Swee Lay Thein

TL;DR: This study is the first description of the structure and location of the P5'N-1 gene, and 3 mutations have been identified in affected patients from separate kindreds.

TL;DR: Ten patients with sickle cell (SS) disease from a Jamaican family were found to have unusually high levels of haemoglobin F for this population, and genetic analysis of the family suggests that there is a determinant linked to the β‐globin gene cluster, characterized by this haplotype, which is responsible for increased haemochemistry F production in response to anaemia.

TL;DR: In this article, a review summarizes recent genetic studies and key genetic modifiers identified and traces the story of fetal hemoglobin genetics, which has led to an emerging network of globin gene regulation.

TL;DR: Alongside the invasive treatment regimes, it is important to remember that renal failure in conjunction with sickle cell disease does carry a significant burden of morbidity and that focusing on symptom control has to be central to good patient care.

TL;DR: The purpose of this review is to assess current understanding of the molecular basis for the pathophysiology underlying this subgroup of b thalassaemias in the light of the numerous mutations affecting the b-globin gene and to make a case for the dominantly inherited b thAlassaemic haemoglobinopathies being a phenotypic class of their own.