30 Questions
What is a recommended strategy to prevent illness in individuals with Sickle Cell Trait (SCT) during training or conditioning activities?
Setting your own pace and building your intensity slowly
What is the primary goal of treatment in Sickle Cell Disease (SCD)?
Symptom control and management of disease complications
At what stage should every child know their genotype, according to the primary prevention strategy?
Before entering primary school
What is a consequence of not managing Sickle Cell Disease (SCD) properly?
Inability to achieve one's potential
Why is it important to seek medical care immediately when feeling ill with Sickle Cell Disease (SCD)?
To avoid crisis and manage disease complications
How can individuals with Sickle Cell Trait (SCT) reduce their risk of illness during physical activities?
By drinking plenty of water and resting frequently
What is the primary reason for the significant declines in mortality rates in children with Sickle Cell Disease up to age 19?
Prophylactic treatment with penicillin and vaccinations
What is the purpose of transcranial doppler screening in children with Sickle Cell Disease?
To identify children at risk of stroke
Which age group has shown no significant decline in mortality rates for Sickle Cell Disease?
20-24
What is a potential strategy to reduce the SCD burden in Africa?
Establishing partnerships between high resource countries and countries in Africa
What is a key factor contributing to the increase in death rates for Sickle Cell Disease in older adults?
Increased risk of stroke
What is a potential benefit of newborn screening for Sickle Cell Disease in Africa?
Early diagnosis and treatment of SCD
What is the primary function of hemoglobin in the human body?
To allow red blood cells to carry oxygen to all parts of the body
What is the genetic composition of people with HbS beta 0-thalassemia?
They inherit one sickle cell gene and one beta thalassemia gene
What is the probability that a child will have SCD if both parents have SCT?
25% (or 1 in 4)
What is the result of the pathophysiology of SCD?
A rigid, sickle-like shape under certain circumstances
What is the name of the abnormal oxygencarrying protein found in red blood cells in people with SCD?
Haemoglobin S
What is the effect of low oxygen levels on red blood cells in people with SCD?
They become more rigid and take on a sickle-like shape
What is the approximate average cost in hospitalizations due to SCD in the United States from 1989 through 1993?
$475 million
What is the estimated number of babies born with severe forms of hemoglobinopathies worldwide each year?
300,000
What percentage of patients with SCD live in Sub-Saharan Africa?
75%
What is the average expenditure for children with SCD who had employer-sponsored insurance?
$14,772
At what age do SCD symptoms typically start manifesting?
6 months
What is one of the risk factors for SCD crises?
Increased pressure in the atmosphere
What is the average lifespan of sickle red cells?
20 days or less
What is the main cause of anemia in SCD?
Red cell destruction
What is the term for the abnormal adhesion of sickled RBCs to endothelium and macrophages?
Vaso-occlusion
What is the approximate percentage of US patients with the Sβ° thalassemia genotype?
2%
At what age do the effects of sickling start manifesting?
6 months
What is the term for the recurrent episodes of pain in SCD?
Recurrent vaso-occlusive pain
Study Notes
Sickle Cell Disease
- Sickle cell disease (SCD) is a major public health concern, with approximately 75,000 hospitalizations occurring in the United States from 1989 through 1993, costing around $475 million.
Changes in Life Expectancy
- Compared to 1979-1998, there were significant declines in mortality rates for children with SCD in 1999-2007, particularly in ages 0-4 and 5-19, due to prophylactic treatment with penicillin and vaccinations.
- There were no significant differences in mortality rates for the 20-24 age group, but an increase in death rates for ages 45-54, 55-65, and 65-75.
Sickle Red Cells
- Sickle red cells are sickle-shaped, rigid, and have a short lifespan of 20 days or less.
- They have a sticky surface, abnormal properties, and are prone to hemolysis and vaso-occlusion.
Hemolysis and Vaso-occlusion
- Hemolysis: anemia in SCD is caused by red cell destruction, leading to varying degrees of anemia.
- Vaso-occlusion: a complex process initiated by rigid and abnormally shaped sickled RBCs, leading to tissue damage, hypoxia, necrosis, and organ dysfunction.
Acute and Chronic Manifestations
- Acute manifestations:
- Bacterial sepsis or meningitis
- Recurrent vaso-occlusive pain (dactylitis, musculoskeletal or abdominal pain)
- Splenic sequestration
- Aplastic crisis
- Acute chest syndrome
- Stroke
- Priapism
- Hematuria, including papillary necrosis
- Chronic manifestations:
- Anemia
- Jaundice
- Splenomegaly
- Cardiomegaly and functional murmurs
- Hyposthenuria and enuresis
- Cholelithiasis
- Delayed growth and sexual maturation
- Restrictive lung disease
- Pulmonary hypertension
- Avascular necrosis
- Proliferative retinopathy
- Leg ulcers
- Transfusional hemosiderosis
Genotypes
- Sickle cell anemia (SS): the most severe form, affecting approximately 65% of US patients.
- Sickle/Hb C disease (SC): a lesser severity form, affecting around 25% of US patients.
- Sickle/Beta plus thalassemia (Sβ+ thalassemia): similar to SC, affecting around 8% of US patients.
- Sickle/Beta zero thalassemia (Sβ° thalassemia): similar to SS, affecting around 2% of US patients.
Effects of Sickling
- At birth, the child appears normal due to the presence of fetal hemoglobin.
- At 6 months, the effects of sickling start to manifest, leading to dactylitis.
Economic Costs
- Medical expenditures for children with SCD averaged $11,702 for children with Medicaid coverage and $14,772 for children with employer-sponsored insurance in 2005.
- Approximately 40% of both groups had at least one hospital stay.
Who is Affected
- Sickle cell disease is the most prevalent genetic disease in the World Health Organization's African Region.
- It is estimated that over 300,000 babies are born with severe forms of hemoglobinopathies worldwide each year.
- Nigeria alone accounts for more than 100,000 new births every year.
Inheritance
- Sickle cell disease is inherited, and if both parents have SCT, there is a 25% (or 1 in 4) chance that any child of theirs will have SCD.
Reducing the Burden
- Primordial prevention: making laws to ensure every child knows their genotype before entering primary school, secondary school, marriage, or starting a job.
- Primary prevention: early detection and treatment through screening.
- Secondary prevention: avoiding dehydration and getting too hot during training, and immediately seeking medical care when feeling ill.
- Tertiary prevention: managing the disease through symptom control and management of disease complications.
This quiz covers the basics of sickle cell disease, including its forms, genetics, and severity. It also touches on thalassemia, another type of anemia, and its relation to SCD.
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