Achlorhydria • Lack of hydrochloric acid in the gastric contents
Intramedullary hemolysis • Premature hemolysis of red cell precursors in the bone marrow
Myelin • Fatty substance around a nerve
Paranoia • Mental conditions characterized by systematic delusions
Spasticity • Involuntary muscular contractions Paresthesias • Abnormal tingling or prickling sensation
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Normochromic Anemias: Biochemical and Membrane Disorders and Miscellaneous Red Cell Disorders
The Role of the Spleen in Red Cell Membrane Disorders
Spherocytosis Clinical Presentation in Hereditary Spherocytosis Laboratory Diagnosis of Hereditary Spherocytosis Treatment and Management of Hereditary Spherocytosis
Common Hereditary Elliptocytosis Southeast Asian Ovalocytosis Spherocytic Hereditary Elliptocytosis Hereditary Pyropoikilocytosis
Hereditary Stomatocytosis and Hereditary Xerocytosis
Glucose-6-Phosphate Dehydrogenase Deficiency
The Genetics of Glucose-6-Phosphate Dehydroge-nase Deficiency
Clinical Manifestations of Glucose-6-Phosphate Dehydrogenase Deficiency
Diagnosis of Glucose-6-Phosphate Dehydrogenase Deficiency
Pyruvate Kinase Deficiency
Miscellaneous Red Cell Disorders
Aplastic Anemia Fanconi's Anemia Diamond-Blackfan Anemia Paroxysmal Nocturnal Hemoglobinuria Cold Agglutinin Syndrome Paroxysmal Cold Hemoglobinuria
After completing this chapter, the student will be able to:
1. Review the functions of the spleen as they relate to red cell membrane integrity.
2. Identify the red cell membrane defect in hereditary spherocytosis.
3. Describe the clinical findings and laboratory data in patients with hereditary spherocytosis.
4. Describe the relevant red cell morphology in patients with hereditary spherocytosis.
5. Describe the osmotic fragility test and its clinical usefulness.
6. Identify the red cell membrane defects in hereditary stomatocytosis, hereditary elliptocy-tosis, and hereditary pyropoikilocytosis.
7. Compare and contrast the clinical and peripheral smear findings from hereditary stomacyto-sis, hereditary elliptocytosis, and hereditary pyropoikilocytosis.
8. Define the pathophysiology of the red cell biochemical disorders.
9. Describe the mutations and ethnic distinctions in glucose-6-phosphate dehydrogenase deficiency.
10. Describe Heinz bodies with respect to their appearance in supravital and Wright stain.
11. Define the defect in the rare membrane disorders of hereditary xerocytosis and Southeast Asian ovalocytosis.
12. Discuss the characteristics of aplastic anemia, paroxysmal nocturnal hemoglobinuria, paroxysmal cold hemoglobinuria, Fanconi's anemia, and Diamond-Blackfan syndrome.
98 Part II • Red Cell Disorders
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