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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?
Which of the following laboratory tests is used to assess the severity of anemia in a beta-thalassemia intermedia patient?
- Hb (correct)
- Ferritin
- Transferrin receptor
- LDH
Fecal stercobilinogen levels are normal in patients with beta-thalassemia major.
Fecal stercobilinogen levels are normal in patients with beta-thalassemia major.
False (B)
What is the primary therapeutic intervention for patients with beta-thalassemia major?
What is the primary therapeutic intervention for patients with beta-thalassemia major?
Regular blood transfusion
Which type of hemoglobin is primarily found in adults?
Which type of hemoglobin is primarily found in adults?
- Hemoglobin F
- Hemoglobin A (correct)
- Hemoglobin A2
- All of the above
The presence of ______ nucleated red blood cells (NRBCs) in a peripheral blood smear points to a more severe form of beta-thalassemia.
The presence of ______ nucleated red blood cells (NRBCs) in a peripheral blood smear points to a more severe form of beta-thalassemia.
circulating
Hemoglobinopathies are only symptomatic when an individual carries two copies of the abnormal gene.
Hemoglobinopathies are only symptomatic when an individual carries two copies of the abnormal gene.
True (A)
Match the following laboratory findings with their corresponding condition:
Match the following laboratory findings with their corresponding condition:
Increased bilirubin = Beta-thalassemia major Normal ferritin = Beta-thalassemia major Moderate to severe microcytic anemia = Beta-thalassemia intermedia Splenomegaly = Beta-thalassemia intermedia
What are the two main categories of hemoglobinopathies?
What are the two main categories of hemoglobinopathies?
Quantitative and Qualitative
Thalassemia is characterized by a reduction or absence of the production of the ______ chains.
Thalassemia is characterized by a reduction or absence of the production of the ______ chains.
globin
Match the following types of hemoglobin with their corresponding globin chain composition:
Match the following types of hemoglobin with their corresponding globin chain composition:
Hemoglobin A = α2β2 Hemoglobin F = α2γ2 Hemoglobin A2 = α2δ2
Which of the following conditions is NOT a hemoglobinopathy?
Which of the following conditions is NOT a hemoglobinopathy?
- Thalassemia
- Hemophilia (correct)
- Sickle Cell Anemia
- Hb C disease
Individuals carrying a defective gene for hemoglobinopathies are always protected from malaria.
Individuals carrying a defective gene for hemoglobinopathies are always protected from malaria.
False (B)
What is the primary reason for the high prevalence of hemoglobinopathies in certain areas of the world?
What is the primary reason for the high prevalence of hemoglobinopathies in certain areas of the world?
These genes are most common in areas of the world where malaria was prevalent.
What are the characteristic lab findings in β-thalassemia minor? (Select all that apply)
What are the characteristic lab findings in β-thalassemia minor? (Select all that apply)
- Slightly decreased hemoglobin levels (correct)
- Increased red blood cell count
- Increased reticulocyte count
- Elevated HbF and HbA2 levels (correct)
- Low MCV and MCH values (correct)
In β-thalassemia major, there is a complete absence of HbA.
In β-thalassemia major, there is a complete absence of HbA.
True (A)
What are the two main types of β-thalassemia?
What are the two main types of β-thalassemia?
β-thalassemia minor (trait) and β-thalassemia major
The characteristic ‘hair-on-end’ appearance in β-thalassemia major is a result of ______ of the skull.
The characteristic ‘hair-on-end’ appearance in β-thalassemia major is a result of ______ of the skull.
frontal bossing
Match the clinical features of β-thalassemia major with their underlying causes.
Match the clinical features of β-thalassemia major with their underlying causes.
Severe anemia = Complete absence of β-chain synthesis Hepatomegaly and splenomegaly = Excessive red blood cell destruction, extramedullary hematopoiesis, and iron overload Expansion of bones = Bone marrow hyperplasia Iron overload = Repeated blood transfusions Infections = Immune system compromise due to anemia and chronic illness
Which of the following lab tests is considered the 'gold standard' for diagnosing β-thalassemia?
Which of the following lab tests is considered the 'gold standard' for diagnosing β-thalassemia?
- Blood film analysis
- HPLC analysis (correct)
- Hb electrophoresis
- Bone marrow biopsy
- Complete blood count
β-thalassemia minor is typically asymptomatic and does not require treatment.
β-thalassemia minor is typically asymptomatic and does not require treatment.
True (A)
What is the recommended treatment for iron overload in β-thalassemia major?
What is the recommended treatment for iron overload in β-thalassemia major?
Chelation therapy
Which of the following statements accurately describes the pathophysiology of thalassemia?
Which of the following statements accurately describes the pathophysiology of thalassemia?
- The excess globin chains are readily eliminated from the bloodstream.
- The precipitation of globin chains within red blood cells leads to increased red blood cell lifespan.
- The reduced production of globin chains results in an imbalance between alpha and beta chains. (correct)
- DNA mutations in globin genes lead to an increase in globin chain production.
Thalassemia is an autosomal dominant condition.
Thalassemia is an autosomal dominant condition.
False (B)
What are the two most common types of thalassemia?
What are the two most common types of thalassemia?
Alpha-thalassemia and Beta-thalassemia
The clinical severity of alpha-thalassemia is directly related to the number of ___________ that have been deleted.
The clinical severity of alpha-thalassemia is directly related to the number of ___________ that have been deleted.
alpha-globin genes
Match the following alpha-thalassemia genotypes with their corresponding clinical presentations:
Match the following alpha-thalassemia genotypes with their corresponding clinical presentations:
aa/a- = Trait (Silent carrier) aa/-- (heterozygous) OR, a-/a- (homozygous) = Trait (Minor) a-/-- = Hb H disease --/-- = Hydrops fetalis
Which of the following findings would you expect to see in a complete blood count (CBC) of an individual with alpha-thalassemia trait (minor)?
Which of the following findings would you expect to see in a complete blood count (CBC) of an individual with alpha-thalassemia trait (minor)?
- Elevated hemoglobin (Hb) levels
- Decreased mean corpuscular hemoglobin (MCH) (correct)
- Increased mean corpuscular volume (MCV)
- Reduced red blood cell count
Individuals with Hb H disease typically experience a mild form of alpha-thalassemia.
Individuals with Hb H disease typically experience a mild form of alpha-thalassemia.
False (B)
What is the characteristic Hb variant found in Hb H disease?
What is the characteristic Hb variant found in Hb H disease?
Hb H (β4)
What is the primary cause of Hb H disease?
What is the primary cause of Hb H disease?
- β-chain aggregates (correct)
- γ-chain aggregates
- α-chain aggregates
- δ-chain aggregates
Hb Bart's is the primary hemoglobin variant found in Hydrops fetalis.
Hb Bart's is the primary hemoglobin variant found in Hydrops fetalis.
True (A)
What is the name of the blood film staining method used to identify Hb H cells after incubation with new methylene blue?
What is the name of the blood film staining method used to identify Hb H cells after incubation with new methylene blue?
Brilliant Cresyl Blue stain
In β-thalassemia, excess α-chains precipitate in erythroblasts, leading to ______ erythropoiesis.
In β-thalassemia, excess α-chains precipitate in erythroblasts, leading to ______ erythropoiesis.
ineffective
Match the following terms with their corresponding definitions:
Match the following terms with their corresponding definitions:
Hb H = A tetramer of γ-globin chains Hb Bart's = A tetramer of β-globin chains Hydrops fetalis = A severe form of α-thalassemia with death in utero or at birth Poikilocytosis = A variation in the shape of red blood cells Anisocytosis = A variation in the size of red blood cells
The CBC parameter most helpful in differentiating iron deficiency anemia from thalassemia is the RDW.
The CBC parameter most helpful in differentiating iron deficiency anemia from thalassemia is the RDW.
True (A)
Which of the following blood film findings are commonly observed in thalassemia?
Which of the following blood film findings are commonly observed in thalassemia?
- Microcytic hypochromic red blood cells (correct)
- Target cells (correct)
- Schistocytes (correct)
- All of the above
What is the main difference between Hb H disease and Hydrops fetalis?
What is the main difference between Hb H disease and Hydrops fetalis?
Hb H disease is a milder form of α-thalassemia with survival beyond birth, while Hydrops fetalis is a severe form leading to death in utero or at birth.
What is the clinical syndrome associated with a 4 gene deletion in thalassemias?
What is the clinical syndrome associated with a 4 gene deletion in thalassemias?
- Thalassemia major
- Thalassemia minor
- Haemoglobin Bart’s (correct)
- HbH disease
A 1 gene deletion in thalassemias results in thalassemia major.
A 1 gene deletion in thalassemias results in thalassemia major.
False (B)
What blood picture is associated with heterozygous β thalassemia?
What blood picture is associated with heterozygous β thalassemia?
Microcytic, hypochromic blood picture
A 3 gene deletion in thalassemia leads to _____ disease.
A 3 gene deletion in thalassemia leads to _____ disease.
HbH
Match the following thalassemia types with their characteristics:
Match the following thalassemia types with their characteristics:
Thalassemia major = Severe anaemia, requires transfusions Thalassemia minor = Microcytic, hypochromic blood picture, anaemia mild or absent Thalassemia intermediate = Microcytic, hypochromic anaemia with clinical symptoms Hb Lepore = Low MCV and MCH
In which type of thalassemia is iron overload a concern?
In which type of thalassemia is iron overload a concern?
- HbH disease
- Thalassemia intermediate (correct)
- Haemoglobin Bart's
- Thalassemia minor
A patient with α thalassaemia trait will always present with anaemia.
A patient with α thalassaemia trait will always present with anaemia.
False (B)
What type of thalassemia is represented by homozygous genotype?
What type of thalassemia is represented by homozygous genotype?
Thalassemia major
Flashcards
Thalassemia
Thalassemia
A group of disorders with reduced globin chain production, leading to anemia.
Alpha Thalassemia
Alpha Thalassemia
A type of thalassemia with low synthesis of alpha chains.
Beta Thalassemia
Beta Thalassemia
A type of thalassemia with low synthesis of beta chains.
Hemoglobinopathies
Hemoglobinopathies
Hereditary abnormalities in hemoglobin structure or production.
Prevalence in UAE
Prevalence in UAE
High frequency of hemoglobin disorders due to genetic factors.
Qualitative Hemoglobinopathies
Qualitative Hemoglobinopathies
Disorders with correct quantity but incorrect structure of hemoglobin.
Quantitative Hemoglobinopathies
Quantitative Hemoglobinopathies
Disorders with correct structure but low hemoglobin quantity.
Hemoglobin F
Hemoglobin F
Fetal hemoglobin with the structure α2γ2.
Nucleated RBC's
Nucleated RBC's
Red blood cells that contain a nucleus, typically found in immature forms.
Lab findings in β-Thalassemia Major
Lab findings in β-Thalassemia Major
Increased bilirubin, urobilinogen, and LDH; normal ferritin and transferrin receptor.
Treatment options for β-Thalassemia Major
Treatment options for β-Thalassemia Major
Includes regular blood transfusions, iron chelation therapy, splenectomy, and folic acid therapy.
β-Thalassemia Intermedia
β-Thalassemia Intermedia
A clinical phenotype with variable severity, ranging from transfusion-dependent to mild symptoms.
Eventual future treatment
Eventual future treatment
Gene therapy is being researched as a potential cure for β-thalassemia.
β-Thalassemia
β-Thalassemia
A genetic blood disorder affecting hemoglobin synthesis, particularly related to beta chains.
β-Thalassemia trait (minor)
β-Thalassemia trait (minor)
A condition with small amounts of β-chain synthesis; often asymptomatic, caused by one affected gene.
Symptoms of β-Thalassemia minor
Symptoms of β-Thalassemia minor
Common symptoms include mild anemia, normal or increased RBC count, and low MCV/MCH.
β-Thalassemia Major
β-Thalassemia Major
Severe form of β-thalassemia with no β-chain synthesis due to both genes being affected; presents with severe anemia.
Clinical features of β-Thalassemia Major
Clinical features of β-Thalassemia Major
Includes severe anemia, failure to thrive, hepatosplenomegaly, and skeletal deformities due to marrow expansion.
Iron overload consequences
Iron overload consequences
Can lead to heart failure, liver failure, endocrine damage, and skin pigmentation due to repeated blood transfusions.
Lab diagnosis of β-Thalassemia Major
Lab diagnosis of β-Thalassemia Major
Diagnosis involves low Hb, low MCV, microcytic hypochromic RBCs, elevated Hb F and reticulocyte counts.
Hb electrophoresis findings
Hb electrophoresis findings
In β-thalassemia major, Hb F is >95%, only trace Hb A2 present, indicating no Hb A synthesis.
Hb H
Hb H
A type of hemoglobin formed from β-chain aggregates, typically seen in adults.
Hb Bart's
Hb Bart's
A hemoglobin variant (γ4) present in newborns, constituting about 25% at birth.
Poikilocytosis
Poikilocytosis
Presence of abnormally shaped red blood cells in blood films.
α:β ratio
α:β ratio
The balance between alpha and beta globin chains in blood cells.
Hb H disease
Hb H disease
A type of α-thalassemia major with 3 α-gene deletions leading to severe anemia.
Hydrops fetalis
Hydrops fetalis
Severe form of α-thalassemia with 4 α-gene deletions, leading to fetal death.
Microcytic Hypochromic Anemia
Microcytic Hypochromic Anemia
Anemia characterized by small, pale red blood cells.
Blood Film Findings
Blood Film Findings
Diagnostic test showing characteristics of red blood cells.
Haemoglobin Bart's
Haemoglobin Bart's
Result of 4 gene deletions leading to fetal hydrops; lethal in utero.
Alpha thalassaemia trait
Alpha thalassaemia trait
Results from 2 gene deletions; presents microcytic, +/- hypochromic blood picture.
Beta thalassaemia major
Beta thalassaemia major
Homozygous condition leading to severe anaemia; requires regular transfusions.
Beta thalassaemia minor
Beta thalassaemia minor
Heterozygous condition causing mild microcytic, hypochromic anaemia.
Thalassaemia intermediate
Thalassaemia intermediate
A mild form of thalassaemia major; presents microcytic anemia with organ enlargement.
Hb Lepore
Hb Lepore
A variant of hemoglobin with low MCV and MCH; made up of Hb A and Hb Lepore.
