COMPREHENSIVE HUMAN GENETICS, DISORDERS, AND
CLINICAL MANAGEMENT PRACTICE EXAM | 130
QUESTIONS WITH ANSWERS & RATIONALES
Includes Genetics, Hematology, Respiratory, Metabolic Disorders, Medications, Lab
Diagnostics, and Scenario-Based Clinical Questions
Q1. What organ does cystic fibrosis primarily affect?
A) Liver
B) Lungs and pancreas
C) Heart
D) Kidneys
Explanation: Cystic fibrosis causes thick mucus obstructing the lungs
(respiratory issues) and pancreas (digestive enzyme blockage).
Q2. What is Klinefelter syndrome?
A) Males with an extra X chromosome (XXY), causing female-like
traits)
B) Females with missing X chromosome
C) A mutation in the CFTR gene
D) Increased beta-globin production
Explanation: XXY males may show gynecomastia, infertility, and low
testosterone.
Q3. What is Turner syndrome?
A) Females with a missing or deformed X chromosome
B) Males with extra X chromosome
C) Overproduction of hemoglobin
D) A type of cystic fibrosis
Explanation: Turner syndrome causes short stature, ovarian failure, and
sometimes hearing and attentional problems.
Q4. What is beta thalassemia?
, A) A condition with decreased or absent beta-globin chains, causing
anemia
B) Excess alpha-globin production
C) A lung disorder
D) A type of diabetes
Explanation: Leads to microcytic anemia and low hemoglobin; patients
often require transfusions.
Q5. Which medication is contraindicated in beta thalassemia?
A) Folic acid
B) Ferrous sulfate
C) Hydroxyurea
D) Vitamin B12
Explanation: Iron supplements worsen iron overload in these patients.
Hematology & Blood Disorders
Q6. Sickle cell anemia is caused by:
A) A mutation in the beta-globin gene producing abnormal hemoglobin
S
B) Excess alpha-globin chains
C) A defect in platelet production
D) A mutation in the CFTR gene
Explanation: HbS causes red blood cells to sickle, leading to vaso-
occlusion and anemia.
Q7. Symptoms of sickle cell anemia include:
A) Hyperpigmentation
B) Pain crises, fatigue, and risk of stroke
C) Excessive bleeding only
D) Kidney failure exclusively
Explanation: Sickled cells block vessels, causing pain, organ damage, and
anemia-related fatigue.
Q8. Which lab finding is typical for iron deficiency anemia?
, A) High MCV
B) Low hemoglobin and low MCV
C) Elevated hemoglobin A1C
D) Increased WBC count
Explanation: Iron deficiency causes microcytic anemia (low MCV) and
low hemoglobin.
Q9. Which type of anemia is caused by vitamin B12 deficiency?
A) Megaloblastic anemia
B) Iron deficiency anemia
C) Hemolytic anemia
D) Aplastic anemia
Explanation: B12 deficiency impairs DNA synthesis, producing large,
immature RBCs.
Q10. A patient with anemia has jaundice, fatigue, and enlarged spleen. Which type
is likely?
A) Iron deficiency
B) Hemolytic anemia
C) Pernicious anemia
D) Beta thalassemia minor
Explanation: Hemolytic anemia involves premature RBC destruction
causing jaundice and splenomegaly.
Respiratory Disorders
Q11. In cystic fibrosis, thick mucus in the lungs causes:
A) Asthma only
B) Chronic infections and bronchiectasis
C) Tuberculosis
D) Pulmonary embolism
Explanation: Obstructed airways trap bacteria, leading to repeated
infections.
Q12. Which is a common CF-related digestive problem?