Beta 0 thalassemia trait in Sardinia.

Area of Science:

• Hematology
• Genetics
• Molecular Biology

Background:

• Beta thalassemia is a genetic blood disorder affecting hemoglobin production.
• Carrier identification is crucial for genetic counseling and disease prevention.
• Understanding carrier hematological profiles aids in accurate diagnosis.

Purpose of the Study:

• To compare red cell indices and globin chain synthesis in obligate beta 0 thalassemia carriers versus those identified through mass screening.
• To evaluate the diagnostic accuracy of various hematological parameters for beta thalassemia carrier detection.
• To investigate the incidence of anemia in different carrier groups.

Main Methods:

• Analysis of red cell indices (MCV, MCH) and osmotic fragility tests (OFT).
• Assessment of globin chain synthesis and Hb A2 levels.
• Application of the Shine and Lal discriminant function for carrier identification.

Main Results:

• Red cell indices were similar between obligate beta 0 thalassemia carriers and mass-screened carriers.
• A higher incidence of anemia was observed in female obligate beta 0 thalassemia carriers.
• False negative rates for carrier identification varied: MCV (3.5%), MCH (1.5%), OFT (3.5%), and Shine and Lal function (4.0%).
• Elevated Hb A2 levels were present in most obligate carriers; 30% had Hb F > 1%.

Conclusions:

• Hematological characteristics of beta 0 thalassemia carriers in Sardinia align with typical high Hb A2 beta thalassemia carriers.
• Standard red cell indices and diagnostic functions have limitations, leading to false negatives in carrier detection.
• Further refinement of diagnostic methods is needed for accurate beta thalassemia carrier identification, especially in specific populations.