UPSC-CMS 2025 - Pathology Practice Questions

Q: Which of the following hematological findings are seen in pregnant women with thalassemia trait?

Raised HbA₂ and low MCV. ***Raised HbA₂ and low MCV*** - Beta-thalassemia trait is characterized by a **compensatory increase in HbA₂** (alpha2-delta2 globin chains) synthesis and **microcytic (low MCV)** red blood cells [1]. - This combination is a classic finding that helps differentiate thalassemia trait from iron deficiency anemia in pregnant women. *Low serum total iron binding capacity* - **Low total iron binding capacity (TIBC)** is typically seen in **anemia of chronic disease**, where iron stores are often adequate or high. - In thalassemia trait, iron stores are usually normal or increased, and TIBC is usually normal or slightly increased. *Low HbA₂ and raised MCV* - **Low HbA₂** is seen in alpha-thalassemia trait or iron deficiency anemia, not beta-thalassemia trait [2]. - **Raised MCV (macrocytosis)** is characteristic of conditions like **folate or B12 deficiency** or megaloblastic anemia, which is not associated with uncomplicated thalassemia trait [1]. *Low MCHC* - **Low MCHC (mean corpuscular hemoglobin concentration)** indicates hypochromic red blood cells and is found in various microcytic anemias, including **iron deficiency anemia** [1]. - While it can be present in thalassemia trait, it is not as specific as the combination of **raised HbA₂** and **low MCV** for distinguishing beta-thalassemia trait from other microcytic conditions [2]. **References:** [1] Cross SS. Underwood's Pathology: A Clinical Approach. 6th ed. Common Clinical Problems From Blood And Bone Marrow Disease, pp. 588-591. [2] Kumar V, Abbas AK, et al.. Robbins and Cotran Pathologic Basis of Disease. 9th ed. Red Blood Cell and Bleeding Disorders, pp. 649-650.

Q: Which of the following conditions CAN BE transmitted as a recessive, sex-linked trait? I. Retinitis pigmentosa II. Colour blindness III. Cystic fibrosis IV. Duchenne muscular dystrophy Select the correct answer using the code given below :

I, II and IV. ***I, II and IV*** - All three conditions listed—**Retinitis Pigmentosa**, **Colour Blindness**, and **Duchenne Muscular Dystrophy**—can be inherited as recessive, **sex-linked traits**. - **Sex-linked inheritance** primarily refers to genes located on the **X chromosome**; males are more frequently affected because they have only one X chromosome. *II, III and IV* - This option incorrectly includes **Cystic Fibrosis**, which is an **autosomal recessive disorder**, not a sex-linked trait. - While **Colour Blindness** and **Duchenne Muscular Dystrophy** are sex-linked, their grouping with an autosomal condition makes this option incorrect. *I, II and III* - This option also incorrectly includes **Cystic Fibrosis** as a sex-linked trait. - **Retinitis Pigmentosa** and **Colour Blindness** can be sex-linked, but the inclusion of **Cystic Fibrosis** renders the entire option incorrect. *I, III and IV* - This option incorrectly includes **Cystic Fibrosis**; it is an **autosomal recessive condition**, not sex-linked. - Although **Retinitis Pigmentosa** and **Duchenne Muscular Dystrophy** are correctly identified as conditions that can be sex-linked, the incorrect inclusion of **Cystic Fibrosis** makes this option wrong.

Question 1

Which of the following hematological findings are seen in pregnant women with thalassemia trait?

Accepted Answer

Raised HbA₂ and low MCV

Answer

Low serum total iron binding capacity

Answer

Low MCHC

Answer

Low HbA₂ and raised MCV

Question 2

Which of the following conditions CAN BE transmitted as a recessive, sex-linked trait?
I. Retinitis pigmentosa
II. Colour blindness
III. Cystic fibrosis
IV. Duchenne muscular dystrophy

Select the correct answer using the code given below :

Accepted Answer

I, II and IV

Answer

II, III and IV

Answer

I, II and III

Answer

I, III and IV

UPSC-CMS 2025 — Pathology