Archives: Disease Info Pages

sickle cell disease comorbidities

Comorbidities of Sickle Cell Disease

Sickle cell disease (SCD) is a group of inherited disorders affecting red blood cell (RBC) morphology and oxygen transport function. Due to the abnormal sickle shape of RBCs, SCD causes serious problems such as occlusion of blood flow, organ damage, and pain crises.1 Many comorbidities of SCD are complications associated with the disease itself, which…

sickle cell disease prognosis

Sickle Cell Disease Prognosis

Sickle cell disease (SCD) is a pediatric disease that is fatal in countries that do not have access to comprehensive care for patients with this disease and do not practice newborn screening (NBS). In the United States, the all-cause rates of death due to SCD in Black children from 1983 through 2002 were 0.78 in…

sickle cell disease patient education

Sickle Cell Disease Patient Education

Sickle cell disease (SCD) comprises a group of inherited blood disorders in which the red blood cells of an affected individual become inflexible, sticky, and abnormally shaped like a sickle, a crescent-shaped farm tool. The life span of the sickle-shaped red blood cells is shorter than normal, resulting in anemia, a deficiency of red blood…

sickle cell disease testing

Sickle Cell Disease Testing

Sickle cell disease (SCD) is an autosomal recessive condition encompassing several abnormalities of the beta-globin gene. Patients are either homozygous for hemoglobin S (HbS; βS/βS) or have compound heterozygosity with a βS allele plus another mutant beta-globin gene, such as thalassemia (eg, βS/β0). The abnormal HbS is less hydrophilic than normal adult hemoglobin (HbA) and…

sickle cell disease complicatios

Sickle Cell Disease Complications

Sickle cell disease (SCD) has presented with both acute and chronic complications throughout the disease’s natural history.  Acute Complications Infections – Vaso-occlusive phenomena are a hallmark of SCD. These events occur early in the spleen and lead to progressive atrophy of the organ. Splenic function deteriorates as early as 6 months of age and eventually…

sickle cell disease sickle cell disease Epidemiology

Sickle Cell Disease Epidemiology

A recent study in 2018 disclosed with a high degree of certainty that the point mutation responsible for sickle cell disease (SCD) was a singular event that occurred somewhere in West or Central Africa. This event conferred an evolutionary advantage to that individual, rendering them more resistant to malaria and thus favored the propagation of…

sickle cell disease etiology

Sickle Cell Disease Etiology

Sickle cell disease (SCD) is a common hereditary hemoglobinopathy resulting from a point mutation in the gene that codes for the beta subunit of hemoglobin, located on chromosome 11. When deoxygenated, the abnormal hemoglobin S (HbS) molecules polymerize, causing the red cells to assume a sickle shape. Episodes of hemolytic anemia, microvascular blockage, and ischemic…

Sickle cell disease

Sickle Cell Disease Overview

Sickle cell disease (SCD) is an autosomal recessive disease and the most common genetic disease in the United States, predominantly affecting African Americans at a rate of approximately 1 in 500. One in 12 African Americans carry the recessive gene mutation, and around 300,000 infants are born with the disease each year.3   The first case…

NMOSD Guidelines

Neuromyelitis Optica Spectrum Disorder Guideline Recommendations

Neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disorder characterized by inflammation and demyelination of nerves in the central nervous system (CNS), especially the optic nerves and spinal cord. It manifests as episodic flare-ups of optic neuritis and longitudinally extensive transverse myelitis.1  In 2006, after subject matter experts gathered to review the various criteria…

NMOSD Complications

Neuromyelitis Optica Spectrum Disorder Complications

Neuromyelitis optica spectrum disorder (NMOSD) is a central nervous system (CNS) inflammatory disorder caused by an immune response. It is identified by coexistent inflammation and demyelination of the optic nerve and spinal cord, causing optic neuritis and myelitis, respectively. Several studies have found that the prevalence and clinical and demographic characteristics of the disease vary…