SCA

SCD & The Mitochondrion

SCD Inheritance Pattern

A 3D rendering of mitochondria (red) inside a sickled RBC

Sickle Cell Disease

Info

Info

SCD Day June 19th

SCD Symptoms & Treatments

The Genetics Behind SCD

SCD Statistics

Dr. KT Lemon

Info

Sickle Cell Disease (SCD)

Sickle cell disease is a group of disorders that affect the hemoglobin including:

• Hemoglobin SS (HbSS) disease
• Hemoglobin SB+ (beta) thalassemia
• Hemoglobin SB0 (beta-zero) thalassemia
• Hemoglobin SC disease
• Hemoglobin SD disease
• Hemoglobin SE disease
• Hemoglobin SO disease

• Hemoglobin is the protein that carries oxygen in RBCs
• It has four subnits, two alpha chains and two beta chains

SCD & Mitochondria

Mitochondria are responsible for cellular energy production.

Normally, mitochondria are lost when RBCs mature. In patients who have SCD, mature RBCs maintain their mitochondria.

The Genetics Behind SCD

Effects of the Mutation

• The RBCs become sickled
• The sickle cells
• block blood flow
• die early, leading to anemia

• shortness of breath
• fatigue
• delayed growth and development

• The single nucleotide change causes the production of valine, a hydrophobic amino acid, thereby changing the function of the hemoglobin Beta protein

The Inheritance Pattern of SCD

• Autosomal recessive pattern
• Two bad copies of the hemoglobin S are needed for an individual to develop SCD
• An individual with hemoglobin S and A are considered carriers of the SCD trait