SICKEL CELL DISEASE

 SICKEL CELL DISEASE

sickled red cells

It is a genetic, autosomal recessive disorder that results in abnormalities of the globin gene of the hemoglobin molecule of the red blood cells (RBCs)

Ø  TYPES

Ø  Sickle cell anemia (S S) – heterozygous

Ø  Sickel cell trait (S A)

Ø  Sickle cell (S C)

SICKEL CELL TRAIT (S A)

This is the most common form of sickle cell disease. The patient has one normal hemoglobin gene and one abnormal hemoglobin gene. The patient is a carrier of sickle cell anemia and rarely has symptoms of the disease.

SICKEL CELL (Hgb C)

This is the second most frequent type of sickle cell disease. The affected cells assume a C –shape instead of an S – shape.

SICKEL CELL ANEMIA (S S) HOMOZYGOUS

Is a hereditary hemoglobinopathy characterized by the complete replacement of the normal hemoglobin with abnormal hemoglobin (S S). It is very common among Africans, Africa Americans and Mediteterranean

PATHOPHYSIOLOGY

 The red blood cells (RBCs) that contain more hemoglobin S than hemoglobin A are more prone to sickling when they are exposed to decreased oxygen tension (saturated) in the blood. The cells become more enlongated (sickled), rigid, fragile and rapidly destroyed. The sickled cells have a short survival life span of about 30 to 40 days as compared to 120 days for normal RBCs. They also have a decreased oxygen carrying capacity and low hemoglobin amount and obstruct capillary blood flow. This leads to engorgement tissue ischemia and necrosis. The resultant tissue hypoxia (lack of oxygen) causes further sickling and ultimately large infarction and pain.

PRECIPITATING FACTORS FOR SICKEL CELL CRISIS

·         Hypoxia or deoxygenated of the RBCs

·         Viral or bacterial infections – most common

·         High altitude

·         Emotion or physical stress;  excessive exercise

·         Surgery and blood loss

·         Dehydration – vomiting, diarrhoea, or diaphoresis (severe sweating)

·         Cold

·         Fever

·         Menstruation

SIGNS AND SYMPTOMS

v  Children are usually asymptomatic until 4 to 6 months due to high amount of fetal hemoglobin

v  Growth retardation/failure to thrive

v  Enuresis (bed wetting)

v  Delayed puberty

v  Bossing of the forehead

v  Anemia

v  Pallor

v  Jaundice

v  Hepatomegaly

v  Chronic led ulcers

v  Aching in the joints

v  Menstrual changes

v  Headache

v  Convulsions

v  Fatigue

v  Retinopathy (eye problems)

v  Retinal detachment

v  Osteoporosis

v  Osteomyelitis

v  Spinal deformities

v  Hematuria (urinating blood)

DIAGNOSIS

v  Electrophoresis – determines the type of hemoglobin

v  Hemoglobin

v  RBCs survival time

v  Skeletal x-rays demonstrates bone, joint deformities and flattering

v  MRI, this test usually reveals cerebrospinal accidents

v  Sickle turbidity test (sickled)

SICKEL CELL CRISIS

Is the acute exacerbation of sickling

TYPES

VASO OCCLUSIVE CRISIS

Is the most common type that occurs suddenly due to occlusion of the blood vessels from sickled cells. It causes tissue hypoxia (lack of oxygen) and pain. It affects various body parts especially chest, back, abdomen and extremitries.

SIGNS AND SYMPTOMS

v  Fever

v  Pain

v  Tissue engorgement

SPLENIC/SEQUESTRATION CRISIS

It is caused by pooling of blood in the spleen. It is life threatening and can cause death.

SIGNS AND SYMPTOMS

v  Profound anemia

v  Hypovolemia (decrease blood supply)

v  Shock

APLASTIC CRISIS

Reduced production and increased destruction of the RBCs usually due to viral infectious or depletion of folic acid

HAEMOLYTIC CRISIS

This is due to rapid haemolysis

SIGNS AND SYMPTOMS

v  Anemia

v  Pallor

MANAGEMENT OF SICKEL CELL ANEMIA

v  It has no cure

v  Immediate treatment of infections e.g malaria

v  Prophylactic antibiotic treatment e.g penincillin

v  Glucose

v  Avoidance of precipitating factors

v  Genetic counseling

v  Bone marrow transplant

TREATMENT OF CRISIS

v  Vigorous analgesic treatment

v  Administration of oxygen

v  Blood transfusion for anemia

v  Bed rest to conserve oxygen

v  Iv fluids

PAIN MANAGEMENT

ü  Analgesics

ü  Massaging

ü  Rehydration; encourage oral fluid intake and administer prescribed Iv fluids

ü  Monitor intake and output of fluids

ü  Ensure adequate nutrition

COMPLICATIONS

ü  CVA (stroke)

ü  Acute chest syndrome

ü  Pneumonia

ü  Priapism (prolong painful erect penis)

ü  Sickle cell crisis

ü  Pulmonary hypertension

ü  Renal failure

ü  Congestive heart failure

ü  Liver cirrhosis

ü  Retinopathy

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