Nik Fatma Fairuz Nik Mohd Hasan
YOU?
Author Swipe
View article: Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel <i>SUPT5H</i> Variants
Unusual Causes of β Thalassemia Trait: Discovery of another Three Novel <i>SUPT5H</i> Variants Open
Beta (β) thalassemia is an inherited disorder that occurs following mutations or deletions in the β globin gene. Rarely, it is caused by variants in genes coding for erythroid transcriptional factors or trans-acting factors. Here, we repor…
View article: Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test
Alpha Thalassemia Screening in Multiethnic Population in Northern Europe Using Hb Bart's Immunochromatographic Test Open
Genetics of disease, diagnosis and treatment
View article: Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia Open
It is well known that modifiers play a role in ameliorating or exacerbating disease phenotypes in patients and carriers of recessively inherited disorders such as sickle cell disease and thalassemia. Here, we give an overview of the litera…