Beta-thalassemia is an autosomal recessive disorder. It is characterised by reduced haemoglobin levels in the body and is also known as:

Appeared in: AIIMS Jodhpur SNO-2023

Explanation

Cooley's anaemia is the specific eponym for beta-thalassemia major, the most severe form of the disorder.
This condition is characterized by a severe deficiency or complete absence of beta-globin chain synthesis, leading to profound microcytic, hypochromic anemia.
It becomes clinically apparent within the first 6 to 24 months of life as fetal hemoglobin (HbF) production declines and is replaced by defective adult hemoglobin (HbA).
The name honors Dr. Thomas Cooley, who first described the condition in 1925.

Option A: Aplastic anaemia is a condition of bone marrow failure, leading to pancytopenia (a deficiency of all blood cell types). It is not a specific defect in globin chain synthesis.
Option B: Sickle cell anaemia is a qualitative hemoglobinopathy caused by the HbS mutation, which alters the shape of red blood cells. Thalassemia is a quantitative disorder affecting the amount of globin produced.
Option D: This is a broad category of diseases where red blood cells are destroyed prematurely. While beta-thalassemia is a type of hemolytic anemia, 'Cooley's anaemia' is the specific synonym for the severe form, making it the more precise answer.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Synonyms and classification of Beta-Thalassemia as background academic context rather than a clinical decision trigger.
Nurses play a vital role in managing patients with Cooley's anemia, which includes administering regular blood transfusions and chelation therapy to manage the resulting iron overload (hemosiderosis).
Patient and family education is critical, focusing on genetic counseling, recognizing signs of complications (e.g., iron overload affecting the heart and liver), and the importance of lifelong, multidisciplinary follow-up.
Monitoring for growth retardation, delayed puberty, and bone deformities (due to bone marrow expansion) is a key aspect of pediatric nursing care for these patients.

How to Approach the Question

First, identify the core subject of the question: Beta-thalassemia, an autosomal recessive disorder.
The question asks for a synonym ('also known as'). This indicates you need to recall a specific name associated with the condition.
Analyze the options. Aplastic anaemia and sickle cell anaemia are distinct hematological disorders with different pathophysiologies, making them unlikely synonyms.
Consider 'haemolytic anaemia'. While thalassemia does cause hemolysis, this is a broad classification, not a specific name. The question seeks a more precise synonym.
Recall or deduce that 'Cooley's anaemia' is the historical eponym for the most severe form, beta-thalassemia major, making it the best and most specific answer.

Concept Tested & Keywords

Concept Tested: Synonyms and classification of Beta-Thalassemia
Stem keywords: Beta-thalassemia, autosomal recessive disorder, reduced haemoglobin
Lead-in keywords: also known as
Negative lead-in flag: false

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E6 PATHOLOGY QUICK REVIEWBased on Harsh Mohan Textbook of PATHOLOGY p. 110-112

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