MCQs on Other Hematological Disorders

Written by Dr. Daniel Fraser (MBBS, FRACP) – Physician

Question 1

Which of the following is the most profound adverse effect of chronic transfusional iron overload in children with thalassemia?

A) Progressive hepatic cirrhosis
B) Extramedullary hematopoeisis
C) Productive cough and shortness of breath
D) Hemolytic anemia
E) Autosplenectomy

Correct Answer: A) Progressive hepatic cirrhosis

Chronic transfusional iron overload is a significant complication in children with thalassemia major, particularly due to the lifelong need for regular blood transfusions. The body lacks a physiological mechanism to excrete excess iron, so it accumulates in various organs, leading to tissue damage.

The most profound adverse effect among the options listed is progressive hepatic cirrhosis, resulting from iron deposition in the liver. This can eventually lead to liver failure if not managed with iron chelation therapy.

Iron overload also affects the heart, leading to congestive heart failure, dysrhythmias, and pericarditis. It can also impair endocrine function, causing growth delay, delayed puberty, hypothyroidism, hypoparathyroidism, and diabetes mellitus.

Option B (extramedullary hematopoiesis) is a feature of thalassemia itself due to ineffective erythropoiesis, not a consequence of iron overload.
Option C (productive cough and shortness of breath) may occur secondary to cardiac complications of iron overload but is not a primary or direct effect.
Option D (hemolytic anemia) is the underlying disease mechanism in thalassemia, not a complication of iron overload.
Option E (autosplenectomy) is a classic complication of sickle cell disease, not thalassemia. In fact, splenomegaly may occur in thalassemia due to extramedullary hematopoiesis or congestive heart failure, but autosplenectomy is not typical.

Question 2

A 22-year-old woman comes to the emergency department complaining of epistaxis for the past 12 hours. She denies any trauma to her nose and face. On examination, she is noted to have several bruises over her chest, arms and legs and petechiae on the inner side of her lower lip. Laboratory tests revealed a platelet count of 223,000/mm³, a PT of 12 seconds, and a prolonged APTT of 57 seconds. Her blood tests are otherwise normal. Which one of the following could be the most likely diagnosis?

A) Hemophilia
B) Von Willebrand disease
C) Factor XI deficiency
D) Hemolytic uremic syndrome (HUS)
E) Idiopathic thrombocytopenic purpura (ITP)

Correct Answer: B) Von Willebrand disease

This patient presents with platelet-type bleeding manifestations such as epistaxis, bruising, and petechiae, but with a normal platelet count and normal PT. The key laboratory finding is a prolonged APTT, which suggests a defect involving the intrinsic coagulation pathway.

Von Willebrand disease (VWD) is the most common hereditary bleeding disorder, characterized by a deficiency or dysfunction of von Willebrand factor (vWF). vWF is essential for platelet adhesion and also acts as a carrier for factor VIII; thus, its deficiency can lead to prolonged APTT due to reduced factor VIII activity.

Option A (Hemophilia) is unlikely since it is an X-linked recessive disorder, usually affecting males. Females are carriers and typically asymptomatic.
Option C (Factor XI deficiency) is very rare and typically does not cause significant bleeding.
Option D (HUS) is characterized by microangiopathic hemolytic anemia with schistocytes on blood smear and signs of hemolysis, which are absent here.
Option E (ITP) presents with low platelet count, which is not seen in this patient.

Thus, the clinical and laboratory findings point toward Von Willebrand disease as the most likely diagnosis.

Question 3

A 32-year-old woman, accompanied by her brother, presents with a complaint that every time she gets a cut, it takes a long time for the bleeding to stop. She also mentions that she is distressed with her heavy periods, for which she has to use 10 pads a day. Her brother mentions that she has been like that since he can remember. She is otherwise healthy with no significant findings on physical examination. Which one of the following is the most likely diagnosis?

A) Hemophilia A
B) Stuart disease
C) Von Willebrand disease
D) Factor IX deficiency
E) Immune thrombocytopenic purpura (ITP)

Correct Answer: C) Von Willebrand disease

This patient’s long-standing history of prolonged bleeding after minor trauma and heavy menstrual bleeding (menorrhagia), along with a family history, strongly suggests Von Willebrand disease (VWD). VWD is the most common inherited bleeding disorder, often inherited in an autosomal dominant pattern.

Von Willebrand factor is essential for platelet adhesion and acts as a carrier for factor VIII, playing a critical early role in coagulation. Symptoms can be mild to moderate and include:

Easy bruising
Mucosal bleeding (e.g., epistaxis, menorrhagia, gastrointestinal bleeding)
Prolonged bleeding after cuts or surgery
Absence of deep bleeding such as hemarthroses (except in very rare type 3 VWD)
Option A (Hemophilia A) and Option D (Factor IX deficiency, Hemophilia B) are X-linked disorders affecting males predominantly; symptomatic females are extremely rare. These cause factor-type bleeding (deep tissue bleeding), unlike the mucosal bleeding seen here.
Option B (Stuart disease, Factor X deficiency) is very rare and can cause mixed bleeding patterns but is unlikely here.
Option E (ITP) presents with petechiae and bruising, but typically involves thrombocytopenia rather than a prolonged bleeding time.

Thus, the clinical picture and family history point towards Von Willebrand disease as the most likely diagnosis.

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6. Hematology Module

6.1 Anemia

6.2 Thrombocytopenia

6.3 Thromboembolism

6.4 Anti-Coagulation

6.5 Lymphomas

6.6 Other Hematological Disorders

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