Archives: HCP Resource

Cystic fibrosis risk factors

Cystic Fibrosis Risk Factors

Cystic fibrosis (CF) is due to a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which results in dysfunction of the CFTR protein. The disease affects multiple organ systems, including the lungs, pancreas, upper airways, liver, intestine, and reproductive organs, with varying degrees of severity.1 Age More than 75% of cases of CF…

cystic fibrosis life expectancy

Cystic Fibrosis Life Expectancy

Cystic fibrosis (CF) is a rare genetic disorder affecting more than 30,000 individuals in the United States and 80,000 globally.1,2 The inheritance pattern is autosomal recessive. CF is characterized by the secretion of thick, viscous mucus, which accumulates and causes dysfunction in multiple organs, especially those of the gastrointestinal, pulmonary, and genitourinary systems.2 According to…

cystic fibrosis care team

Cystic Fibrosis Care Team

Cystic fibrosis (CF) is a genetic disease in which mutations in the cystic fibrosis transmembrane regulator (CFTR) gene lead to the formation of abnormal CFTR protein. Thick mucus accumulates in several organs, including the lungs and pancreas,1 blocking the airways and causing breathing problems. The thick mucus also causes intestinal obstruction and digestive difficulties as…

cystic fibrosis history

History of Cystic Fibrosis

Pre-1930s The very first description of a possible cystic fibrosis (CF) case was found in the medical literature in 1595 following the autopsy of a supposedly “bewitched” 11-year-old girl who had a “swollen hardened gleaming white pancreas” according to Pieter Pauw, Professor of Botany and Anatomy at Leiden (1564-1617).1  Delving further back into history, Busch…

Sickle Cell Disease Genetics

Sickle Cell Disease Genetics

Sickle cell disease (SCD) is caused by mutations in the HBB gene,1 which encodes for the beta chain of the adult hemoglobin protein (HbA). The mutated gene produces a defective beta-globin chain called hemoglobin S (HbS) that polymerizes and causes the deformation of red blood cells (RBCs) into a sickle shape, resulting in decreased RBC…

sickle cell disease clinical features

Sickle Cell Disease Clinical Features

Sickle cell disease (SCD), a genetic disorder with autosomal recessive inheritance, is a hemoglobinopathy caused by mutations in the gene that codes for the beta subunit of hemoglobin.1 As a result of the mutations, the form and function of the hemoglobin molecule change, causing red blood cells to take on a sickle shape.2 SCD manifests…

sickl cell disease clinical trials

Sickle Cell Disease Clinical Trials

While stifled for many decades, the clinical trials arena for sickle cell disease (SCD) is currently a rich field with many diverse trials. Novel drugs are being developed to reduce the number of vaso-occlusive events, meanwhile other trials are pursuing a cure with cutting-edge gene therapeutics. STAND Trial  The STAND trial is a phase III,…

sickle cell disease histology

Sickle Cell Disease Histology

Peripheral Blood Smear The normal morphology of red blood cells (RBCs) is a biconcave disc-shape that measures between 7-8 µm in diameter. RBCs have a central pallor that spans approximately one-third of the cells diameter and lack nuclei. Intra-cytoplasmic inclusions are not observed in the normal RBC.1 In SCD, RBCs appear abnormally sickle-shaped due to…