Topic : Beta Thalassemia
A 25-year-old male with beta thalassemia intermedia is considering starting a family.
He is concerned about the risk of passing on his condition. His partner is heterozygous
for beta thalassemia. What is the risk that their child will inherit beta thalassemia
major?
A) 25%
B) 50%
C) 75%
D) 100%
Answer: A) 25%
Explanation: If one parent has beta thalassemia intermedia (heterozygous for the
beta-globin mutation) and the other parent is a carrier (heterozygous for beta
thalassemia), the child has a 25% chance of inheriting beta thalassemia major, a severe
form of the disease.
A patient with beta-thalassemia intermedia undergoes genetic testing,
which reveals a compound heterozygous mutation in the HBB gene, with
one mutation causing reduced beta-globin synthesis and the other being a
mild beta-plus mutation. What type of mutation combination is most
likely?
A) β⁰/β⁰
B) β⁺/β⁺
C) β⁰/β⁺
D) β⁺/Normal
Answer: C) β⁰/β⁺
Explanation:Beta-thalassemia intermedia often results from a combination
of mutations with varying severity. A β⁰ mutation results in no beta-globin
production, while a β⁺ mutation allows some production, leading to an
intermediate phenotype.
A child with beta thalassemia major has facial deformities, including prominent frontal
bossing and maxillary overgrowth. What is the underlying cause of these changes?
A) Vitamin D deficiency
B) Extramedullary hematopoiesis
C) Chronic malnutrition
D) Genetic mutation of collagen
Answer: B) Extramedullary hematopoiesis
Explanation: Due to ineffective erythropoiesis, the bone marrow expands excessively,
leading to characteristic facial changes known as "chipmunk facies.
A 1-year-old child with beta thalassemia major is started on regular blood
transfusions. What is the main long-term complication of repeated
transfusions?
A) Iron deficiency
B) Iron overload
C) Folate deficiency
D) Bone marrow suppression
Answer: B) Iron overload
Explanation: Regular transfusions can lead to excessive iron accumulation in
organs like the heart, liver, and pancreas, causing complications such as heart
failure and diabetes.
A 2-year-old child presents with pallor, growth retardation, and
hepatosplenomegaly. Blood tests reveal microcytic hypochromic anemia with
target cells. What is the most likely diagnosis?
A) Iron deficiency anemia
B) Lead poisoning
C) Beta thalassemia major
D) Sickle cell anemia
Answer: C) Beta thalassemia major
Explanation: The child’s age, pallor, growth delay, hepatosplenomegaly, and
microcytic hypochromic anemia with target cells are characteristic of beta
thalassemia major.
A 15-year-old boy with beta-thalassemia intermedia is found to have
bilirubin gallstones. What is the most likely underlying cause?
A) Hemolysis
B) Iron overload
C) Cholecystitis
D) Hepatitis
Answer: A) Hemolysis
Explanation: Chronic hemolysis in beta-thalassemia intermedia leads to
increased bilirubin levels, which predispose to pigment gallstone
formation.
A 9-month-old infant is diagnosed with beta thalassemia major. What is the most
definitive diagnostic test?
A) Complete blood count (CBC)
B) Hemoglobin electrophoresis
C) Serum iron studies
D) Bone marrow biopsy
Answer: B) Hemoglobin electrophoresis
Explanation: Hemoglobin electrophoresis shows an absence or significant reduction
of hemoglobin A (HbA) with an increase in hemoglobin F (HbF), confirming beta
thalassemia major.
Which of the following findings is most characteristic of beta thalassemia major on a
peripheral blood smear?
A) Macrocytic anemia with hypersegmented neutrophils
B) Microcytic hypochromic RBCs with target cells
C) Spherocytes with reticulocytosis
D) Tear-drop cells and schistocytes
Answer: B) Microcytic hypochromic RBCs with target cells
Explanation: The hallmark of beta thalassemia major is microcytosis, hypochromia,
and target cells due to defective hemoglobin synthesis.
What is the role of genetic counseling in Beta Thalassemia Minor?
A) To advise on the risk of passing Beta Thalassemia Major to offspring
B) To suggest bone marrow transplantation
C) To recommend regular blood transfusions
D) To encourage iron supplementation
Answer: A) To advise on the risk of passing Beta Thalassemia Major to offspring
Explanation: If both parents have Beta Thalassemia Minor, there is a 25% chance
their child may inherit Beta Thalassemia Major, which is severe.
Why do beta thalassemia major patients require folic acid supplementation?
A) To enhance iron absorption
B) To support increased erythropoiesis
C) To prevent neurological complications
D) To reduce iron overload
Answer: B) To support increased erythropoiesis
Explanation: Chronic hemolysis and erythropoiesis increase folate demand,
requiring supplementation to prevent megaloblastic changes.
A 35-year-old woman with beta-thalassemia intermedia presents with fatigue and
new-onset heart failure. What is the most likely cause?
A) Myocardial infarction
B) Severe anemia
C) Iron overload cardiomyopathy
D) Hypertension
Answer: C) Iron overload cardiomyopathy
Explanation: Excess iron deposition in the heart due to increased intestinal iron
absorption can lead to restrictive or dilated cardiomyopathy.
Which organ is most commonly affected by iron overload in beta-thalassemia
intermedia?
A) Liver
B) Lungs
C) Kidneys
D) Skin
Answer: A) Liver
Explanation: The liver is the primary site for iron storage, and iron overload can
lead to fibrosis or cirrhosis.
A patient with beta thalassemia minor is found to have an increased red blood cell
count despite anemia. What is the best explanation for this finding?
A) Iron overload
B) Ineffective erythropoiesis
C) Compensatory erythropoiesis
D) Bone marrow suppression
Answer: C) Compensatory erythropoiesis
Explanation: The body attempts to compensate for reduced hemoglobin production
by increasing RBC production, leading to a higher RBC count despite anemia.
A 40-year-old man with beta thalassemia minor is found to have an
elevated hemoglobin A2 level. What does this indicate?
A) Coexisting iron deficiency
B) Diagnosis of beta thalassemia minor
C) Hemolytic anemia
D) Vitamin B12 deficiency
Answer: B) Diagnosis of beta thalassemia minor
Explanation: Beta thalassemia minor is characterized by increased
hemoglobin A2 (>3.5%) on hemoglobin electrophoresis.
What is the inheritance pattern of beta thalassemia minor?
A) Autosomal dominant
B) Autosomal recessive
C) X-linked recessive
D) Mitochondrial inheritance
Answer: B) Autosomal recessive
Explanation: Beta thalassemia minor occurs when a person inherits one defective
beta-globin gene from one parent.
Which hemoglobin is absent in Beta Thalassemia Major? -
A) HbF
B) HbA
C) HbA2
D) HbH
Answer: B) HbA
Explanation: HbA requires beta chains, which are absent in Beta Thalassemia Major.
What is a distinguishing feature between Beta Thalassemia Minor and iron
deficiency anemia?
A) Increased HbA2 levels in Beta Thalassemia Minor
B) Low ferritin levels in Beta Thalassemia Minor
C) High MCV in Beta Thalassemia Minor
D) Increased serum iron in iron deficiency anemia
Answer: A) Increased HbA2 levels in Beta Thalassemia Minor
Explanation: HbA2 is elevated in Beta Thalassemia Minor but normal or low
in iron deficiency anemia.
What is the characteristic hemoglobin pattern in Beta Thalassemia Intermedia?
A) Predominantly HbA2 (α2δ2)
B) Predominantly HbH (β4)
C) Increased HbF (α2γ2) and variable HbA (α2β2)
D) Only HbF (α2γ2), no HbA
Answer: C) Increased HbF (α2γ2) and variable HbA (α2β2)
Explanation: *Beta Thalassemia Intermedia* is a *moderate* form of the disease,
where some beta-chain production is still maintained. This allows *HbA (α2β2)* to be
present but in reduced amounts. *HbF (α2γ2)* is significantly elevated but not as high
as in Beta Thalassemia Major. *HbA2 (α2δ2)* may also be increased, but HbF is the
dominant abnormal hemoglobin. Unlike Beta Thalassemia Major, some HbA is still
present in Intermedia.
Which of the following is NOT a common complication of beta-thalassemia
intermedia?
A)Stroke
B) Deep vein thrombosis (DVT)
C) Diabetes
D) Increased risk of leukemia
Answer: D) Increased risk of leukemia
Explanation: While iron overload can cause endocrine issues like diabetes, leukemia
is not commonly associated with beta-thalassemia intermedia.
A 10-year-old boy with beta thalassemia minor has no symptoms. What is the
recommended follow-up?
A) Annual CBC and hemoglobin electrophoresis
B) Monthly blood transfusions
C) Bone marrow biopsy
D) Iron therapy
Answer: A) Annual CBC and hemoglobin electrophoresis
Explanation: Routine monitoring is sufficient for asymptomatic individuals .
