Carrier screening thalassemia

Related family members with elevated HbA2

In carrier screening for the classical beta-thalassemia trait, the hallmark is the presence of an elevated level of HbA2. Once an index carrier is identified, the family members can be screened (cascade screening) with spectrometry and high-performance liquid chromatography (HPLC). This procedure necessitates the accurate estimation of Hb A2 (α2δ2).

Another way of identifying people with thalassemia major is neonatal screening.

Last modified
29 December 2018

Aim to identify people without symptoms who carrier a genetic condition, so that these individuals can be informed about their health and reproductive risk. This is called cascade screening, which...

Rare Condition

Thalassemia major or Beta Thalassemia

The thalassemias are a group of genetically (inherited) blood disorders that share in common one feature; the defective production of hemoglobin which is the protein...


Medical treatment hemoglobinopathy

Increased expression of fetal hemoglobin (HbF) may...