Sickle Cell Disease

Sickle Cell Disease (Sickle Cell Anemia)

- is a severe, chronic, hemolytic anemia occurring in persons who inherited the sickle hemoglobin gene - the sickle hemoglobin (Hbs) acquires a crystal like formation when exposed to low oxygen tension, especially in the venous blood; consequently, the RBC containing Hbs loses its round, very pliable, biconcave disk shaped becomes deformed, rigid and sickle shaped

- the sickling process takes time, if the RBC is exposed again to adequate amounts of oxygen before the membrane becomes too rigid, it can revert to a normal shape. Hence, the sickling crisis is intermittent. - the long, rigid RBCs can adhere to the endothelium of small vessels; piling up against each other, reducing blood flow to a region or an organ.

- sickle cell hemoglobin aggregates into elongated crystals under conditions of low oxygen concentration, dehydration. -sickled RBCs are fragile and are rapidly destroyed in the circulation, they live 6 to 20 days, against 120 days for normal RBCs - anemia results when the rate of destruction of RBC is greater that the rate of production - increased sequestration of RBC occurs in the spleen causing splenomegaly

Inheritance

Sickle-cell conditions are inherited from parents in much the same way as blood type, hair color and texture, eye color, and other physical traits. The types of hemoglobin a person makes in the red blood cells depend upon what hemoglobin genes are inherited from his parents. 1. If one parent has sickle-cell anemia (SS) and the other has sickle-cell trait (AS), there is a 50% chance (or 1 out of 2) of a child's having sickle-cell disease (SS) and a 50% chance of a child's having sickle-cell trait (AS). 2. When both parents have sickle-cell trait (AS), they have a 25% chance (1 of 4) of a child's having sickle-cell disease (SS).

Transmission of Sickle Cell Disease

Genotype of Parents 1 parent with trait Normal Trait 50% 50% Disease 0

Both parents with trait 1 parent with trait; 1 parent with disease Both parents with disease

25%
0 0

50%
50% 0

25%
50% 100%

Clinical Manifestations
- neonates are asymptomatic related to increased amounts of fetal hemoglobin; until late in the first year of life. - clinical manifestations are sporadic, periods of crisis occur at variable intervals, and somewhat based on the amount of Hbs (sickled hemoglobin)

- signs of anemia :hemoglobin 6g/dL to 10 g/dL :loss of appetite :paleness :weakness :irritability :jaundice - Bone marrow expands in childhood, sometimes leading to enlargement of the bones of the face and the skull

Precipitating Factors of Crisis

-dehydration -infection -trauma -strenuous physical exertion and extreme fatigue -cold exposure -hypoxia

Complications
Sickle-cell anemia can lead to various complications, including:

Overwhelming post-(auto)splenectomy infection (OPSI), which is due to functional asplenia, caused by encapsulated organisms such as Streptococcus pneumoniae and

Haemophilus influenzae

- Daily penicillin prophylaxis is the most commonly-used treatment during childhood, with some hematologists continuing treatment indefinitely. Patients benefit today from routine vaccination for H. influenzae, S. pneumoniae, and Neisseria meningitidis

Stroke, which can result from a progressive vascular narrowing of blood vessels, preventing oxygen from reaching the brain. - Cerebral infarction occurs in children, and cerebral hemorrhage in adults. Cholelithiasis (gallstones) and cholecystitis, which may result from excessive bilirubin production and precipitation due to prolonged hemolysis

Avascular necrosis (aseptic bone necrosis) of the hip and other major joints, which may occur as a result of ischemia. Decreased immune reactions due to hyposplenism (malfunctioning of the spleen). Priapism and infarction of the penis. Osteomyelitis (bacterial bone infection), which is most frequently caused by Salmonella in individuals with sickle-cell disease, whereas Staphylococcus is the most common causative organism in the general population.

During pregnancy, intrauterine growth retardation, spontaneous abortion, and pre-eclampsia. Chronic pain: Even in the absence of acute vasoocclusive pain, many patients have chronic pain that is not reported Pulmonary hypertension (increased pressure on the pulmonary artery), leading to strain on the right ventricle and a risk of heart failure; typical symptoms are shortness of breath, decreased exercise tolerance and episodes of syncope Chronic renal failure - this develops in 4.2% and manifests itself with hypertension (high blood pressure), proteinuria (protein loss in the urine) and worsened anemia. If it progresses to end-stage renal failure, it carries a poor prognosis.

Diagnosis
*Sickle Cell Prep (Sickling test) - done under a microscope to observe for sickling

*Sickledex - a small amount of blood is placed in a solution containing a chemical reducing agent - sickle hemoglobin is indicated if the solution turns cloudy - Sickling of the red blood cells, on a blood film, can be induced by the addition of sodium metabisulfite. The presence of sickle hemoglobin can also be demonstrated with the "sickle solubility test." A mixture of hemoglobin S (Hb S) in a reducing solution (such as sodium dithionite) gives a turbid appearance, whereas normal Hb gives a clear solution

*Hemoglobin electrophoresis - hemoglobin is subjected into electrical current that separates the various types and determines the amount present.

*Antenatal Diagnosis - available for high risk group through amniocentesis and gene mapping

*An acute sickle cell crisis is often precipitated by infection. Therefore a urinalysis to detect an occult UTI and CXR to look for occult pneumonia should be routinely performed

Therapeutic Management
*Prevent Sickling -promote adequate oxygenation and hemodilution :encourage increased intake of fluids 150mL/kg per day : avoid high altitudes and other low oxygen environments :avoid strenuous physical exertion : avoid extreme heat or cold : administer oxygen as indicated for pulse oximetry of 90% or less

*Crisis Episodes - supportive and symptomatic care :usually requires a blood transfusion starting at 10ml/kg

Nursing Responsibilities
*Nursing Assessment - obtain history for possible precipitating events -obtain history and characterize pain -examine for enlarged spleen and liver, tenderness of hands or feet -evaluate growth and development

*Nursing Interventions -relieve pain: careful positioning and support painful areas, distraction, bathe the child in warm water, applying local heat or massage -increase tissue perfusion: administer blood for severe anemia and vaso-occlusion, administer oxygen -reducing infection: administer antibiotics as prescribed, care to leg ulcers, and handwashing - preventing hypoxia: check for respiratory function, encourage coughing and deep breathing exercise, obtain pulse oximetry, use of incentive spirometry

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