Hemoglobinopathies (Thalassemia)
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Questions and Answers

Which of the following laboratory tests is used to assess the severity of anemia in a beta-thalassemia intermedia patient?

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Fecal stercobilinogen levels are normal in patients with beta-thalassemia major.

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What is the primary therapeutic intervention for patients with beta-thalassemia major?

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Which type of hemoglobin is primarily found in adults?

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The presence of ______ nucleated red blood cells (NRBCs) in a peripheral blood smear points to a more severe form of beta-thalassemia.

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Hemoglobinopathies are only symptomatic when an individual carries two copies of the abnormal gene.

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Match the following laboratory findings with their corresponding condition:

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What are the two main categories of hemoglobinopathies?

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Thalassemia is characterized by a reduction or absence of the production of the ______ chains.

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Match the following types of hemoglobin with their corresponding globin chain composition:

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Which of the following conditions is NOT a hemoglobinopathy?

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Individuals carrying a defective gene for hemoglobinopathies are always protected from malaria.

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What is the primary reason for the high prevalence of hemoglobinopathies in certain areas of the world?

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What are the characteristic lab findings in β-thalassemia minor? (Select all that apply)

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In β-thalassemia major, there is a complete absence of HbA.

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What are the two main types of β-thalassemia?

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The characteristic ‘hair-on-end’ appearance in β-thalassemia major is a result of ______ of the skull.

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Match the clinical features of β-thalassemia major with their underlying causes.

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Which of the following lab tests is considered the 'gold standard' for diagnosing β-thalassemia?

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β-thalassemia minor is typically asymptomatic and does not require treatment.

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What is the recommended treatment for iron overload in β-thalassemia major?

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Which of the following statements accurately describes the pathophysiology of thalassemia?

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Thalassemia is an autosomal dominant condition.

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What are the two most common types of thalassemia?

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The clinical severity of alpha-thalassemia is directly related to the number of ___________ that have been deleted.

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Match the following alpha-thalassemia genotypes with their corresponding clinical presentations:

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Which of the following findings would you expect to see in a complete blood count (CBC) of an individual with alpha-thalassemia trait (minor)?

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Individuals with Hb H disease typically experience a mild form of alpha-thalassemia.

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What is the characteristic Hb variant found in Hb H disease?

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What is the primary cause of Hb H disease?

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Hb Bart's is the primary hemoglobin variant found in Hydrops fetalis.

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What is the name of the blood film staining method used to identify Hb H cells after incubation with new methylene blue?

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In β-thalassemia, excess α-chains precipitate in erythroblasts, leading to ______ erythropoiesis.

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Match the following terms with their corresponding definitions:

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The CBC parameter most helpful in differentiating iron deficiency anemia from thalassemia is the RDW.

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Which of the following blood film findings are commonly observed in thalassemia?

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What is the main difference between Hb H disease and Hydrops fetalis?

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What is the clinical syndrome associated with a 4 gene deletion in thalassemias?

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A 1 gene deletion in thalassemias results in thalassemia major.

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What blood picture is associated with heterozygous β thalassemia?

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A 3 gene deletion in thalassemia leads to _____ disease.

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Match the following thalassemia types with their characteristics:

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In which type of thalassemia is iron overload a concern?

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A patient with α thalassaemia trait will always present with anaemia.

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What type of thalassemia is represented by homozygous genotype?

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Flashcards

Thalassemia

A group of disorders with reduced globin chain production, leading to anemia.

Alpha Thalassemia

A type of thalassemia with low synthesis of alpha chains.

Beta Thalassemia

A type of thalassemia with low synthesis of beta chains.

Hemoglobinopathies

Hereditary abnormalities in hemoglobin structure or production.

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Prevalence in UAE

High frequency of hemoglobin disorders due to genetic factors.

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Qualitative Hemoglobinopathies

Disorders with correct quantity but incorrect structure of hemoglobin.

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Quantitative Hemoglobinopathies

Disorders with correct structure but low hemoglobin quantity.

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Hemoglobin F

Fetal hemoglobin with the structure α2γ2.

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Nucleated RBC's

Red blood cells that contain a nucleus, typically found in immature forms.

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Lab findings in β-Thalassemia Major

Increased bilirubin, urobilinogen, and LDH; normal ferritin and transferrin receptor.

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Treatment options for β-Thalassemia Major

Includes regular blood transfusions, iron chelation therapy, splenectomy, and folic acid therapy.

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β-Thalassemia Intermedia

A clinical phenotype with variable severity, ranging from transfusion-dependent to mild symptoms.

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Eventual future treatment

Gene therapy is being researched as a potential cure for β-thalassemia.

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β-Thalassemia

A genetic blood disorder affecting hemoglobin synthesis, particularly related to beta chains.

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β-Thalassemia trait (minor)

A condition with small amounts of β-chain synthesis; often asymptomatic, caused by one affected gene.

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Symptoms of β-Thalassemia minor

Common symptoms include mild anemia, normal or increased RBC count, and low MCV/MCH.

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β-Thalassemia Major

Severe form of β-thalassemia with no β-chain synthesis due to both genes being affected; presents with severe anemia.

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Clinical features of β-Thalassemia Major

Includes severe anemia, failure to thrive, hepatosplenomegaly, and skeletal deformities due to marrow expansion.

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Iron overload consequences

Can lead to heart failure, liver failure, endocrine damage, and skin pigmentation due to repeated blood transfusions.

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Lab diagnosis of β-Thalassemia Major

Diagnosis involves low Hb, low MCV, microcytic hypochromic RBCs, elevated Hb F and reticulocyte counts.

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Hb electrophoresis findings

In β-thalassemia major, Hb F is >95%, only trace Hb A2 present, indicating no Hb A synthesis.

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Hb H

A type of hemoglobin formed from β-chain aggregates, typically seen in adults.

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Hb Bart's

A hemoglobin variant (γ4) present in newborns, constituting about 25% at birth.

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Poikilocytosis

Presence of abnormally shaped red blood cells in blood films.

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α:β ratio

The balance between alpha and beta globin chains in blood cells.

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Hb H disease

A type of α-thalassemia major with 3 α-gene deletions leading to severe anemia.

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Hydrops fetalis

Severe form of α-thalassemia with 4 α-gene deletions, leading to fetal death.

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Microcytic Hypochromic Anemia

Anemia characterized by small, pale red blood cells.

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Blood Film Findings

Diagnostic test showing characteristics of red blood cells.

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Haemoglobin Bart's

Result of 4 gene deletions leading to fetal hydrops; lethal in utero.

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Alpha thalassaemia trait

Results from 2 gene deletions; presents microcytic, +/- hypochromic blood picture.

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Beta thalassaemia major

Homozygous condition leading to severe anaemia; requires regular transfusions.

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Beta thalassaemia minor

Heterozygous condition causing mild microcytic, hypochromic anaemia.

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Thalassaemia intermediate

A mild form of thalassaemia major; presents microcytic anemia with organ enlargement.

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Hb Lepore

A variant of hemoglobin with low MCV and MCH; made up of Hb A and Hb Lepore.

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