Sickle Cell Disease CCL LO's

What is the inheritance pattern of abnormal hemoglobins?

All abnormal hemoglobins are autosomal recessive.

List the major abnormal hemoglobin genotypes and their meanings

Hb SS, Hb SBthal0 (no β‑globin), Hb SBthal+ (reduced β‑globin), Hb SC (milder sickle cell disease), Hb SA (sickle cell trait).

What diagnostic tests are used for sickle cell disease?

CBC with differential, RDW, MCV, reticulocyte count, LDH, total and direct bilirubin, RBC morphology (sickling, polychromasia), sickle cell screen, hemoglobin electrophoresis.

List bone complications of Hb SS.

Pain crises, avascular necrosis, bone marrow infarction, osteomyelitis.

List lung complications of Hb SS.

Pulmonary hypertension, acute chest syndrome, acute pain events.

List brain complications of Hb SS.

Neurocognitive dysfunction, meningitis, stroke.

List eye complications of Hb SS.

Retinopathy, post‑hyphema glaucoma, retinal infarction.

List standard‑of‑care medications for sickle cell disease by age.

Hydroxyurea(6-9mo old), L-glutamine(5yo), Gene therapy (exagamglogene autotemcel=>12yr+), Crizanlizumab (16yr+)

Describe the mechanism of action of hydroxyurea in sickle cell disease.

Ribonucleotide reductase inhibitor → induces stressed erythropoiesis → increases HbF → reduces HbS polymerization and sickling.

What are toxicities of hydroxyurea?

Teratogenicity and infertility.

What are contraindications to hydroxyurea?

Hypersensitivity, GFR <30, pregnancy, breastfeeding.

What are the nutritional requirements for patients with sickle cell disease?

High calories and protein, Folate, B12, vitamin D, Zinc, Magnesium, Iron

Describe amenorrhea in sickle cell disease.

Chronic anemia, systemic inflammation, and physiologic stress can delay puberty and cause amenorrhea.

List pregnancy‑related complications in sickle cell disease.

Acute anemia, painful crises, stroke, acute chest syndrome, avascular necrosis, infections, miscarriage, preterm labor, IUGR, preeclampsia, fetal distress.

Describe the molecular mechanism of sickle cell disease.

Deoxygenated HbS polymerizes → RBC becomes rigid and sickle‑shaped → vaso‑occlusion and hemolysis.