Page 329 - Clinical Hematology_ Theory _ Procedures ( PDFDrive )

17 Hemoglobinopathies and T alassemias

CHAPTER

KEY TERMS

carrier sickle cell disease vasoocclusion

hem oglobinopathies thalassem ias
hereditary trait

LEARNING OUTCOMES

Hemoglobin defects ■ Brie y describe the value of the techniques of hemoglobin electro-

■ Describe the common denominator in hemoglobinopathies. phoresis and deoxyribonucleic acid (DNA) analysis.

■ Name the three major categories of classi cation of hemoglobin ■ Explain the process of prenatal diagnosis of SCD.

defects. ■ Delineate the general management of SCD.

■ List the components and percentage of normal adult hemoglobin. Sickle cell syndromes

■ Compare the disease state and trait condition of a hemoglobinopathy.
■ Describe the conditions of sickle β thalassemia, sickle-C (SC), and
Sickle cell disease sickle cell trait.

■ Describe the etiology of sickle cell disease (SCD). Thalassemia
■ Explain the epidemiology of SCD.
■ Compare the conditions of α and β thalassemias.
Analyze the structure of the hemoglobin molecule in SCD and relate

it to the pathophysiology of the disease. ■ Outline the laboratory ndings in thalassemia.

■ Describe the clinical signs and symptoms of SCD. Other hemoglobinopathies
■ Brie y explain the symptoms of SCD in children. Compare the prevalence of hemoglobins C, SC, D, E, and H.

■ Describe the symptoms of SCD associated with pregnancy.
■ Describe the general characteristics of hemoglobin (Hb) C disease,
■ Discuss the clinical manifestations of SCD in adults. Hb SC disease, Hb D disease, Hb E disease, Hb H disease, methe-

■ Characterize the general signs and symptoms in the categories of moglobinemia, and unstable hemoglobins.
pain, pulmonary complications, and stroke associated with SCD. ■ Describe the persistence of fetal hemoglobin.

■ Identify globin chain defects causing SCD, hemoglobin C disease,
and hemoglobin E disease. Case studies

■ Outline laboratory ndings that are typical of SCD. ■ Analyze the patient history, clinical signs and symptoms, and labo-
Explain the mechanism of traditional and novel pharmaceutical ratory data for the stated case studies, answer the related critical

therapies for SCD. thinking questions, and conclude the most likely diagnosis.

■ Recognize and identify major clinical signs and symptoms and

abnormal laboratory tests results including peripheral blood smear

picture that are typically associated with homo and hetero condi- NOTE:

tions of HgS, HbC, HbD, and HbE and compound heterozygous condi- ■ indicates MLT and MLS core content

tions involving HbS and other variant hemoglobins. indicates MLT (optional) and MLS advanced content

I m m m , m - m m

( C ). U m , m m . T

m ( m A) (F . . ) q m k

m m m m

m . T - hemoglobinopathies

z . N m m .

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