Hematology II
Hematology II
X Y XY Unaffected son
Probabilities:
1. Daughters:
o 50% chance of being carriers (XʰX).
o 50% chance of being affected (XʰXʰ).
2. Sons:
o 50% chance of being unaffected (XY).
o 50% chance of being affected (XʰY).
162. If a woman with hemophilia (XʰXʰ) has children with a normal father (XY), what is the probability
that a daughter will be a carrier of hemophilia?
A. 0%
B. 50%
C. 25%
D. 100% (All daughters inherit one affected X chromosome (Xʰ) from their mother, making
them carriers (XʰX).)
163. A mother with hemophilia (XʰXʰ) and a normal father (XY) are expecting a child. What is the
chance that their child will be unaffected?
A. 0% (None of the children can be unaffected because all inherit at least one X chromosome
with the hemophilia mutation from the mother.)
B. 50%
C. 25%
D. 100%
164. A mother with hemophilia (XʰXʰ) and a normal father (XY) are expecting a child. What is the
chance that their child will be affected son:
A. 0%
B. 25%
C. 50%
D. 100% (All sons inherit the affected X chromosome (Xʰ) from their mother, making them
affected (XʰY)
165. What is the genotype of a daughter born to a mother with hemophilia (XʰXʰ) and a normal
father (XY)?
A. XX
B. XʰX (The daughter inherits one affected X chromosome (Xʰ) from the mother and one normal
X chromosome from the father)
C. XʰY
D. XY
166. If a mother with hemophilia has a son, what is his expected phenotype
A. Normal
B. Carrier
C. Affected (The son inherits the affected X chromosome (Xʰ) from his mother and a Y
chromosome from his father, resulting in an affected phenotype (XʰY)
D. Unaffected
167. Why are daughters of an affected mother (XʰXʰ) and a normal father (XY) not affected by
hemophilia?
A. They inherit two normal X chromosomes
B. They inherit a Y chromosome from their father
C. They inherit a normal X chromosome from their father (The normal X chromosome from the
father prevents the daughters from being affected, making them carriers instead)
D. They have a dominant form of the gene
Parental Genotypes:
168. Which of the following is the most common clinical feature of hemophilia?
A. Petechiae
B. Hemarthrosis
C. Hematuria
D. Epistaxis
169. A prolonged aPTT (activated partial thromboplastin time) with a normal platelet count is
typically seen in:
A. Hemophilia A and B
B. von Willebrand disease
C. Immune thrombocytopenic purpura (ITP)
D. Disseminated intravascular coagulation (DIC)
170. The severity of hemophilia is classified based on the level of:
A. Hemoglobin
B. Factor VIII or IX activity
C. Platelet count
D. Fibrinogen level
171. Which of the following is the best initial diagnostic test for a suspected case of hemophilia?
A. Complete blood count (CBC)
B. Prothrombin time (PT)
C. Activated partial thromboplastin time (aPTT)
D. D-dimer test
172. Which variant of hemoglobin is predominant in fetal life
A. Hemoglobin A
B. Hemoglobin F(Major Hemoglobin of Intra-uterine life is Hgb F)
C. Hemoglobin S
D. Hemoglobin C
173. Which of the following is the primary form of hemoglobin during the first few weeks of
embryonic development?
A. Hemoglobin A
B. Hemoglobin S
C. Hemoglobin C
D. Hgb Gower 1 (ζ2,ε2)
174. Which chains are present in embryonic hemoglobin Gower-1?
A. Two alpha (α) and two beta (β) chains
B. Two epsilon (ε) and two zeta (ζ) chains
C. Two gamma (γ) and two delta (δ) chains
D. Two beta (β) and two gamma (γ) chains
175. Hemoglobin Portland is composed of which globin chains?
A. Two alpha (α) and two beta (β) chains
B. Two zeta (ζ) and two gamma (γ) chains
C. Two epsilon (ε) and two delta (δ) chains
D. Two alpha (α) and two gamma (γ) chains
176. At what stage of development does embryonic hemoglobin typically get replaced by fetal
hemoglobin (HbF)?
A. 2-4 weeks of gestation
B. 5-10 weeks of gestation
C. 12-14 weeks of gestation
D. At birth
177. Which hemoglobin is the last to be produced during the embryonic stage before switching to
fetal hemoglobin (HbF)?
A. Hemoglobin A
B. Hemoglobin Portland
C. Hemoglobin Gower-1
D. Hemoglobin Gower-2
178. Which of the following embryonic hemoglobins contains epsilon (ε) chains?
A. Hemoglobin A
B. Hemoglobin Portland
C. Hemoglobin F
D. Hemoglobin Gower-2
179. How many functional alpha-globin genes are present in the normal human genome?
A. 1
B. 2
C. 3
D. 4
180. How many functional beta-globin genes are present in the normal human genome?
A. 1
B. 2
C. 3
D. 4
181. What is the regulatory region called that controls the expression of the beta-globin gene
cluster?
A. TATA box
B. Enhancer element
C. Locus control region (LCR)
D. Polyadenylation site
182. Which gene in the beta-globin cluster is primarily expressed in fetal life?
A. Beta (β)
B. Gamma (γ)
C. Delta (δ)
D. Epsilon (ε)
183. Thalassemia is primarily a disorder affecting which part of the body?
A. Heart
B. Lungs
C. Red blood cells
D. Liver
184. Thalassemia is inherited in which manner?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked dominant
D. X-linked recessive
185. The genetic defect in thalassemia primarily affects the synthesis of
A. Platelets
B. White blood cells
C. Hemoglobin
D. Plasma
186. What type of mutation is most commonly associated with beta thalassemia?
A. Deletion of the beta-globin gene
B. Insertion mutation
C. Point mutation
D. Chromosomal translocation
187. Hemoglobin H disease, a form of alpha thalassemia, results from:
A. Loss of all four alpha-globin genes
B. Loss of three out of four alpha-globin genes
C. Mutation in the beta-globin gene
D. Deletion of both beta-globin genes
188. α-thalassemia (silent carrier ) a form of alpha thalassemia, results from;
A. Loss of all four alpha-globin genes
B. Loss of three out of four alpha-globin genes
C. Mutation in the beta-globin gene
D. One of the four α- globin gene fails to function
189. α-thalssemia-trait (α Thal trait minor) a form of alpha thalassemia, results from;
A. Loss of all four alpha-globin genes
B. Loss of three out of four alpha-globin genes
C. Two of the four α-globin gene fails to functions.
D. One of the four α- globin gene fails to function
190. Bart’s Hydops Fetalis ) a form of alpha thalassemia, results from;
A. Loss of all four alpha-globin genes
B. Loss of three out of four alpha-globin genes
C. Two of the four α-globin gene fails to functions.
D. One of the four α- globin gene fails to function
191. The most common genetic cause of alpha thalassemia is:
A. Point mutation
B. Gene duplication
C. Gene deletion
D. Chromosomal translocation
192. In alpha thalassemia, the loss of one alpha-globin gene (–α/αα) results in
A. Hemoglobin H disease
B. Alpha thalassemia trait
C. Silent carrier state
D. Alpha thalassemia major
193. What is the clinical outcome of Alpha Thalassemia Major if untreated?
A. Lifelong asymptomatic condition
B. Development of hemoglobin H disease
C. Severe anemia, often fatal in utero (hydrops fetalis)
D. Iron overload syndrome
194. Alpha Thalassemia Major is typically caused by the deletion of:
196. Which of the following is a common complication of a surviving infant with Alpha
Thalassemia Major post-treatment?
A. Heart failure
B. Iron deficiency anemia
C. Iron overload due to frequent transfusions
D. Sickle cell crisis
197. The formation of Hemoglobin Barts (γ4) in Alpha Thalassemia Major leads to:
A. Effective oxygen transport
B. Inefficient oxygen delivery and high oxygen affinity
C. Increased red blood cell lifespan
D. Normal hemoglobin electrophoresis results
198. Which of the following is an important prenatal sign of Alpha Thalassemia Major
detected via ultrasound?
A. Fetal growth acceleration
B. Fetal liver enlargement and ascites
C. Oligohydramnios
D. Normal fetal anatomy
199. What is the most likely cause of death in untreated cases of Alpha Thalassemia Major?
A. Respiratory failure
B. Severe cardiac complications due to anemia and hydrops fetalis
C. Infections due to immunosuppression
D. Liver cirrhosis
200. Which physical sign is most likely present in a fetus affected by Alpha Thalassemia Major?
A. Clubbing of fingers
B. Large abdominal circumference due to ascites
C. Petechial rash
D. Cyanosis of the lips
201. The severe anemia in Alpha Thalassemia Major leads to which compensatory
mechanism?
A. Decreased erythropoiesis
B. Extramedullary hematopoiesis, resulting in hepatosplenomegaly
C. Increased white blood cell count
D. Hyperglycemia2
202. The severe hypoxia in Alpha Thalassemia Major is primarily due to:
A. Decreased red blood cell count
B. Inefficient oxygen transport by hemoglobin Barts
C. Decreased erythropoietin production
D. Excess production of hemoglobin A
203. What is a common sign on physical examination of an infant born with Alpha
Thalassemia Major?
A. Tremors
B. Enlarged liver and spleen (hepatosplenomegaly)
C. Blue sclera
D. Hyperactive reflexes
204. Which of the following is a possible early prenatal sign of Alpha Thalassemia Major on
ultrasound?
A. Normal fetal anatomy
B. Small placental size
C. Cardiomegaly
D. Decreased fetal growth
205. What is the typical finding on a peripheral blood smear in Alpha Thalassemia Major?
A. Microcytic hypochromic red cells with target cells
B. Macrocytes and megaloblasts
C. Rouleaux formation
D. Spherocytes
206. Which of the following hemoglobin electrophoresis results is most indicative of Alpha
Thalassemia Major?
A. Normal levels of HbA with increased HbA2
B. Absence of HbA and presence of a high level of Hb Barts
C. Predominantly HbF with decreased HbA
D. Elevated HbA2 and HbC
207. What is the most common finding in a complete blood count (CBC) for Alpha
Thalassemia Major?
A. High hemoglobin levels
B. Normal RBC count and size
C. Severe anemia with low MCV and low MCH (mean corpuscular hemoglobin)
D. High white blood cell count
208. Which of the following results on a complete blood count (CBC) would strongly suggest
Alpha Thalassemia Major?
A. High mean corpuscular volume (MCV)
B. Normal red blood cell distribution width (RDW)
C. Low hemoglobin and low mean corpuscular hemoglobin (MCH)
D. High platelet count
209. Which of the following is the most common cause of Hemoglobin H disease?
A. Mutation in the beta-globin gene
B. Mutation in the gamma-globin gene
C. Deletion of three alpha-globin genes
D. Deletion of all four alpha-globin genes
210. A characteristic finding in Hemoglobin H disease on a peripheral blood smear is:
A. Sickle cells
B. Howell-Jolly bodies
C. Heinz bodies
D. Spherocytes
211. Which type of anemia is typically seen in Hemoglobin H disease?
A. Macrocytic anemia
B. Normocytic anemia
C. Microcytic hypochromic anemia
D. Hemolytic anemia with increased MCV
212. A key feature differentiating Hemoglobin H disease from more severe alpha-
thalassemia (such as hydrops fetalis) is:
A. Presence of Hemoglobin Bart’s
B. Presence of only two alpha-globin gene deletions
C. Compatibility with life without intensive medical intervention
D. Hemoglobin levels above 14 g/dL
213. Hemoglobin H (HbH) consists of which type of globin chains?
A. Two alpha and two beta chains
B. Four alpha chains
C. Four beta chains
D. Two alpha and two delta chains
214. The increased oxygen affinity of Hemoglobin H results in:
A. Efficient oxygen delivery to tissues
B. Reduced oxygen delivery and tissue hypoxia
C. Normal oxygen delivery but reduced hemoglobin stability
D. Severe methemoglobinemia
215. Which of the following is a characteristic laboratory finding in thalassemia trait?
A. Normal mean corpuscular volume (MCV)
B. Microcytic hypochromic red blood cells
C. Elevated white blood cell count
D. Increased platelet count
216. What is the most common clinical feature of thalassemia trait?
A. Severe anemia
B. No symptoms or mild anemia
C. Frequent infections
D. Bone deformities
217. In alpha-thalassemia trait, how many of the four alpha-globin genes are usually deleted or
nonfunctional?
A. ONE
B. TWO
C. Three
D. Four
218. Which treatment is typically required for individuals with thalassemia trait?
A. Regular blood transfusions
B. Bone marrow transplantation
C. Iron supplements
D. No specific treatment is usually require
219. What is the shape of red blood cells in individuals with thalassemia trait?
A. Normal biconcave
B. Target cells (codocytes)
C. Sickle-shaped
D. Fragmented cell
220. The presence of which type of hemoglobin indicates alpha-thalassemia?
A. Hemoglobin Bart’s in newborns
B. Hemoglobin S
C. Hemoglobin E
D. Hemoglobin A
221. What is the primary cause of beta-thalassemia
A. Deletion of alpha-globin genes
B. Point mutations in beta-globin genes
C. Iron deficiency
D. Overproduction of hemoglobin A2
222. Which type of beta-thalassemia is most severe?
A. Beta-thalassemia minor
B. Beta-thalassemia intermedia
C. Beta-thalassemia major
D. Silent carrier of beta-thalassemia
223. What is the alternate name for beta-thalassemia major?
A. Cooley's anemia
B. Mediterranean anemia
C. Sickle-cell anemia
D. Hemoglobinopathy anemia
224. Which clinical feature is characteristic of beta-thalassemia major?
C. Hypoxia
D. Alkalosis
272. The inheritance of G6PD deficiency results in which group being most commonly affected?
A. Females exclusively
B. Males predominantly
C. Both males and females equally
D. Neither males nor females
273. G6PD deficiency is most common in populations from which geographic regions?
A. Northern Europe
B. Sub-Saharan Africa, the Mediterranean, and Southeast Asia
C. Central America
D. East Asia
274. In G6PD deficiency, which of the following is typically seen on a peripheral blood smear during
hemolysis?
A. Hypersegmented neutrophils
B. Spherocytes
C. Bite cells and blister cells
D. Howell-Jolly bodies
275. In G6PD deficiency, the lack of NADPH leads to:
A. Increased oxidative damage to the red blood cell membrane
B. Reduced ATP production
C. Increased oxygen delivery to tissues
D. Enhanced production of reactive oxygen species (ROS)
276. During oxidative stress, hemoglobin in G6PD-deficient red blood cells forms aggregates called:
A. Howell-Jolly bodies
B. Heinz bodies
C. Pappenheimer bodies
D. Basophilic stippling
277. Which of the following mechanisms triggers hemolysis during oxidative stress in G6PD
deficiency?
A. Increased oxygen consumption by red blood cells
B. Lipid peroxidation of the red blood cell membrane
C. Overproduction of erythropoietin
D. Increased binding of hemoglobin to red blood cell membranes
278. Which of the following best describes the pathophysiology of bite cells in G6PD deficiency?
A. They result from defective erythropoiesis in the bone marrow.
B. Macrophages remove Heinz bodies, leaving "bites" in the cell membrane.
C. They are a consequence of excessive hemoglobin synthesis
D. Oxidative stress induces their formation through direct lysis.
279. The G6PD Mediterranean variant is classified as which WHO class?
A. Class I
B. Class II
C. Class III
D. Class IV
280. Which G6PD variant is most common in Mediterranean populations?
A. G6PD Canton
B. G6PD Mediterranean
C. G6PD A-
D. G6PD Kaiping
281. The G6PD Canton variant is primarily observed in:
A. African populations
B. Mediterranean populations
C. East Asian populations
D. South American populations
282. Which of the following is a common clinical feature of G6PD deficiency?
A. Persistent jaundice in adulthood
B. Episodic hemolysis triggered by oxidative stress
C. Macrocytic anemia with hypersegmented neutrophils
D. Pancytopenia
283. A newborn with G6PD deficiency is most at risk for which of the following conditions?
A. Persistent neonatal jaundice
B. Hemarthrosis
C. Recurrent bacterial infections
D. Hypercalcemia
284. Which of the following is a reliable indicator of oxidative damage to red blood cells in G6PD
deficiency?
A. Presence of spherocytes
B. Presence of schistocytes
C. Presence of bite cells on a peripheral smear
D. Hypersegmented neutrophils
285. Which lab test provides evidence of increased erythropoietic activity in response to hemolysis in
G6PD deficiency?
A. Hemoglobin electrophoresis
B. Reticulocyte count
C. Osmotic fragility test
D. Coombs test
286. Which of the following tests can be used to detect G6PD deficiency during a hemolytic episode?
A. Fluorescent spot test for NADPH
B. Direct antiglobulin test (Coombs test)
C. Serum ferritin levels
D. Bone marrow biopsy
287. What would the peripheral blood smear show in G6PD deficiency immediately after a hemolytic
episode?
A. Schistocytes and hypochromic RBCs
B. Increased reticulocytes and polychromasia
C. Spherocytes and microspherocytes
D. Microcytes and tear-drop cells
288. What is the typical finding of serum haptoglobin in G6PD-related hemolysis?
A. Increased
B. Decreased
C. Normal
D. Unaffected
289. Which of the following is the most reliable laboratory indicator of intravascular hemolysis in
G6PD deficiency?
A. Increased plasma haptoglobin
B. Decreased LDH levels
C. Free hemoglobin in the plasma
D. Normal bilirubin levels
290. Which of the following parameters remains unaffected in G6PD deficiency during an acute
hemolytic crisis?
A. Hemoglobin levels
B. Serum potassium
C. Platelet count
D. Reticulocyte count
291. What causes sickle cell anemia?
A. Lack of vitamin B12
B. A mutation in the HBB gene
C. Deficiency of iron in the diet
D. Viral infection
292. Sickle cell anemia primarily affects which component of the blood?
A. Platelets
B. White blood cells
C. Red blood cells
D. Plasma
293. Sickle cell anemia follows which pattern of inheritance?
A. Autosomal dominant
B. Autosomal recessive
C. X-linked recessive
D. Mitochondrial
294. The mutation in the HBB gene results in the substitution of which amino acid in hemoglobin?
A. Glutamic acid to valine
B. Glutamic acid to alanine
C. Valine to leucine
D. Proline to glycine
295. The hemoglobin variant produced in sickle cell disease is called:
A. Hemoglobin C
B. Hemoglobin S
C. Hemoglobin E
D. Hemoglobin F
296. Sickle cell disease is inherited in an autosomal recessive pattern. Which of the following
genotypes indicates an individual with sickle cell disease?
A. AA
B. AS
C. SS
D. AC
297. An individual with sickle cell disease (SS) has parents with which genotypes?
A. AA and AA
B. AS and AS
C. AS and SS
D. AA and AS
298. An individual who inherits one sickle cell allele (S) and one normal allele (A) is considered to
have which of the following genotypes?
A. AA
B. AS(Trait)
C. SS
D. AC
299. Which of the following is true about individuals with sickle cell trait (AS)?
A. They have sickle cell disease
B. They have normal hemoglobin
C. They carry one sickle cell allele but typically do not show symptoms
D. They have hemoglobin F
300. Which of the following genotypes is most likely to result in a person being asymptomatic but a
carrier of sickle cell disease?
A. AS
B. SS
C. AA
D. AC
301. What effect does the sickle cell mutation have on the hemoglobin molecule?
A. It decreases oxygen-carrying capacity
B. It causes the red blood cells to take on a rigid, sickle shape
C. It prevents red blood cells from being recycled in the spleen
D. It leads to an excess of red blood cells in the bloodstream
302. What is the result of the point mutation in sickle cell disease at the codon for hemoglobin?
A. The production of hemoglobin F
B. A change in amino acid from glutamic acid to valine
C. A change from valine to alanine
D. An increased rate of hemoglobin breakdown
303. Individuals with sickle cell trait (AS) have what kind of hemoglobin?
A. Hemoglobin A only
B. Hemoglobin S only
C. Both hemoglobin A and hemoglobin S
D. Both hemoglobin A and hemoglobin C
304. Which of the following is NOT a characteristic of a person with sickle cell trait as seen on
hemoglobin electrophoresis?
A. Presence of hemoglobin A
B. Presence of hemoglobin S
C. Presence of hemoglobin F
D. Presence of hemoglobin C
305. In sickle cell disease, the sickling of red blood cells is primarily triggered by:
A. Low oxygen levels
B. High oxygen levels
C. Vitamin D deficiency
D. Low pH (acidosis)
306. The vaso-occlusive crises in sickle cell disease occur when:
A. Sickle-shaped cells are too large to pass through small blood vessels
B. Red blood cells are lost in the urine
C. White blood cells accumulate in the blood vessels
D. Platelets aggregate to form clots in arteries
307. Vaso-occlusion in sickle cell disease results in which of the following?
A. Organ ischemia
B. Excessive blood clotting
C. Reduced platelet function
D. Increased white blood cell count
308. The most common type of pain associated with sickle cell disease is:
A. Chest pain
B. Abdominal pain
C. Joint pain
D. Leg ulcers
309. Which of the following is a common complication of sickle cell disease that affects the lungs?
A. Acute chest syndrome
B. Pulmonary embolism
C. Pneumonia
D. Asthma
310. The primary cause of priapism in sickle cell disease is:
A. Impaired blood flow due to sickled cells
B. Inflammation of the penis
C. Bacterial infection
D. Hormonal imbalances
311. What is the lifespan of a sickled red blood cell compared to a normal red blood cell?
A. 120 days for both
B. 60 days for sickled cells, 120 days for normal cells
C. 10–20 days for sickled cells, 120 days for normal cells
D. 30 days for sickled cells, 100 days for normal cells
312. The polymerization of hemoglobin S in sickle cell disease is exacerbated by which of the
following factors?
A. Decreased pH (acidosis)
B. High temperature
C. High iron levels
D. High blood pressure
313. splenic sequestration crisis in sickle cell anemia is characterized by;
A. A crisis caused by excessive destruction of red blood cells in the spleen
B. Intrasplenic trapping of red blood cells
C. A crisis caused by infection of the spleen
D. Spleen enlargement due to iron overload
314. Recurrent splenic sequestration crisis can lead to which of the following over time?
A. Autosplenectomy (functional asplenia)
B. Hepatomegaly
C. Chronic pulmonary hypertension
D. Chronic kidney disease
315. An aplastic crisis in sickle cell disease is typically caused by:
A. Paravirus B19 infection
B. Epstein-Barr virus (EBV) infection
C. Iron deficiency
D. Bacterial sepsis
316. Which of the following is a hallmark laboratory finding in an aplastic crisis?
A. Reticulocytopenia (low reticulocyte count)
B. Increased platelet count
C. Elevated reticulocyte count
D. Leukocytosis
317. A hemolytic crisis in sickle cell anemia is characterized by:
A. Sudden destruction of red blood cell
B. Suppression of bone marrow activity
C. Increased production of hemoglobin F
D. Decreased white blood cell count
318. Which of the following is commonly elevated in a hemolytic crisis?
A. Serum haptoglobin
B. Reticulocyte count
C. Hemoglobin levels
D. Platelet count
319. Which feature differentiates aplastic crisis from hemolytic crisis?
A. Elevated bilirubin levels
B. Low reticulocyte count
C. Increased hemoglobin levels
D. Bone pain
320. In sickle cell anemia, the hemoglobin level is typically:
A. Elevated (>16 g/dL)
B. Normal (12-15 g/dL)
C. Decreased (6-9 g/dL)
D. Undetectable (<2 g/dL)
321. In patients with functional asplenia due to sickle cell anemia, the peripheral blood smear may
show:
A. Howell-Jolly bodies
B. Heinz bodies
C. Basophilic stippling
D. Siderocytes
322. Sideroblastic anemia is characterized by:
A. Decreased production of hemoglobin
B. Abnormal incorporation of iron into hemoglobin
C. Increased iron loss from the body
D. Autoimmune destruction of red blood cells
323. The hallmark feature of sideroblastic anemia on a bone marrow biopsy is:
A. Hypersegmented neutrophils
B. Ringed sideroblasts
C. Howell-Jolly bodies
D. Heinz bodies
324. Sideroblastic anemia is caused by defects in:
A. Iron absorption in the gut
B. Heme synthesis in erythroblasts
C. DNA synthesis in the bone marrow
D. Red blood cell membrane structure
325. Sideroblastic anemia can be classified as:
A. Only hereditary
B. Only acquired
C. Both hereditary and acquired
D. A type of hemolytic anemia
326. Which enzyme deficiency is commonly associated with hereditary sideroblastic anemia?
A. Ferrochelatase
B. ALA synthase
C. ALA dehydratase
D. Uroporphyrinogen decarboxylase
327. Peripheral blood smear in sideroblastic anemia typically shows:
A. Microcytic, hypochromic red blood cells
B. Macrocytic red blood cells
C. Target cells and spherocytes
D. Normocytic, normochromic red blood cells
328. Which of the following genetic mutations is commonly associated with X-linked sideroblastic
anemia?
A. HFE gene
B. ALAS2 gene
C. SCL11A2 gene
D. TFR2 gene
329. Hereditary sideroblastic anemia is primarily inherited as:
A. Autosomal dominant
B. Autosomal recessive
C. X-linked recessive
D. Mitochondrial inheritance
330. Prussian blue staining in bone marrow aspirates highlights
A. Hemosiderin deposits around erythroblasts
B. Reticulocytes in circulation
C. Mitochondrial DNA mutations
D. Hemoglobin precipitates
331. The key biochemical defect in hereditary sideroblastic anemia involves dysfunction in:
A. Heme synthesis
B. Iron absorption in the gut
C. Ferritin transport
D. Erythropoietin production
332. Common clinical manifestations of sideroblastic anemia include:
A. Fatigue, weakness, and hepatosplenomegaly
B. Jaundice, joint pain, and neuropathy
C. Hematuria, proteinuria, and thrombosis
D. Fever, rash, and weight loss
333. Which of the following is the most common cause of megaloblastic anemia
A. Iron deficiency
B. Vitamin B12 deficiency
C. Lead poisoning
D. Hemolysis
334. Which of the following medications can lead to megaloblastic anemia?
A. Metformin
B. Methotrexate
C. Aspirin
D. Hydroxyurea
335. A dietary deficiency of folate is most commonly seen in
A. Vegans
B. Alcoholics
C. Pregnant women
D. Elderly individuals
336. Which of the following conditions increases the demand for folate, leading to megaloblastic
anemia?
A. Hypothyroidism
B. Pregnancy
C. Chronic kidney disease
D. Iron deficiency
337. In megaloblastic anemia, the characteristic finding in a peripheral blood smear is:
A. Microcytic hypochromic RBCs
B. Macrocytic RBCs with hypersegmented neutrophils
C. Target cells
D. Sickle-shaped RBCs
338. Which laboratory finding is most consistent with megaloblastic anemia?
A. Increased reticulocyte count
B. Normal mean corpuscular volume (MCV)
C. Elevated MCV (>98 fL)
D. Low serum ferritin
339. A key finding in bone marrow aspirates in megaloblastic anemia is:
A. Ringed sideroblasts
B. Megaloblastic erythroid precursors
C. Hypocellular marrow
D. Increased iron stores
340. Prolonged untreated megaloblastic anemia may lead to:
A. Heart failure
B. Aplastic crisis
C. Pancytopenia
D. Acute leukemia
341. Which protein is essential for the absorption of Vitamin B12 in the ileum?
A. Transcobalamin
B. Intrinsic factor
C. Albumin
D. Haptoglobin
342. The major dietary sources of Vitamin B12 include:
A. Fruits and vegetables
B. Grains and cereals
C. Meat, fish, and dairy products
D. Nuts and seeds
343. Vitamin B12 is stored predominantly in the:
A. Kidneys
B. Bone marrow
C. Liver
D. Spleen
344. The first step in Vitamin B12 metabolism involves binding to which protein in the stomach?
A. Intrinsic factor
B. R-binder (haptocorrin)
C. Albumin
D. Transferrin
345. Once absorbed, Vitamin B12 is transported in the bloodstream by:
A. Albumin
B. Transferrin
C. Transcobalamin II
D. Hemoglobin
346. Vitamin B12 is a cofactor in the conversion of:
A. Homocysteine to methionine
B. Propionyl-CoA to succinyl-CoA
C. Both A and B
D. Glutamate to alpha-ketoglutarate
347. A deficiency in Vitamin B12 impairs the synthesis of which compound?
A. Methionine
B. Glutathione
C. Heme
D. Glycine
348. Which clinical syndrome is associated with Vitamin B12 deficiency due to autoimmune
destruction of parietal cells?
A. Pernicious anemia
B. Fanconi anemia
C. Sideroblastic anemia
D. Diamond-Blackfan anemia
349. The active form of folate in the body is:
A. Dihydrofolate (DHF)
B. Tetrahydrofolate (THF)
C. Folinic acid
D. N5-methyl tetrahydrofolate
350. The primary dietary sources of folate include:
A. Dairy products
B. Leafy green vegetables, fruits, and legumes
C. Fish and seafood
D. Grains and cereals
351. Folate absorption primarily occurs in the:
A. Ileum
B. Lower jejunum
C. Duodenum and upper jejunum
D. Colon
352. In megaloblastic anemia, the erythroid precursors in the bone marrow appear:
A. Smaller than normal
B. Larger than normal with open chromatin
C. Normal in size with condensed chromatin
D. Fragmented and apoptotic
353. Glossitis in megaloblastic anemia appears as:
A. A swollen, red, and painful tongue
B. A white-coated tongue
C. A dry and cracked tongue
D. A tongue with ulcers and patches
354. Gastrointestinal symptoms of megaloblastic anemia include:
A. Constipation and bloating
B. Diarrhea and anorexia
C. Abdominal pain with vomiting
D. None of the above
355. Neural tube defects in a fetus are related to a deficiency of:
A. Iron
B. Folate
C. Vitamin B12
D. Vitamin D
356. Cold immune hemolytic anemia (CIHA) is caused by
A. Warm-reactive IgG antibodies
B. Cold-reactive IgM antibodies
C. Immune complex deposition
D. T-cell mediated cytotoxicity
357. The most common antibody implicated in cold agglutinin disease is:
A. IgE
B. IgG
C. IgM
D. IgA
358. What is the primary initiating factor in the pathophysiology of cold agglutinin disease?
A. IgG binding to RBCs at warm temperatures
B. IgM binding to RBCs at low temperatures
C. Direct destruction of RBC membranes by cytokines
D. Increased osmotic fragility of RBCs in cold environments
359. The complement pathway activated in cold agglutinin disease is the;
A. Classical pathway
B. Alternative pathway
C. Lectin pathway
D. Mixed pathway
360. A hallmark laboratory finding in cold agglutinin disease due to complement activation is:
A. Positive direct antiglobulin test (DAT) for C3d
B. Increased red cell distribution width (RDW)
C. Decreased ferritin levels
D. Elevated vitamin B12 levels
361. Cold agglutinin disease secondary to Mycoplasma pneumoniae infection is due to:
A. Cross-reactivity between Mycoplasma antigens and RBC antigens
B. Immune complex deposition in blood vessels
C. Direct production of IgM by infected RBCs
D. Mycoplasma-induced suppression of complement inhibitors
362. What causes the characteristic acrocyanosis in cold agglutinin disease?
A. Agglutination of RBCs in the extremities leading to ischemia
B. Increased levels of methemoglobin in cold environments
C. Vasoconstriction triggered by cold-reactive IgG
D. Immune complex deposition in peripheral arteries
363. The primary antibody involved in warm autoimmune hemolytic anemia is:
A. IgA
B. IgE
C. IgG
D. IgM
364. Warm autoimmune hemolytic anemia occurs optimally at a temperature of:
A. 15°C
B. 22°C
C. 37°C
D. 42°C
365. In WAIHA, hemolysis is primarily:
A. Intravascular
B. Extravascular
C. Microangiopathic
D. Directly complement-mediated
366. The key site of RBC destruction in WAIHA is:
A. Spleen
B. Liver
C. Kidneys
D. Bone marrow
367. The major mechanism of RBC destruction in WAIHA is:
A. Activation of the classical complement pathway
B. Opsonization by IgG and phagocytosis by macrophages
C. Hemolysis due to thermal instability of RBCs
D. Direct attack by cytotoxic T cells
368. A common secondary cause of WAIHA is:
A. Mycoplasma pneumoniae infection
B. Lymphoproliferative disorders (e.g., lymphoma)
C. Cold exposure
D. Drug-induced immune reactions
369. Which autoimmune disease is most commonly associated with WAIHA?
A. Systemic lupus erythematosus (SLE)
B. Rheumatoid arthritis
C. Sjögren's syndrome
D. Multiple sclerosis
370. Drug-induced WAIHA is commonly associated with which drug class?
A. Penicilline
B. Cephalosporins
C. Non-steroidal anti-inflammatory drugs (NSAIDs)
D. All of the above
371. Which hematologic malignancy is often associated with warm autoimmune hemolytic anemia?
A. Chronic lymphocytic leukemia (CLL)
B. Acute myeloid leukemia (AML)
C. Hodgkin's lymphoma
D. Multiple myeloma
372. The hallmark laboratory test for diagnosing WAIHA is:
A. Direct antiglobulin test (DAT) or Coombs test
B. Reticulocyte count
C. Peripheral blood smear
D. Serum bilirubin
373. In WAIHA, the direct antiglobulin test (DAT) typically detects:
A. IgM alone
B. IgG or C3d on the RBC surface
C. Free hemoglobin in the plasma
D. Antibodies against platelet glycoproteins
374. A characteristic finding on the peripheral blood smear in WAIHA is:
A. Schistocytes
B. Spherocytes
C. Target cells
D. Basophilic stippling
375. A key feature differentiating WAIHA from cold agglutinin disease is:
A. WAIHA involves IgG antibodies, while cold agglutinin disease involves IgM.
B. WAIHA occurs at colder temperatures.
C. WAIHA is mediated primarily by complement.
D. WAIHA causes intravascular hemolysis, whereas cold agglutinin disease does not.
376. The most common cause of iron deficiency anemia worldwide is:
A. Vitamin B12 deficiency
B. Folate deficiency
C. Chronic blood loss
D. Hemolysis
377. Which of the following populations is at the highest risk of developing iron deficiency anemia?
A. Adult males
B. Postmenopausal women
C. Pregnant women
D. Athletes
378. Iron deficiency anemia in adult males and postmenopausal females should prompt evaluation
for:
A. Hemolysis
B. Gastrointestinal blood loss
C. Vitamin C deficiency
D. Bone marrow failure
379. Which of the following dietary components inhibits iron absorption?
A. Vitamin C
B. Phytates (found in whole grains)
C. Protein
D. Fats
380. The earliest stage of iron deficiency is characterized by:
A. Low hemoglobin levels
B. Depleted iron stores in the bone marrow
C. Increased serum ferritin levels
D. Macrocytosis
381. In iron deficiency anemia, reduced hemoglobin synthesis leads to:
A. Normocytic anemia
B. Microcytic, hypochromic anemia
C. Macrocytic anemia
D. Spherocytic anemia
382. A classic symptom of iron deficiency anemia is:
A. Jaundice
B. Pica (craving for non-food substances)
C. Splenomegaly
D. Petechiae
383. Restless legs syndrome is a neurological symptom associated with:
A. Megaloblastic anemia
B. Iron deficiency anemia
C. Thalassemia
D. Sickle cell anemia
384. The most sensitive marker for iron deficiency is:
A. Serum ferritin
B. Hemoglobin level
C. Mean corpuscular volume (MCV)
D. Reticulocyte count
385. A peripheral blood smear in iron deficiency anemia typically shows:
A. Macrocytosis and hypersegmented neutrophils
B. Microcytosis, hypochromia, and pencil-shaped cells
C. Spherocytes and polychromasia
D. Schistocytes and nucleated red blood cells
386. Which of the following is a hallmark finding in iron deficiency anemia?
A. Reticulocytosis
B. Elevated haptoglobin levels
C. Decreased reticulocyte production index
D. High serum ferritin levels
387. A possible long-term complication of untreated severe iron deficiency anemia is:
A. Myocardial infarction
B. Heart failure
C. Polycythemia
D. Bone marrow fibrosis
388. Plummer-Vinson syndrome, associated with severe iron deficiency, includes:
A. Splenomegaly and hepatomegaly
B. Dysphagia and esophageal webs
C. Hemoglobinuria and kidney failure
D. Pancytopenia and bone marrow failure
389. In IDA, iron absorption occurs predominantly in the:
A. Stomach
B. Duodenum and proximal jejunum
C. Ileum
D. Colon
390. The storage form of iron in the body is:
A. Transferrin
B. Hemoglobin
C. Ferritin
D. Hemosiderin
391. Which of the following proteins is responsible for transporting iron in the bloodstream?
A. Albumin
B. Transferrin
C. Haptoglobin
D. Ferritin
392. A sign of chronic IDA that involves spoon-shaped nails is known as:
A. Leukonychia
B. Koilonychia
C. Onycholysis
D. Beau’s lines
393. Which lab value differentiates IDA from anemia of chronic disease (ACD)?
A. Serum iron
B. Total iron-binding capacity (TIBC)
C. Mean corpuscular volume (MCV)
D. Hemoglobin level
394. Anemia with a low MCV and low reticulocyte count suggests:
A. Iron deficiency anemia
B. Hemolytic anemia
C. Megaloblastic anemia
D. Sickle cell anemia
395. The best dietary source of heme iron is:
A. Spinach
B. Red meat
C. Lentils
D. Fortified cereals
396. Iron absorption is inhibited by:
A. Orange juice
B. Tea or coffee
C. Vitamin C
D. Low gastric Ph
397. Iron is stored in macrophages in the form of:
A. Transferrin
B. Ferritin and hemosiderin
C. Hemoglobin
D. Myoglobin
398. In IDA, which enzyme activity is reduced due to low heme availability
A. Superoxide dismutase
B. Cytochrome oxidase
C. Catalase
D. Glutathione reductase
399. In iron deficiency anemia, which of the following parameters is increased?
A. Serum ferritin
B. Reticulocyte hemoglobin content
C. Free erythrocyte protoporphyrin
D. Mean corpuscular volume (MCV)
400. Which is a potential adverse effect of oral iron therapy?
A. Hypokalemia
B. Dark stools
C. Hyperbilirubinemia
D. Bradycardia