Sickle Cell Disease Symptoms and Genetics

Questions and Answers

Pale skin, weakness, fatigue, and shortness of breath

Mutation in the HBB gene that codes for hemoglobin subunit beta

To diagnose and manage the disease early in life

To reduce the frequency and severity of pain episodes Signup and view all the answers

To prevent anemia Signup and view all the answers

Bone marrow transplant Signup and view all the answers

Acute chest syndrome Signup and view all the answers

Due to increased bilirubin levels Signup and view all the answers

To separate and identify different hemoglobin types Signup and view all the answers

To examine the shape of red blood cells Signup and view all the answers

Study Notes

Anemia: pale skin, weakness, fatigue, shortness of breath
Pain episodes (crises): acute, severe, and recurring pain in abdomen, chest, joints, or bones
Increased infections: pneumonia, meningitis, osteomyelitis
Delayed growth and development in children
Vision problems: retinopathy, blindness
Ulcers: painful sores on legs
Jaundice: yellowing of skin and eyes
Dark urine: increased bilirubin levels

Autosomal recessive disorder: inherited from parents
Mutation in HBB gene: codes for hemoglobin subunit beta
HbS gene: abnormal hemoglobin that causes sickling of red blood cells
Carrier frequency: 1 in 12 African Americans, 1 in 100 Hispanics, 1 in 500 Caucasians
Inheritance patterns:
- Two copies of HbS gene: sickle cell anemia
- One copy of HbS gene: sickle cell trait (carrier)
- No copies of HbS gene: no sickle cell anemia or trait

Pale skin, weakness, fatigue, and shortness of breath are symptoms of anemia
Acute, severe, and recurring pain in abdomen, chest, joints, or bones occurs during pain episodes (crises)
Increased risk of infections, such as pneumonia, meningitis, and osteomyelitis
Delayed growth and development are common in children with sickle cell anemia
Vision problems include retinopathy and blindness
Painful sores on legs are a common symptom of ulcers
Yellowing of skin and eyes (jaundice) and dark urine are signs of increased bilirubin levels

Sickle cell anemia is an autosomal recessive disorder, inherited from parents
A mutation in the HBB gene, which codes for hemoglobin subunit beta, causes the condition
The HbS gene leads to abnormal hemoglobin production, causing sickling of red blood cells
Carrier frequency varies among populations: 1 in 12 African Americans, 1 in 100 Hispanics, and 1 in 500 Caucasians
Inheritance patterns determine the likelihood of developing sickle cell anemia or being a carrier

Newborn screening is mandatory in many countries to detect sickle cell anemia
Hemoglobin electrophoresis separates hemoglobin types to identify abnormal hemoglobin
High-performance liquid chromatography (HPLC) measures hemoglobin levels
Molecular genetic testing detects HBB gene mutations
Peripheral blood smear examines red blood cell shape to identify sickling

Acute chest syndrome is a respiratory failure complication
Children are at increased risk of stroke
Pulmonary hypertension leads to high blood pressure in lungs
Kidney damage increases the risk of kidney failure
Gallstones are a common complication due to increased bilirubin levels
Priapism is a painful, prolonged erection that can occur
Increased risk of infections, such as pneumonia, meningitis, and osteomyelitis, is a common complication