SEMINAR ON NURSING MANAGEMENT OF SICKLE CELL

ANEMIA,POLYCYTHEMIA,THROMBOCYTOPENIA AND HEMOPHILIA

Presented by,Umadevi.k

The oxford college of nursing bengaluru

SICKLE CELL ANEMIA

SICKLE CELL ANEMIA

Sickle-cell disease (SCD), or sickle-cell anaemia (SCA) or drepanocytosis, is an autosomal recessive genetic blood disorder with overdominance, characterized by red blood cells that assume an abnormal, rigid, sickle shape. Sickle cell anemia is caused by an abnormal type of hemoglobin called hemoglobin S. Hemoglobin is a protein inside red blood cells that carries oxygen.

GENETICS

INCIDENCE

Sickle cell disease is prevalent in many parts of India, where the prevalence has ranged from 9.4 to 22.2% in endemic areas.

Sickle cell anemia affects millions throughout the world.

It is particularly common among people whose ancestors come from sub-Saharan Africa; Spanish-speaking regions (South America, Cuba, Central America); Saudi Arabia; India; and Mediterranean countries such as Turkey, Greece, and Italy.

ETIOLOGY

Sickle cell anemia is inherited disease caused by an abnormal type of hemoglobin called hemoglobin S.

PATHOPHYSIOLOGY

A point mutation in the β-globin chain of haemoglobin

Amino acid glutamic acid replaced with the hydrophobic amino acid valine at the sixth position.

The β-globin gene is found on the short arm of chromosome .The association of two wild-type α-globin subunits with two mutant β-globin subunits forms haemoglobin S (HbS).

Under low-oxygen conditions (being at high altitude, for example), the absence of a polar amino acid at position six of the β-globin chain promotes the non-covalent polymerisation (aggregation) of haemoglobin,

Distortion of red blood cells into a sickle shape

Repeated episodes of sickling damage the cell membrane

Decrease the cell's elasticity.

Rigid blood cells are unable to deform as they pass through narrow capillaries

Vessel occlusion and ischaemia.

SIGNS AND SYMPTOMS

Symptoms usually do not occur until after age 4 months.

Almost all patients with sickle cell anemia have painful episodes (called crises), which can last from hours to days. These crises can cause pain in the bones of the back, the long bones, and the chest.

Younger children with sickle cell anemia have attacks of abdominal pain.

When the anemia becomes more severe, symptoms may include:

Fatigue Paleness Rapid heart rate Shortness of breath Yellowing of the eyes and skin

(jaundice)

The following symptoms may occur because small blood vessels may become blocked by the abnormal cells:

Painful and prolonged erection (priapism)

Poor eyesight or blindness Problems with thinking or confusion

caused by small strokes Ulcers on the lower legs (in

adolescents and adults)

Over time, the spleen no longer works. As a result, people with sickle cell anemia may have symptoms of infections such as:

Bone infection (osteomyelitis) Gallbladder infection (cholecystitis) Lung infection (pneumonia) Urinary tract infection

OTHER SYMPTOMS INCLUDE:

Delayed growth and puberty Painful joints caused by arthritis 

DIAGNOSTIC EVALUATION

Tests commonly performed to diagnose and monitor patients with sickle cell anemia include:

Bilirubin Blood oxygen Complete blood count (CBC) Hemoglobin electrophoresis Serum creatinine Serum potassium Sickle cell test

TREATMENT

Treatment for a sickle cell crisis includes:

Blood transfusions (may also be given regularly to prevent stroke)

Pain medicines Plenty of fluids

Other treatments for sickle cell anemia may include:

Hydroxyurea (Hydrea), a medicine that may help reduce the number of pain episodes (including chest pain and difficulty breathing) in some people

Antibiotics to prevent bacterial infections, which are common in children with sickle cell disease

Bone marrow or stem cell transplants can cure sickle cell anemia.

Treatments that may be needed to manage complications of sickle cell anemia include:

Dialysis or kidney transplant for kidney disease Counseling for psychological complications Gallbladder removal in people with gallstone

disease Hip replacementfor avascular necrosis of the

hip Surgery for eye problems Treatment for overuse or abuse of narcotic pain

medicines Wound care for leg ulcers 

VACCINATION

People with sickle cell disease must reduce their risk of infections. This includes receiving certain vaccinations, including:

Haemophilus influenzae vaccine(Hib) Pneumococcal conjugate

vaccine(PCV) Pneumococcal polysaccharide

vaccine(PPV)

NURSING DIAGNOSIS

Acute pain related to tissue hypoxia due to agglutination of sickle cells with in blood vessels

Risk for infection related to immunocompromised state

Risk for powerlessness related to illness induced helplessness

Deficient knowledge regarding sickle crisis prevention

NURSING INTERVENTIONS

Managing pain Preventing and managing infection Promoting coping skills Minimizing deficient knowledge Monitoring and managing potential

complications

POLYCYTHEMIA

POLYCYTHEMIA

Polycythemia(also known as polyglobulia) is a disease state in which the proportion of blood volume that is occupied by red blood cells increases.

TYPES

ABSOLUTE (The overproduction of red blood cells may be due to a primary process in the bone marrow (a so-called myeloproliferative syndrome), or it may be a reaction to chronically low oxygen levels or, rarely, a malignancy)

PRIMARY (Polycythemia vera (PCV), polycythemia rubra vera

(PRV), or erythremia, occurs when excess red blood cells are produced as a result of an abnormality of the bone marrow )

SECONDARY Secondary polycythemia is caused by either natural

or artificial increases in the production of erythropoietin, hence an increased production of erythrocytes

ALTITUDE RELATED Secondary polycythemia can be induced directly by

phlebotomy (blood letting) to withdraw some blood, concentrate the erythrocytes, and return them to the body.

HYPOXIC DISEASE-ASSOCIATED Cyanotic heart disease where blood oxygen levels

are reduced significantly POLYCYTHEMIA CAUSED BY ALTERED OXYGEN

SENSING Inherited mutations in 3 genes which all result in

increased stability of Hypoxia Inducible Factors (HIFs), leading to increased erythropoietin production, have been shown to cause erythrocytosis:

IATROGENIC (phlebotomy) GENETIC (This includes patients who have a special

form of hemoglobin known as Hb Chesapeake)

RELATIVE (Relative polycythemia is an apparent rise

of the erythrocyte level in the blood; however, the underlying cause is reduced blood plasma)

ETIOLOGY

Polycythemia vera is a disorder of the bone marrow. It mainly causes too much production of red blood cells, although the numbers of white blood cells and platelets are also increased.

It is a rare disease that occurs more often in men than women, and is rare in patients under age 40. It is usually associated with a gene mutation .The cause of this mutation is unknown.

SIGNS AND SYMPTOMS

Breathing difficulty when lying down Dizziness Excessive bleeding Fullness in the left upper abdomen (due

to enlarged spleen) Headache Itchiness, especially after a warm bath Red coloring, especially of the face Shortness of breath Symptoms of phlebitis 

Other symptoms that may occur with this disease:

Bluish skin color Fatigue Red skin spots Vision problems

DIAGNOSTIC STUDIES History Physical exam

Tests that may be done include:

Bone marrow biopsy Complete blood count with differential Comprehensive metabolic panel Erythropoietin level Genetic test for mutation Oxygen saturation of the blood Red blood cell mass Vitamin B12 level

This disease may also affect the results of the following tests:

ESR Lactate deydrogenase Leukocyte alkaline phosphatase Platelet aggregation test Serum uric acid

TREATMENT

A method called phlebotomy is used to decrease blood thickness. One unit of blood (about 1 pint) is removed weekly until the hematocrit level is less than 45 (males) or 42 (females). Then therapy is continued as needed.

Some patients are advised to take aspirin to reduce the risk of blood clots, though it increases the risk for stomach bleeding. Ultraviolet-B light therapy can reduce the severe itching some patients experience.

COMPLICATIONS

Acute myelogenous leukemia (AML) Bleeding from the stomach or other

parts of the intestinal tract Gout Heart failure Myelofibrosis Thrombosis (blood clotting, which

can cause a stroke, heart attack, or other body damage)

NURSING MANAGEMENT

Educator Risk factors for thrombotic

complications are assessed Patients with history of bleeding is

advised to avoid aspirin Instruct for minimal alcohol intake For pruritis advice for bath in tepid

or cool water along with applications of cocoa butter based lotions and bath products

Occasionally, chemotherapy (specifically hydroxyurea) may be given to reduce the number of red blood cells made by the bone marrow. Interferon may also be given to lower blood counts. A medicine called anagrelide may be given to lower platelet counts

HEMOPHILIA

HEMOPHILIA

Haemophilia is a group of hereditary genetic disorders that impair the body's ability to control blood clotting or coagulation, which is used to stop bleeding when a blood vessel is broken.

INCIDENCE

Haemophilia A (clotting factor VIII deficiency) is the most common form of the disorder, present in about 1 in 5,000–10,000 male births.

Haemophilia B (factor IX deficiency) occurs in around 1 in about 20,000–34,000 male births.

Like most recessive sex-linked, X chromosome disorders, haemophilia is more likely to occur in males than females

ETIOLOGY Haemophilia A is a recessive X-linked

genetic disorder involving a lack of functional clotting Factor VIII and represents 80% of haemophilia cases.

Haemophilia B is a recessive X-linked genetic disorder involving a lack of functional clotting Factor IX. It comprises approximately 20% of haemophilia cases.

Haemophilia C is an autosomal genetic disorder (i.e. not X-linked) involving a lack of functional clotting Factor XI

GENETICS

SIGNS AND SYMPTOMS

Internal or external bleeding episodes, which are called "bleeds".

Patients with more severe haemophilia suffer more severe and more frequent bleeds, while patients with mild haemophilia usually suffer more minor symptoms except after surgery or serious trauma.

In both haemophilia A and B, there is spontaneous bleeding but a normal bleeding time, normal prothrombin time, normal thrombin time, but prolonged partial thromboplastin time.

Internal bleeding(JOINT BLEED) is common in people with severe haemophilia and some individuals with moderate haemophilia.

If not treated promptly, joint bleeds can lead to permanent joint damage and disfigurement

Heavy bleeding from a dental procedure, an accident, or surgery.

COMPLICATIONS Deep internal bleeding, e.g. deep-muscle bleeding,

leading to swelling, numbness or pain of a limb.

Joint damage from Haemarthrosis(haemophilic arthropathy), potentially with severe pain, disfigurement, and even destruction of the joint and development of debilitating arthritis.

Transfusion transmitted infection from blood transfusions that are given as treatment.

Intracranial haemorrhage is a serious medical emergency caused by the buildup of pressure inside the skull. It can cause disorientation, nausea, loss of consciousness.

 

DIAGNOSTIC FINDINGS

Haemophilia A can be mimicked by von Willebrand disease.

von Willebrand Disease could significantly affect as many as 1 in 10,000 people.

von Willebrand Disease type 2A, where decreased levels of von Willebrand Factor can lead to premature proteolysis of Factor VIII. In contrast to haemophilia, VWD type 2A is inherited in an autosomal dominant fashion.

von Willebrand Disease type 2N, where von Willebrand Factor cannot bind Factor VIII, autosomal recessive inheritance. (i.e.; both parents need to give the child a copy of the gene).

von Willebrand Disease type 3, where lack of von Willebrand Factor causes premature proteolysis of Factor VIII. In contrast to haemophilia, vWD type 3 is inherited in an autosomal recessive fashion.

MANAGEMENT

Commercially produced factor concentrates such as "Advate", a recombinant Factor VIII, come as a white powder in a vial which must be mixed with sterile water prior to intravenous injection.

If a patient becomes refractory to replacement coagulation factor as a result of circulating inhibitors, this may be partially overcome with recombinant human factor VII (NovoSeven), which is registered for this indication in many countries

PROPHYLAXIS OR ON-DEMAND

GENE THERAPY PREVENTIVE

EXERCISES ALTERNATIVE MEDICINE

NURSING MANAGEMENT

Patients with hemophilia is instructed to avoid any agents that interfere with platelet aggregation such as aspirin,NSAIDS,herbs,nutritional supplyments and alcohol.

If pt had rescent surgery the nurse frequently and carefully assess surgical site for bleeding

Frequent vital sign monitoring is needed until the nurse is certain than there is no excessive postoperative bleeding.

Analgesics are administered to allevate pain

Advice for dental hygiene All injections and invasive procedures

should be avoided Patients with hemophilia should be

encouraged to carry or wear medical identification

During bleeding heat application should be avoided

Apply pressure to control bleed if factor deficiency is not much severe.

CONCLUSION

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