Hematopathology Practice Questions

Q: The genetic inheritance of Haemophilia is

Sex-linked recessive. ***Sex-linked recessive*** - Hemophilia, specifically hemophilia A and B, is inherited in an **X-linked recessive** pattern. - Males, having only one X chromosome, are predominantly affected, as a single copy of the mutated gene on the X chromosome leads to the condition. *Autosomal recessive* - Autosomal recessive disorders require **two copies** of the mutated gene (one from each parent) to manifest, and affect males and females equally. - This inheritance pattern does not explain the male predominance and carrier status in females seen in hemophilia. *Autosomal dominant* - Autosomal dominant disorders require only **one copy** of the mutated gene to cause the disease, and also affect males and females equally. - This pattern would mean an affected parent has a 50% chance of passing the condition to each child, which is not characteristic of hemophilia. *Sex-linked dominant* - Sex-linked dominant disorders would affect both males and females, with affected fathers passing the trait to **all their daughters** but none of their sons. - This pattern is not consistent with the inheritance of hemophilia, where affected mothers can pass it to their sons.

Q: Which of the following blood components has the shortest shelf life?

Platelets. ***Platelets*** - **Platelets** have the shortest shelf life among the listed blood components, typically stored for **5 days** at room temperature with continuous agitation. - Their short shelf life is due to the risk of **bacterial contamination** and reduced therapeutic efficacy over time. *Fresh frozen plasma* - **Fresh frozen plasma (FFP)** can be stored for up to **1 year** at temperatures of -18°C or colder. - Once thawed, it must be used within **24 hours** if stored at 1-6°C. *Cryoprecipitate* - **Cryoprecipitate**, like FFP, can be stored for up to **1 year** at -18°C or colder. - After thawing, it is stable for **6 hours** at room temperature or **24 hours** if pooled and stored at room temperature. *Red Blood Cells* - **Red blood cells (RBCs)**, when stored in additive solutions, have a shelf life of up to **42 days** at 1-6°C. - This longer shelf life is due to specialized storage conditions that minimize metabolic activity and preserve cell integrity.

Q: Consider the following statements: Haemophilia A (haemophilia) and Haemophilia B (christmas disease) 1. are variants of the same disease process 2. are due to congenital deficiency of factor VIII and factor IX respectively 3. both are sex linked characteristics and transmitted by asymptomatic females 4. can occur both in males and females Select the correct answer using the code given below:

2 and 3. ***2 and 3*** - Hemophilia A is caused by a deficiency of **Factor VIII**, and Hemophilia B is caused by a deficiency of **Factor IX** [1]. These are distinct but clinically similar genetic disorders of the coagulation cascade. - Both hemophilia A and B are **X-linked recessive disorders**, meaning they predominantly affect males and are transmitted by asymptomatic female carriers [2]. *1, 2 and 4* - While both hemophilia A and B result in similar bleeding phenotypes, they are due to deficiencies in different **coagulation factors** (Factor VIII and Factor IX, respectively), making them distinct diseases, not variants of the same process [2]. - While hemophilia mainly affects males, a female can be affected if she inherits two affected X chromosomes (one from each parent) or has **Turner syndrome** (XO) with an affected X chromosome, but this is extremely rare. *2 only* - This option correctly identifies the specific factor deficiencies for Hemophilia A (**Factor VIII**) and Hemophilia B (**Factor IX**) [1]. - However, it omits the crucial aspect of their **sex-linked inheritance** and transmission by asymptomatic females, which is a fundamental characteristic of both conditions [2]. *3 only* - This option correctly states that both hemophilia A and B are **sex-linked characteristics** and are transmitted by **asymptomatic females** [2]. - However, it fails to mention the specific deficient factors (Factor VIII and Factor IX), which is key to understanding the underlying pathology of these two distinct disorders.

Q: The ideal temperature to store the whole blood in blood-bank is

4°C. ***4°C*** - Whole blood is typically stored at **1 to 6°C**, with **4°C** being the optimal compromise to preserve red blood cell viability and minimize bacterial growth [1]. - This temperature range allows for a standard storage duration of **21 to 42 days**, depending on the anticoagulant-preservative solution used [1]. *-4°C* - Temperatures below freezing point (**0°C**) would cause **hemolysis** due to ice crystal formation within the red blood cells, making the blood unsuitable for transfusion. - While frozen storage is used for specific blood components (e.g., cryopreserved red blood cells or plasma), it requires different protocols and cryoprotectants. *8°C* - Storing whole blood at **8°C** is above the recommended range and would significantly decrease the storage time due to increased metabolic activity and **bacterial proliferation**. - This temperature also leads to a faster decline in **red blood cell viability** and function. *0°C* - Storing whole blood at **0°C** is at the freezing point of water and close to the freezing point of blood, which can lead to initial **ice crystal formation** and subsequent hemolysis. - Although it's within the recommended 1-6°C range, maintaining exactly 0°C without fluctuations into freezing territory is challenging and poses a risk to blood quality [1].

Q: A 34-year-old female presented with low hemoglobin, platelet count of 25,000 / mm³, raised PT and APTT. The image shows a peripheral smear. Which of the following fusion genes is affected?

PML-RARA. ***PML-RARA*** - The image shows **promyelocytes** with prominent granules and **Auer rods** (indicated by the arrow), which are characteristic of Acute Promyelocytic Leukemia (APL). [1] - APL is strongly associated with the **t(15;17)** translocation, leading to the **PML-RARA** fusion gene. The patient’s clinical presentation of pancytopenia (low hemoglobin, low platelet count) and prolonged PT/APTT leading to **DIC**, is highly consistent with APL. [1] *RUNX1-RUNX1T1* - This fusion gene is associated with **Acute Myeloid Leukemia (AML) M2** (AML with maturation), often due to t(8;21) translocation. [1] - While it is a type of AML, the peripheral smear and clinical features are more specific to APL, not AML M2. *INV 16* - Inversion 16, denoted as **inv(16)(p13q22)**, is associated with an AML subtype that typically presents with **myelomonocytic differentiation** and **abnormal eosinophils** in the bone marrow. [1] - The image and clinical findings do not suggest myelomonocytic morphology or the presence of abnormal eosinophils, making APL a more likely diagnosis. *IGH-NSD2* - This fusion gene is characteristic of **Multiple Myeloma**, a plasma cell malignancy. - Multiple myeloma would present with plasma cell proliferation, bone lesions, and hypercalcemia, which differ significantly from the acute leukemia presentation seen here. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 620-622.

Q: Which of the following diagnoses give the hematological picture as given below?

Saturnism. ***Saturnism*** - The image displays **basophilic stippling** in red blood cells, which is a classic hematological finding in **lead poisoning** (saturnism). - Lead inhibits enzymes involved in **heme synthesis**, leading to the accumulation of ribosomal RNA aggregates detected as basophilic stippling. *Arsenic poisoning* - Arsenic poisoning can cause various hematological abnormalities, including **anemia** and **pancytopenia**, but **basophilic stippling** is not a characteristic feature. - Its mechanism of toxicity involves inhibiting enzyme function and cellular respiration, distinct from lead's effect on heme synthesis. *Chronic iron toxicity* - Chronic iron toxicity typically leads to **hemochromatosis**, with iron deposition in various organs, and can cause **liver damage** and **cardiomyopathy**. - It does not primarily manifest with **basophilic stippling** in red blood cells. *Minamata disease* - Minamata disease is a severe neurological syndrome caused by **mercury poisoning**, particularly **methylmercury**. - It primarily affects the **nervous system**, causing symptoms like ataxia, sensory disturbances, and tremors, and does not typically present with **basophilic stippling**.

Q: An elderly male patient presented with clinical symptoms and signs consistent with possible multiple myeloma. Electrophoresis shows an M spike, and immunofixation findings are shown below. Which of the following statements best corresponds to the findings?

Multiple myeloma with increased IgG. ***Multiple myeloma with increased IgG*** - The immunofixation image shows a distinct, *monoclonal band (M spike)* in the **IgG lane (G)**, corresponding to the initial electrophoresis (ELP) M spike [1]. There is also a corresponding band in the **kappa light chain (K)** lane [1]. - The presence of a dominant band in IgG, along with a matching light chain (either kappa or lambda), indicates an **IgG monoclonal gammopathy**, which is characteristic of the most common type of multiple myeloma [1]. *Multiple myeloma with increased IgM* - This option would correspond to a strong, monoclonal band in the **IgM lane (M)**, which is not the case here. The 'M' lane in the image shows a faint/normal band, not an increased M spike. - Increased IgM monoclonal protein (M spike) is characteristic of **Waldenström macroglobulinemia**, not typically multiple myeloma [2]. *Multiple myeloma with increased IgA* - If the patient had IgA multiple myeloma, there would be a prominent monoclonal band in the **IgA lane (A)**, which is not observed in this immunofixation result. The 'A' lane shows a considerably smaller band compared to IgG. - IgA multiple myeloma is a less common subtype than IgG myeloma and would present with an IgA M spike [1]. *Waldenström macroglobulinemia* - Waldenström macroglobulinemia is characterized by a monoclonal gammopathy of the **IgM type**, which would present as a distinct M spike in the IgM lane [2]. - The immunofixation clearly shows an **IgG M spike**, ruling out Waldenström macroglobulinemia based on the type of monoclonal gammopathy [2]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 608-609. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 606-607.

Q: The histopathology image shown is characteristic of which of the following diseases? ![img-30.jpeg](img-30.jpeg)

Gaucher's disease. ***Gaucher's disease*** - The image shows **Gaucher cells** - characteristic lipid-laden macrophages with a distinctive **"crumpled tissue paper" or "wrinkled silk" cytoplasmic appearance** and eccentric nuclei [1] - These cells are pathognomonic for **Gaucher's disease**, an **autosomal recessive lysosomal storage disorder** caused by **glucocerebrosidase deficiency** [1] - Accumulation of **glucocerebroside** in macrophages creates the characteristic morphology seen in bone marrow, spleen, and liver [1] - Caused by mutations in the *GBA* gene on chromosome 1 [1] *Tay-Sachs disease* - Autosomal recessive disorder caused by **hexosaminidase A deficiency** leading to **GM2 ganglioside accumulation** [2] - Characteristic findings include **cherry-red spot on macula** and neuronal ballooning, not the macrophage changes seen in this image [2] - Does not produce Gaucher cells *Sandhoff's disease* - Caused by deficiency of both **hexosaminidase A and B** due to *HEXB* gene mutations - Similar to Tay-Sachs with GM2 ganglioside accumulation affecting neurons - Does not produce the characteristic macrophage morphology shown in the image *Fabry's disease* - **X-linked recessive** disorder caused by **alpha-galactosidase A deficiency** - Accumulation of **globotriaosylceramide** in vascular endothelial cells - Histology may show lipid deposits in vessels and kidney, not the distinctive Gaucher cells seen here **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, pp. 162-163. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Genetic Disorders, p. 161.

Q: Identify the gene commonly involved in the condition shown in the image?

BRAF V600E. ***BRAF V600E*** - The image displays cells with **Langerhans cell morphology**, including folded nuclei and abundant pale cytoplasm, which are characteristic of **Langerhans cell histiocytosis (LCH)** [1]. - The **BRAF V600E mutation** is the most common genetic alteration found in LCH, present in about 50-60% of cases and activating the MAPK pathway [1]. *RAS* - **RAS mutations** are frequently seen in various cancers, including colorectal adenocarcinoma, pancreatic adenocarcinoma, and non-small cell lung cancer. - While RAS pathway activation can occur in LCH, a direct RAS mutation is not the most common genetic driver; rather, downstream effectors like BRAF V600E are more prominent [1]. *RET* - **RET mutations** are primarily associated with **medullary thyroid carcinoma** (in both sporadic and inherited forms like MEN 2A and MEN 2B) and can also be found in certain types of lung cancer. - They are not a characteristic genetic alteration for Langerhans cell histiocytosis. *P53* - The **TP53 gene** encodes the tumor suppressor protein p53, and mutations in this gene are among the most frequent genetic alterations across a wide spectrum of human cancers. - Although p53 plays a critical role in cell cycle regulation and apoptosis, it is not a primary or common driver mutation specifically associated with Langerhans cell histiocytosis [1]. **References:** [1] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Diseases of White Blood Cells, Lymph Nodes, Spleen, and Thymus, pp. 629-630.

Question 1

The genetic inheritance of Haemophilia is

Accepted Answer

Sex-linked recessive

Answer

Autosomal recessive

Answer

Autosomal dominant

Answer

Sex-linked dominant

Question 2

Which of the following blood components has the shortest shelf life?

Accepted Answer

Platelets

Answer

Fresh frozen plasma

Answer

Cryoprecipitate

Answer

Red Blood Cells

Question 3

Consider the following statements: Haemophilia A (haemophilia) and Haemophilia B (christmas disease)

1. are variants of the same disease process
2. are due to congenital deficiency of factor VIII and factor IX respectively
3. both are sex linked characteristics and transmitted by asymptomatic females
4. can occur both in males and females

Select the correct answer using the code given below:

Accepted Answer

2 and 3

Answer

1, 2 and 4

Answer

2 only

Answer

3 only

Question 4

The ideal temperature to store the whole blood in blood-bank is

Accepted Answer

4°C

Answer

-4°C

Answer

8°C

Answer

0°C

Question 5

A 34-year-old female presented with low hemoglobin, platelet count of 25,000 / mm³, raised PT and APTT. The image shows a peripheral smear. Which of the following fusion genes is affected?

Accepted Answer

PML-RARA

Answer

RUNX1-RUNX1T1

Answer

INV 16

Answer

IGH-NSD2

Question 6

Which of the following diagnoses give the hematological picture as given below?

Accepted Answer

Saturnism

Answer

Arsenic poisoning

Answer

Chronic iron toxicity

Answer

Minamata disease

Question 7

An elderly male patient presented with clinical symptoms and signs consistent with possible multiple myeloma. Electrophoresis shows an M spike, and immunofixation findings are shown below. Which of the following statements best corresponds to the findings?

Accepted Answer

Multiple myeloma with increased IgG

Answer

Multiple myeloma with increased IgM

Answer

Multiple myeloma with increased IgA

Answer

Waldenström macroglobulinemia

Question 8

The histopathology image shown is characteristic of which of the following diseases?
![img-30.jpeg](img-30.jpeg)

Accepted Answer

Gaucher's disease

Answer

Tay-Sachs disease

Answer

Sandhoff's disease

Answer

Fabry's disease

Question 9

Identify the gene commonly involved in the condition shown in the image?

Accepted Answer

BRAF V600E

Answer

RAS

Answer

RET

Answer

P53

Question 10

A 34-year-old female presented with low hemoglobin, platelet count of $25,000 / \mathrm{mm}^{3}$, raised PT and APTT. The image shows a peripheral smear. Which of the following fusion genes is affected?

Accepted Answer

PML-RARA

Answer

IGH-NSD2

Answer

INV 16

Answer

RUNX1-RUNX1T1

Hematopathology — MCQs

Hematopathology — MCQs

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