• Formation of blood
– Adults: In red bone marrow of sternum, ribs, vertebrae and pelvic bone.
– Fetus: In spleen and liver.
• Normal life span of RBC is 120 days
– Iron containing pigment of RBC, transports Oxygen from lungs to tissues and Carbon dioxide from tissues back to lungs.
• Bilirubin: Results from destruction of RBC. A product of decomposition of Hb.
Hb A Normal adult hemoglobin
Hb F Fetal Hb up to 6 months after birth
Hb A1C Glycosylated Hb. Shows if the glucose level of a diabetic patient on insulin has been regulated for a period of up to 90 days.
Hb S Abnormal Hb found in Sickle cell anemia. Shape becomes sickled in adverse conditions. In the β-chain glutamic acid is replaced with valine.
Hb C Abnormal hemoglobin which result in chronic hemolytic anemia. In the β-chain glutamic acid is replaced with lysine.
Hb E Abnormal hemoglobin which result in a mild form of hemolytic anemia
Hb M Abnormal hemoglobin with poor Oxygen carrying capacity, which result in congenital cyanosis.
• Due to the presence of abnormally shaped RBCs. Autosomal recessive inherited disorder of Hb associated with chain of Hb. It is a defect in the amino acid sequence where glutamic acid is replaced with valine. RBCs become sickled (crescent shaped) in adverse conditions – hypoxia, dehydration, infection
• Sickled RBCs can not move freely through the small capillaries leading to capillary occlusion and blood stasis leading to further hypoxia and sickling.
• A sickle cell crisis occurs.
• The disease is not present in infants below 6 months due to the presence of fetal Hb
Pattern of inheritance of sickle cell anemia
• Heart : Cardiomegaly from chronic anemia, murmurs, cardiac failure
• Lungs: Pulm. vessels occluded by sickled RBC or embolus, resp distress, pneumonia
• Spleen: Enlarged spleen from engorged sickled RBC, splenic rupture with massive hemorrhage, eventually fibrosis and atrophy
• Liver: Progressive impairment, hepatomegaly, tenderness, jaundice, gall stones, cirrhosis
• Kidneys: Impaired renal function from glomerular tubular necrosis and fibrosis, hematuria, nephrotic syndrome
• CNS: Infarction of CNS, stroke, peripheral vascular occlusion of retina, retinal detachment, meningitis
• Skeletal: Infarction of bone and bone marrow, Hand and foot syndrome, delayed closure of epiphyses, osteomyelitis, chronic leg ulcers, Lordosis, kyphosis
• Homogenous form of the disease
• Sickle cell trait for parents
• Bone aches
• Abdominal Pain
• Sickle cell crisis
• Sickle cell trait — good
• Sickle cell disease — Infection is a common cause of death. Also from cardiac, hepatic or renal failure
– Pain relief using narcotics
– Oxygen administration
– Treatment of infections
– Blood transfusion
– Genetic counseling
• High risk for ineffective tissue perfusion R/T infarcts due to sickling.
• Altered health maintenance R/T lack of knowledge regarding long term care.
• Altered family process R/T having a child with potentially life threatening disease.
• Regular follow up visits.
• Avoid strenuous activities.
• Protect from hypoxia – avoid mountain climbing, travel in unpressurized plains, under water swimming.
• Promote hydration – oral intake, observe for signs of dehydration, avoid extremes of climates.
• Prevent infections – adequate nutrition, rest, good hygiene, immunization.
• Avoid exposure to infections
• Pain management – inform doctor about child’s condition, liberal use of drugs round the clock, Use hot compresses and avoid cold compresses.