Thalassemia Reports, Volume 3, Issue 1

In patients with β-thalassemia iron overload that leads to damage to vital organs is observed. Glutathione S transferase (GST) enzymes have an antioxidant role in detoxification processes of toxic substances. This role is determined genetically. In t...

The effect of splenectomy on pulmonary function test (PFT) and pulmonary hypertension (PH) in thalassemia remains unclear. We aimed to investigate PFT and their association with PH in patients with hemoglobin E/β-thalassemia stratified by their splen...

Hemoglobinopathies are the most common genetic disorders in Turkey. The incidence of beta thalassemia and sickle cell trait (HbAS) is 2.0% and 0.3% respectively. In addition to HbS, 51 abnormal hemoglobins and 42 different beta thalassemia mutations...

The current work focuses on two rare hemoglobin (Hb) variants - Hb Grange-Blanche and Hb Hofu - found for the first time in association with α-thalassemia in Eastern India. The unusual case of Hb Grange-Blanche and FS 41/42(-CTTT) mutations in cis th...

We report a rare a1 globin gene variant (Hb Interlaken) found in a 63-year-old woman of Italian ancestry living in Buenos Aires Province, Argentina. The variant, a missense mutation at cd15 (GGT → GAT) causing a Gly → Asp amino acid substitution and...

Comprehensive management of thalassemia demands a multidisciplinary approach, sufficient financial resources, carefully developed expertise of the care givers, as well as significant compliance on the patients’ part. Studies exploring the utility of...