Haematopathology: Understanding Thalassemia

What is the most common type of normal hemoglobin?

What is the characteristic feature of a normal blood film in thalassemia minor?

What is the diagnostic test for beta-thalassemia minor based on?

What is the structure of fetal hemoglobin (Hb F)?

What is the expected reticulocyte count in cases of Hb F present in 85% of cases?

What is the normal range of Hb A2, and how is it altered in beta-thalassemia minor?

What is the clinical significance of Alpha thalassemias compared to Beta thalassemia?

What is the clinical phenotype of Alpha thalassemia with no alpha genes (α o α o)?

Which region is Hemoglobin H disease common in?

What is the only clinical phenotype of alpha thalassemia of clinical significance?

What is the clinical feature most unusual to see in individuals with Hemoglobin H disease?

What is the blood picture and clinical presentation of Thalassaemia Intermedia?

What is the first step recommended for Thalassaemia prevention?

What follows the identification of couples at risk of bearing affected children through premarital screening?

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.