UP NHM CHO 7 Sept 2022(shift-1st)
Obstetrics & Gynaecology
Hard
Which of the following maternal haemoglobinopathies causes non-immune foetal hydrops?
Appeared in: UP NHM CHO 7 Sept 2022(shift-1st)
Explanation
- α-Thalassemia major is caused by the deletion of all four alpha-globin genes.
- The absence of alpha-globin chains leads to the formation of abnormal Hemoglobin Bart's (γ₄ tetramers) in the fetus.
- Hb Bart's has an extremely high oxygen affinity, preventing oxygen release to fetal tissues.
- This severe tissue hypoxia results in high-output heart failure and non-immune hydrops fetalis, which is incompatible with life.
Why Other Options Were Wrong
- Option A: β-Thalassemia minor affects the beta-globin chain. Fetal hemoglobin (HbF) is composed of alpha and gamma chains (α₂γ₂), so a defect in beta chains does not cause hydrops fetalis.
- Option B: α-Thalassemia minor involves the deletion of one or two alpha-globin genes. This results in mild, often asymptomatic anemia and is not severe enough to cause hydrops fetalis.
- Option C: β-Thalassemia major affects beta-globin chains. Problems arise after birth when hemoglobin production switches from fetal (HbF) to adult (HbA, α₂β₂). It causes severe postnatal anemia but not fetal hydrops.
Related Visual
Clinical Relevance
- Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain Pathophysiology of Thalassemia and its impact on fetal development as background academic context rather than a clinical decision trigger.
- Understanding the genetic basis of thalassemias is crucial for prenatal counseling, especially in high-prevalence communities (e.g., Southeast Asia, Mediterranean).
- Nurses play a key role in identifying at-risk couples through family history and offering genetic screening.
- Prenatal diagnosis via chorionic villus sampling or amniocentesis can detect α-thalassemia major, allowing parents to make informed decisions.
How to Approach the Question
- First, identify the key concepts in the question: 'maternal haemoglobinopathies' and 'non-immune foetal hydrops'.
- Recall the two main types of thalassemia: alpha (α) and beta (β), and that they are quantitative defects in globin chain synthesis.
- Differentiate their impact based on fetal vs. adult hemoglobin. Fetal hemoglobin (HbF) is α₂γ₂, while adult hemoglobin (HbA) is α₂β₂.
- Analyze the options: A defect in β-chains (β-thalassemia) will primarily cause problems after birth when HbA production is dominant. A defect in α-chains will affect the fetus because α-chains are needed for HbF.
- Consider the severity. 'Minor' forms are less severe than 'major' forms. Hydrops fetalis is a very severe condition.
- Conclude that the most severe form of α-thalassemia (major) is the only one capable of causing a fatal condition like hydrops fetalis in utero.
Concept Tested & Keywords
- Concept Tested: Pathophysiology of Thalassemia and its impact on fetal development.
- Stem keywords: maternal haemoglobinopathies, non-immune foetal hydrops
- Lead-in keywords: Which
- Negative lead-in flag: false
Question ID
Qrggqq-5JybfAtnrvS7g6r
Reference Book
E6 PATHOLOGY QUICK REVIEWBased on Harsh Mohan Textbook of PATHOLOGY pp. 110-112, 109-111
Practise the full UP NHM CHO 7 Sept 2022(shift-1st)
Attempt every question from this paper in a timed mock, then review the full solution for each one.
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