Anemia due to hereditary genetic mutation occurs in :

IGNOU PB Bsc Nsg.Entrance-2026

Pathology & Genetics

Easy

Appeared in: IGNOU PB Bsc Nsg.Entrance-2026

Explanation

Thalassemia is an inherited blood disorder characterized by the production of abnormal hemoglobin due to genetic mutations.
It is an autosomal recessive condition, meaning a child must inherit the defective gene from both parents to develop the severe form of the disease.
The genetic defect specifically affects the synthesis of alpha or beta globin chains, which are essential components of hemoglobin.
This leads to ineffective erythropoiesis and premature destruction of red blood cells, causing chronic anemia.

Option A: Megaloblastic anemia is primarily caused by nutritional deficiencies, specifically a lack of Vitamin B12 or folic acid, which are crucial for DNA synthesis and red blood cell maturation. It is not typically a hereditary genetic disorder.
Option B: Hemolytic anemia is a broad classification for anemias caused by the premature destruction of red blood cells. While it includes hereditary conditions like Thalassemia and Sickle Cell Anemia, it also encompasses many acquired causes (e.g., autoimmune disorders, infections, drug reactions). Thalassemia is a more specific and precise answer as it is exclusively a hereditary genetic disorder.
Option D: Polycythemia is a condition characterized by an abnormally high number of red blood cells in the blood. It is the opposite of anemia, which is defined by a deficiency of red blood cells or hemoglobin.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Etiology of different types of anemia as background academic context rather than a clinical decision trigger.
Understanding the genetic basis of anemia is crucial for nurses in patient education, particularly regarding family planning and genetic counseling for at-risk couples.
Nurses must be able to differentiate between types of anemia to provide appropriate care. For instance, treating Thalassemia involves blood transfusions and iron chelation, which is vastly different from the vitamin supplementation used for megaloblastic anemia.
What if? If a patient with a family history of Thalassemia presents with fatigue and pallor, the nurse should anticipate orders for a complete blood count (CBC) with differential, hemoglobin electrophoresis, and genetic testing, rather than just assuming iron deficiency.

How to Approach the Question

First, analyze the keywords in the question: "Anemia," "hereditary," and "genetic mutation." This directs you to look for a type of anemia that is inherited.
Evaluate each option based on its primary cause.
Option A, Megaloblastic anemia, is primarily nutritional (B12/folate deficiency). Eliminate this.
Option D, Polycythemia, is an excess of red blood cells, the opposite of anemia. Eliminate this.
Compare Option B (Hemolytic anemia) and Option C (Thalassemia). Hemolytic anemia is a broad category that includes both inherited and acquired causes. Thalassemia is a specific disease that is always caused by a hereditary genetic mutation.
Select the most specific and accurate answer. Since Thalassemia fits the description of a hereditary genetic anemia perfectly and is a more precise term than the broad category of hemolytic anemia, it is the best choice.

Concept Tested & Keywords

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E6 Physiology Essentials Sembulingam 10e Part 1 p. 104-106

E6 Pathology-Vandana Puri & Kavita Gaur Textbook of Pathology and Genetics p. 584-586