Clinical Hematology II: Sickle Cell Anemia

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Which of these options are correct regarding the electrophoresis results for a patient with Sickle Cell Disease (SCD)? (Select all that apply)

Hb-A is present at >80%
Hb-A2 and Hb-F are present in lower percentages
Hb-S is present in >80% (correct)
Hb-A is absent (correct)

High Performance Liquid Chromatography (HPLC) is a method used to measure the levels of various hemoglobin types in a sample.

True (A)

What is the primary function of drugs used in the therapeutic treatment of Sickle Cell Disease?

To reduce the effects of Hb-S or increase the production of Hb-F.

In electrophoresis of a patient with Sickle Cell Trait (Hb AS), Hb-A is present at approximately % whereas Hb-S is present at around %.

60, 40 Signup and view all the answers

Match the following terms with their accurate descriptions:

Hb-S = The dominant hemoglobin type found in individuals with sickle cell disease Hb-A = The normal adult hemoglobin Hb-F = Fetal hemoglobin Hb-A2 = A minor adult hemoglobin type Signup and view all the answers

What is the typical range for the Hemoglobin (Hb) level in a patient with Sickle Cell Anemia (SCA) as indicated by a Complete Blood Count (CBC)?

6 - 9 g/dl (B) Signup and view all the answers

The presence of nucleated red blood cells in a blood film analysis is a common finding in patients with Sickle Cell Anemia.

True (A) Signup and view all the answers

What is the primary genetic abnormality responsible for sickle cell anemia?

Substitution of Glutamic acid by Valine at the 6th position in the beta-chain (C) Signup and view all the answers

What is the primary function of a Sickling test?

The Sickling test is used to identify the presence of sickle hemoglobin by observing the characteristic sickle shape of red blood cells when oxygen is removed from the blood. Signup and view all the answers

Sickle cell trait individuals are homozygous for the HbS gene.

False (B) Signup and view all the answers

In a solubility test for Hb S, the ______ of Hb S in its reduced form leads to the formation of crystals, resulting in a turbid solution.

insolubility Signup and view all the answers

Match the following laboratory tests with their corresponding descriptions.

CBC = A complete blood count, a standard blood test that evaluates various blood components, including red blood cells. Blood film = A microscopic examination of a blood smear to assess the morphology of blood cells. Sickling test = A test that identifies the presence of sickle hemoglobin by observing the characteristic sickle shape of red blood cells when oxygen is removed from the blood. Solubility test = A test that detects the presence of Hb S by observing the formation of crystals in a solution containing Hb S in its reduced form. Hb Electrophoresis = A technique used to separate different hemoglobin types based on their charge and size. Signup and view all the answers

What is the name given to the rigid, sickle-shaped red blood cells in sickle cell anemia?

Drepanocytes Signup and view all the answers

Sickle cell anemia is an ______ recessive inherited disorder.

autosomal Signup and view all the answers

Which of these is NOT a clinical consequence of sickle cell anemia?

Increased oxygen carrying capacity of red blood cells (C) Signup and view all the answers

Sickle cell anemia is caused by a single nucleotide polymorphism (SNP) in the beta-globin gene.

True (A) Signup and view all the answers

Match the following terms with their corresponding descriptions:

Sickle cell trait = Heterozygous HbAS genotype Sickle cell anemia = Homozygous HbSS genotype Drepanocytes = Sickle-shaped red blood cells HbS Polymerization = Formation of long fibers of double cross-linked strands of HbS Microcirculation blockage = Sickle cells obstructing small blood vessels Signup and view all the answers

Which of the following is NOT a clinical feature of Sickle Cell Anemia (SCA)?

Hypertension (B) Signup and view all the answers

Hand-foot syndrome is often the first presentation of sickle cell disease.

True (A) Signup and view all the answers

What is the primary cause of painful vaso-occlusive crises in sickle cell anemia?

Sickle cells getting stuck in small blood vessels, leading to tissue damage and organ infarction. Signup and view all the answers

A sudden fall in hemoglobin and reticulocytes due to marrow aplasia is characteristic of a ______ crisis.

aplastic Signup and view all the answers

Match the following clinical features of sickle cell anemia with their descriptions:

Painful vascular crises = Caused by sickling within organs Visceral sequestration crises = Usually associated with severe pain, caused by sickle cells in small vessels, resulting in tissue damage Aplastic crises = Occurs as a result of infection with parvovirus or folate deficiency. Hemolytic crises = Increased rate of hemolysis with fall in Hb and rise in retics. Signup and view all the answers

What is the most common cause of death after puberty in sickle cell anemia?

Acute sickle chest syndrome (A) Signup and view all the answers

Splenic sequestration crises are more common in adults than infants.

False (B) Signup and view all the answers

Why is splenomegaly common in infancy and early childhood, but the spleen often shrinks later in life for sickle cell patients?

The spleen can become enlarged due to the sickle cells blocking the vessels, but repeated infarctions lead to its atrophy over time. Signup and view all the answers

What is the primary purpose of hydroxyurea in relation to sickle cell disease?

To increase gamma globin chain synthesis (B) Signup and view all the answers

Sickle cell trait is a serious condition that leads to severe anemia.

False (B) Signup and view all the answers

List two symptoms commonly associated with hematuria in sickle cell disease.

Minor renal infarction and pain. Signup and view all the answers

Sickle cell trait typically shows % Hb-A and % Hb-S in electrophoresis results.

60, 40 Signup and view all the answers

Which procedure is most commonly used for prenatal diagnosis at 10–12 weeks?

Chorionic villus sampling (B) Signup and view all the answers

What is a possible risk associated with chorionic villus sampling and amniocentesis?

Miscarriage Signup and view all the answers

Match the following terms with their correct descriptions:

Hb-A = Normal hemoglobin in adults Hb-S = Hemoglobin associated with sickle cell disease Hb-F = Fetal hemoglobin Hb-A2 = Minor component of adult hemoglobin Signup and view all the answers

Gene therapy involves the insertion of a normal ______ gene into stem cells.

β-globin Signup and view all the answers

Vaso-occlusive crises

Painful crises caused by sickle cells blocking small blood vessels, leading to tissue damage.

Hand-foot syndrome

Condition characterized by pain and swelling in hands and feet due to sickle cells occluding blood flow.