Minggu 5 Lp Thalassemia.docx

THALASSEMIA A. DEFINITION The name Thalassemia comes from a combination of two Greek words, namely thalassa which means sea and anemia (" weak blood "). Words Thalassa used because this blood disorder was first encountered in patients from countries around the Mediterranean (TIF, 2010). The term Thalassemia is now used in the hemoglobinopathic group which is classified according to the specific globin chain in which the synthesis is disrupted (Chen, 2006). The name Mediterranean anemia introduced by Whipple is actually inappropriate because this condition can be found anywhere and a half type of thalassemia is usually endemic in certain geographical areas (Pediatric Thalassemia, Medscape). Thalassemia is a disorder of the production of reduced hemoglobin. First discovered simultaneously in the United States and Italy between 1925-1927. The word Talasemia is intended to link the disease to the Mediterranean population, in Greek Thalasa means sea. (Permono, & Ugrasena, 2006) Thalassemia is a blood disorder that is characterized by the condition of red blood cells easily damaged or shorter in age than normal blood cells (120 days). As a result, patients with thalassemia will experience symptoms of anemia including dizziness, pale face, frequent weakness, sleeplessness, loss of appetite, and recurrent infections (NUCLEUS PRECISE, 2010) Thalassemia is an autosomal recessive hemolytic anemia group, caused by a single gene mutation, due to a disturbance in alpha or beta globin chain formation. Individual homozygous or compound heterozygous, double heterozygous manifests as beta major thalassemia requiring routine blood transfusion and iron therapy to maintain the quality of life (Munthe, 1997 cit In 2009)

B. CLASSIFICATION Hemoglobin consists of globin and hem chains but in Thalassemia there is a disruption in the production of α or β chains. Two chromosomes 11 have one β gene on each chromosome (a total of two β genes) while two chromosomes 16 have two α genes on each chromosome (a total of four α genes). Therefore one Hb protein has two α subunits and two β subunits. Normally each globin α gene produces only half of the quantity of protein produced by the β globin gene, resulting in a balanced production of protein subunits. Thalassemia occurs when the globin gene fails, and the production of subunit globin proteins is unbalanced. Abnormalities in the globin gene α will cause defects in all genes, while abnormalities in the globin β chain gene can cause a complete or partial defect (Wiwanitkit, 2007).

1. In general, there are 2 (two) types of thalassemia, namely: (NUCLEUS PRECISE, 2010) a) Major Thalassemia, because of the dominant gene traits. Major Thalassemia is a disease characterized by a lack of hemoglobin levels in the blood. As a result, sufferers lack red blood which can cause anemia. Further impact , the red blood cells become damaged quickly and their age is very short, so that they need blood transfusions to prolong their lives. Patients with thalassemia major will appear normal at birth, but at the age of 3-18 months there will be symptoms of anemia. In addition, other symptoms can also appear such as heart beat faster and cooley facies. Faies cooley is a distinctive feature of thalassemia major, ie the nose stem goes in and the cheekbones protrude due to bone marrow that works too hard to overcome hemoglobin deficiency. Patients with thalassemia major will seem to need more special attention. In general, people with thalassemia major must undergo blood transfusion and treatment for life. Without good treatment, the life of a thalassemia major patient can only last about 1-8 months. How often this blood transfusion should be done again depends on the severity of the disease. To be sure, the heavier the disease, the more often the patient must undergo a blood transfusion.

b) Minor thalassemia, individuals carry only the thalassemia gene, but individuals live normally, signs of thalassemia do not appear. Although thalassemia minor is not a problem, but if he is married to minor thalassemia there will also be a problem. Probably 25% of their children receive thalassemia major. In the lineage of this couple will appear major thalassemia disease with a variety of complaints. Like a child becomes anemic, weak, sluggish and often bleeds. Minor thalassemia has existed from birth and will remain throughout the sufferer's life, but does not require blood transfusions throughout his life

2. Molecularly differentiated thalassemia : (Behrman et al , 2004) a) Thalassemia  (disruption of chain formation  ) b) Thalassemia  (disruption of chain formation  ) c) Thalassemia  -  (disruption of chain formation  and  the location of the gene is thought to be close together. d) Thalassemia  (disruption of chain formation  )

C. ETIOLOGY Thalassemia is not an infectious disease but a genetically inherited and recessive disease. This disease is passed down through a gene called the beta globin gene which is located on chromosome 11. In humans chromosomes are always found in pairs. This beta globin gene regulates the formation of one of the hemoglobin-forming components. If only next to the beta globin gene that has an abnormality is called a beta-thalassemia carrier. A carrier of the nature of thalassemia seems normal / healthy, because he still has 1 gene in a normal state (can function properly). A carrier of the nature of thalassemia rarely requires treatment. If globin gene abnormalities occur on both chromosomes, it is called a thalassemia (Homozygous / Major) sufferer. The two diseased genes came from both parents who each carried the nature of thalassemia. In the fertilization process, the child only gets next to the beta globin gene from his mother and another from his father. If both parents are carriers of the nature of thalassemia, there will be several possibilities at conception. The first possibility the child gets a changed beta globin gene (thalassemia gene) from the father and mother, the child will suffer from thalassemia. Whereas if the child only gets next to the thalassemia gene from the mother or father then the child only carries this disease. Another possibility is that children get normal beta globin genes from their parents. Whereas according to (Suriadi, 2001) Thalassemia is a hereditary disease that cannot be transmitted. Many are passed down by a husband and wife who have thalassemia in their cells / genetic factors. If both parents do not suffer from Thalassemia trait / pembacerifat Thalassemia, it is impossible they reduce Thalassemia trait / carrier nature of Thalassemia or Thalassemia major to their children.All their children will have normal blood. If one of the parents suffer from Thalassemia trait / carrier of the nature of Thalassemia while the other does not, then one in two (50%) is the possibility that each of their children will suffer from Thalassemia trait / carrier of the nature of Thalassemia, not one of their children will suffering from Thalassemia major. People with Thalassemia trait / carriers of the nature of Thalassemia are healthy, they can reduce these innate traits to their children without anyone knowing that these traits exist among their families. If both parents suffer from Thalassemia trait / carrier of the nature of Thalassemia, then their children may suffer from Thalassemia trait / carrier of the nature of Thalassemia or may also have normal blood, or they may also suffer from Thalassemia major

Scheme of Decreasing Mendelemia Thalassemia Genes

D. PATHOPHYSIOLOGY Strength in the alpha chain is found in beta thalassemia and excess beta and gama chains are found in alpha thalassemia. The advantages of this polypeptide chain experience presipitation in erythrocyte cells. Precipitated intra erythrocyte globin, which occurs as an alpha and beta polypeptide chain, or consists of Heinz's unstable body hemoglobin, damages the erythrocyte cover and causes hemolysis. Reduction in hemoglobin stimulates bone marrow to produce more RBC. In constant stimulation of bone marrow, continuous RBC production on a chronic basis, and with rapid destruction of RBC, results in inadequate circulation of hemoglobin. Excess production and destruction of RBC, causing inadequate circulation of hemoglobin. Excess production and destruction of RBC causes the bone marrow to become thin and easily broken or brittle. The causes of anemia in thalassemia are primary and secondary. The primary cause is the ineffective reduction of Hb A synthesis and erythropoesis with the destruction of intrameduled

erythrocyte

cells. Secondary

causes

are

due

to folic acid deficiency,

increased intravascular plasma volume resulting in hemodilution, and destruction of erythrocytes by the reticuloendothelial system in the lymph and liver. Biomolecular research shows the presence of DNA mutations in genes so that the production of alpha or beta chains of hemoglobin decreases. The occurrence of hemosiderosis is the result of a combination

of repeated transfusion , increased absorption of iron in the intestine due to ineffective erythropoesis, chronic anemia and the process of hemolysis Pathway

E. CLINICAL SYMPTOMS Other signs and symptoms of thalassemia are: 1. Thalassemia Major:             

Pale Weak Anorexia Hard to breathe Cranial bone thickness Enlargement of the liver and spleen / hepatosplenomegaly Thinning of cartilage bone, bone pain Dysrhythmias Microcytic and hypochromic red blood cells Hb level is less than 5gram / 100 ml High serum iron levels Icteric Increased facial mandibular growth; narrow eyes, the base of the nose wide and flat.

2. Minor Thalassemia   

Pale Normal red blood cell count The level of hemoglobin concentration decreases from 2 to 3 grams / 100ml below the normal levels of moderate microcytic and hypochromic red blood cells

F. COMPLICATIONS 1. Pathology fracture 2. Hepatopslenomegaly 3. Falling disorder 4. Organ dysfunction 5. Heart failure 6. Hemosiderosis 7. Hemochromatosis 8. infection Due to severe and prolonged anemia, heart failure often occurs. Repeated blood transfusion and the process of hemolysis cause high levels of iron in the blood, so that it accumulates in various body tissues such as the liver, spleen, skin, heart and others. This causes a malfunction of the device (hemochromatosis). Large spleen is easily ruptured due to minor trauma. Sometimes thalassemia is accompanied by signs of hyperspleenism such as leukopenia and trompocytopenia. Death is mainly caused by infection and heart failure (Hassan and Alatas, 2002)

G. SUPPORTING INVESTIGATION 1. Blood Edge: low Hb level, high reticulocyte, platelet count is within normal limits 2. peripheral blood smear: microcytic hypochrome, anisopholkilocytosis, polycromasia target cells, normoblas. Pregmentocytes 3. Bone sum sum function: normoblastic hyperplasia 4. Serum iron levels increase 5. Indirect bilirubin increases 6. Fe hemoglobin levels increase in thalassemia major 7. Hb A2 levels increase in minor thalassemia

I. MEDICAL MANAGEMENT According to (Suriadi, 2001) Medical management of Thalassemia includes : 

Transfusion until Hb reaches 9-10g / dl. Complications of excessive blood transfusion will cause iron buildup called hemosiderosis. Hemosiderosis can be prevented by giving deferoxamine (Desferal), which functions to remove iron from the body ( iron chelating agent). Secar deferoxamine is given intravenously, but to prevent a long hospitalization can also be administered subcutaneously in more than 12 hours.



Splenectomy: performed to reduce pressure on the abdomen and increase the life span of red blood cells derived from supplements (transfusions).



In severe thalassemia routine blood transfusions are needed and additional folic acid is given. Patients who undergo transfusions must avoid additional iron and oxidative drugs (such as sulfonamides), because excessive iron can cause poisoning. In very severe forms, bone marrow transplants may be needed. Genetic therapy is still in the research stage

J. ASSESSMENT 1. Origin of descent / citizenship Thalassemia is common in nations around the Mediterranean (Mediterranean). Like Turkey, Greece, Cyprus, etc. In Indonesia alone, thalassemia is quite common in children, it is even the most common blood disease. 2. Age In major thalassemia whose clinical symptoms are clear, these symptoms have been seen since the child is less than 1 year old. Whereas in minor thalassemia whose symptoms are milder, usually new children come for treatment at around 4-6 years of age.

3. Child health history Children tend to get upper respiratory infections more easily. This is easy to understand because of the low Hb that functions as a transport tool. 4. Growth and development Frequently obtained data regarding the tendency of disorders of growth and development since the child is still a baby, because of the influence of chronic tissue hypoxia. This occurs especially for thalassemia major. Child's physical growth is small for his age and there is a delay in sexual maturity, such as no growth of pubic and armpit hair. Children's intelligence can also decline. But in the type of minor thalassemia, growth and development of normal children are often seen. 5. Dietary habit Because of anorexia, children often experience difficulty eating, so that the child's weight is very low and not according to his age. 6. Activity pattern Children look weak and not as agile as their children. The child sleeps / breaks a lot, because when doing activities like a normal child it's easy to feel tired 7. Family health history Because it is a hereditary disease, it is necessary to study whether parents who suffer from thalassemia. If both parents suffer from thalassemia, their child is at risk of developing thalassemia major. Therefore, premarital counseling actually needs to be done because it serves to determine the existence of a disease that may be caused by heredity. 8. Maternal history during pregnancy (Ante Natal Core - ANC) During Pregnancy, it should be studied in depth the risk factors for thalassemia. Often parents feel that they are healthy. If a risk factor is suspected, then the mother needs to be informed about the risks that may be experienced by her child later after birth. To ensure a diagnosis, the mother is immediately referred to a doctor. 9. Data on the physical state of thalassemia children that are often obtained include: a) General condition Children usually look weak and lack enthusiasm and are not as agile as their normal age. b) Head and face shape Children who have not / do not get treatment have a distinctive form, namely the head is enlarged and the shape of the face is Mongoloid, which is a snub nose with no nose, the distance between the eyes is wide, and the forehead bone looks wide.

c) The eyes and conjunctiva look pale yellowish d) Mouth and lips look pale blackish e) Chest On inspection it appears that the left chest is prominent due to an enlarged heart caused by chronic anemia . f) Stomach It looks bulging and at the touch there is an enlargement of the spleen and liver (hepatosplemagali ). g) Her physical growth is too small for her age and her BB is less than normal. The physical size of the child looks smaller when compared to other children his age. h) Growth of secondary sex organs for children at puberty There are delays in sexual maturity, for example, the absence of hair growth in the armpits, pubis, or mustache. Even the child may not reach the adolesense stage due to chronic anemia. i) Skin Color pale yellowish skin. If the child has frequent blood transfusions, the color of the skin becomes gray like iron due to the accumulation of iron in the skin tissue (hemosiderosis).

K. NURSING DIAGNOSIS 1. The ineffectiveness of tissue perfusion is related to reduced cellular components that deliver oxygen / nutrients 2. Activity intolerance and unbalance of oxygen demand and supply 3. Risk For Infection Related to inadequate secondary defense, decreased hemoglobin, leukopenia or decreased granulocytes

L. NURSING PLAN No

DIAGNOSI

. 1.

NURSING PLAN

S

AIM

The

NOC

ineffectivene



ss of tissue perfusion

is

INTERVENTION NIC

Network Perfusion : Periphe Monitor Vital Signs ral



Definition: Collect and analyze the

Circulation status

cardiovascular,

the reduction in

and

temperature systems to determine

cellular Result Criteria:

components

respiratory

The client shows adequate tissue

and prevent complications

that

deliver perfusion as indicated by the Activities: oxygen / presence of peripheral pulse, dry 1. Monitor blood pressure , pulse, nutrients and warm skin, adequate urine temperature and RR every 6 output, and no respiratory hours or as indicated distress. 2. Monitor breathing frequency and rhythm 3. Monitor abnormal breathing patterns 4. Monitor skin temperature, color and humidity 5. Monitor peripheral cyanosis 2. Monitor neurological status Definition : Collect and analyze patient data to minimize and prevent neurological complications Activities: 1. Monitor size, shape, symmetry, and pupillary reactivity 2. Monitor the level of client awareness 3. Monitor orientation level 4. GCS monitor 5. Monitor patient response to treatment

6. Inform the doctor about changes in the patient's condition Liquid management Definition: Maintain fluid balance and prevent complications due to abnormal fluid levels. Activities: 1. Record fluid intake and output 2. Assess for signs of dehydration (poor skin turgor, sunken eyes, etc.) 3. Monitor nutritional status 4. Prepare

transfusion (such

as checking the blood with the patient's identity, preparing the transfusion device) 5. Watch for blood / transfusion components 6. Watch

client

response

during component delivery bl ood 7. Monitor laboratory results (Hb level, serum iron, platelet count) 2.

Activity

NOC

NIC

intolerance



Energy Conservation

Energy management

and



Self Care: ADL

Definition: Regulates energy use to

unbalance of oxygen

prevent

Result Criteria:

fatigue

and

optimize

function demand and • Clients can carry out the supply recommended activities Activities: while maintaining

blood

pressure, pulse, and respiratory frequency in the normal range

1. Determine the limitations of the patient's physical activity 2. Assess patient's perception of the causes of fatigue they experience

3. Encourage disclosure of clients' concerns

about

physical

weakness 4. Monitor nutritional intake to ensure sufficient energy sources 5. Consult with a nutritionist about how to increase energy through food 6. Monitor

cardiopulmonary

response to activities (such as tachycardia,

dyspnea,

dysrhythmias, respiratory

diaporesis,

frequency,

skin

color, blood pressure) 7. Monitor sleep patterns and quantities 8. Help patients schedule breaks and activities 9. Monitor

the

patient's

oxygenation response during activity 10. Teach patients to recognize signs and symptoms of fatigue so that they can reduce their activity. Oxygen therapy Definition: Manage the administration of oxygen and monitor its effectiveness Activities: 1. Clean the mouth, nose, trachea if there is a secret 2. Maintain patency of the airway

3. Arrange

oxygenation

devices

including

humidifiers 4. Monitor

oxygen

flow

according to the program 5. Periodically, monitor the accuracy of tool installation

3

Risk For Infection

NOC

NIC

Result criteria :

1. Monitor signs / symptoms of

Related to inadequate

1. The client is able to identify

secondary

behavior to prevent / reduce

defense,

the risk of infection

decreased hemoglobin,

as evidenced by their clinical

leukopenia or

indicators,

decreased

lifestyles to reduce the risk

granulocytes

of infection Free

changing

from

signs

or

4. d. There is no purulent drainage or erythema 5. e. There is an increase in

fatigue

and

malaise) 2. b. Assess factors that increase infection attacks 3. c. Explain to patients and families

symptoms of infection

wound healing

temperature, heart rate, skin temperature,

2. b. Patients show risk control

3. c.

infection (for example, body

why

illness

and

treatment increase the risk of infection. 4. d. Teach patients the correct hand washing technique 5. e. Teach patients and family signs / symptoms of infection and when to report it to health centers 6. f. Give antibiotic therapy if needed

-

BIBLIOGRAPHY

Ganie, A, 2004. Study of alpha thalassemia DNA in the field. USU Press, Medan Supardiman, I, 2002. Clinical Hematology. Bandung alumni publisher. Mansjoer,

arif,

et

al. 2000.

Kapita

Medical

Selekta 3 r d

Edition

V o l u m e 2 . Media Aesculapius Fkul. Hartoyo, Edi, et al. 2006. " Medical Service Standards . Faculty of Medicine Unlam / Ulin Banjarmasin Hospital. Suriadi S.Kp and Yuliana Rita S.Kp, 2001, Child Nursing Care, Edition I. PT Fajar Interpratama: Jakarta. McCloskey, JC, 1996. Nursing Intervention Classification (NIC). 2 nd Edition. Mosby Year Book: USA North American Nursing Diagnosis Association., 2001. Nursing Diagnoses: Definition & Classification 2001-2002 . Philadelphia. Marion Johnson, et al., 2000, Nursing Outcome Classifications (NOC), Mosby Year-Book, St. Louis Marjory Gordon, et al, 2001, Nursing Diagnoses: Definition & Classification 20012002 , NANDA . [email protected]