemic states.

18. Describe the transfusion protocols of thalassemia major patients and their contraindications.

66 Part II • Red Cell Disorders

Anemia is a significant health issue in the world population, affecting every ethnic class and social strata. The clinical laboratory plays a decisive role in supplying the physician with clinical data in defining the cause and determining the treatment of this condition. Broadly defined, when red cells are no longer able to supply oxygen to the body's tissues, the individual becomes anemic. Anemias may be classified according to their physiology or their morphology. The morphological classification is based on red blood cell indices, while the physiological classification is determined based on symptoms and bone marrow response. This chapter will stress the morphological classification of anemias. Normal red cell indices are MCV of 80 to 100 fL, MCH of 27 to 31 pg, and MCHC of 32% to 36%. If a micro-cytic process is present, then hemoglobin synthesis is disrupted and the MCV is less than 80 fL and the MCHC is less than 32%. The red cells are termed microcytic, hypochromic and appear as small red cells, deficient in hemoglobin. The laboratorian can be instrumental in helping the physician to recognize that a microcytic anemic process is occurring, determine the cause, and decide on a management or therapeutic plan. The microcytic anemias are iron deficiency anemia (IDA), sideroblastic anemias (acquired and inherited), the thalassemias, and a percentage of anemia of inflammation that transcend into IDA.

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