14 Questions
What is the most common type of normal hemoglobin?
Hb A: α2 β2
What is the characteristic feature of a normal blood film in thalassemia minor?
Slight hypochromia and anisocytosis
What is the diagnostic test for beta-thalassemia minor based on?
Increased Hb A2 levels
What is the structure of fetal hemoglobin (Hb F)?
α2 γ2
What is the expected reticulocyte count in cases of Hb F present in 85% of cases?
Slightly increased or normal reticulocyte count
What is the normal range of Hb A2, and how is it altered in beta-thalassemia minor?
Normal range 1.8-3.5%, decreased in beta-thalassemia minor
What is the clinical significance of Alpha thalassemias compared to Beta thalassemia?
They are of much less clinical significance
What is the clinical phenotype of Alpha thalassemia with no alpha genes (α o α o)?
Incompatible with life
Which region is Hemoglobin H disease common in?
Southeast Asia
What is the only clinical phenotype of alpha thalassemia of clinical significance?
Hemoglobin H disease
What is the clinical feature most unusual to see in individuals with Hemoglobin H disease?
Severe thalassemic skeletal changes
What is the blood picture and clinical presentation of Thalassaemia Intermedia?
Wide clinical spectrum, unlike TM, which presents with severe anaemia requiring frequent blood transfusions
What is the first step recommended for Thalassaemia prevention?
Premarital Screen
What follows the identification of couples at risk of bearing affected children through premarital screening?
Estimation of HbA2 and HbF levels, in addition to sickling test
Study Notes
Hemoglobin
- The most common type of normal hemoglobin is Hb A.
Thalassemia Minor
- A normal blood film in thalassemia minor is characterized by microcytic hypochromic red blood cells.
- The diagnostic test for beta-thalassemia minor is based on elevated levels of Hb A2.
Fetal Hemoglobin (Hb F)
- The structure of fetal hemoglobin (Hb F) is α2γ2.
- In cases where Hb F is present in 85% of cases, the expected reticulocyte count is low.
Hemoglobin A2 (Hb A2)
- The normal range of Hb A2 is 2-3.5%.
- In beta-thalassemia minor, the level of Hb A2 is increased.
Alpha Thalassemias vs Beta Thalassemia
- Alpha thalassemias are generally less severe than Beta thalassemia clinically.
Alpha Thalassemia
- In individuals with Alpha thalassemia with no alpha genes (α o α o), the clinical phenotype is hydrops fetalis, which is usually lethal.
- Hemoglobin H disease is common in Southeast Asia.
- The only clinical phenotype of alpha thalassemia of clinical significance is Hemoglobin H disease.
- In individuals with Hemoglobin H disease, the clinical feature most unusual to see is a high reticulocyte count.
Thalassemia Intermedia
- The blood picture and clinical presentation of Thalassaemia Intermedia include moderate to severe anemia, jaundice, and splenomegaly.
Thalassaemia Prevention
- The first step recommended for Thalassaemia prevention is premarital screening.
- Following the identification of couples at risk of bearing affected children through premarital screening, genetic counseling and testing are recommended.
This quiz covers the structure and function of Hb, pathophysiology of thalassemia, different phenotypes, genetic mutations, and laboratory diagnosis. It is designed to enhance understanding of thalassemia for medical students and professionals.
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