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Ketika Sudah Bosan Dengan Sesuatu....
Ketika Sudah Bosan Dengan Sesuatu....
Definition
Thalassemia is a hereditary disorder inherited as an autosomal recessive that cause a reduction or absence of synthesis of one or more globin chains.
Epidemiology
in Southeast Asia 3-9%. Almost found in Indonesia 50% beta thalassemia major carriers in Indonesia found 3-10%
Etiology
Mutation of globin chain Herediter
Classification
Genetic alpha thalassemia and betha thalassemia
Clinically 1. Thalassemia major 2. Thalassemia minor
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Diagnosis
Pale Mongoloid face (facies Cooley) Can be found jaundice Disturbance of growth Splenomegaly and hepatomegaly
Facies Cooley
Peripheral blood: Low of Hb Microcytic hypochromic, target cells, anisositosis, mikrosferosit, polikrom asi, poikilositosis and target cells. reticulocytes increased. Special Inspection: Hb F increased: 20% -90% of total Hb Hb Electrophoresis: Hb F, Hb A2 Genetic Conseling: Pedigree assesment
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Target Cells
Basophilic Stippling
Treatment
Blood transfusion iron chelating agent Splenectomy
Case Ilustration
Case
Patient DF, female, 14 years old, came to AA hospital on Sept 8th 2011 with main pale and enlarged since 1 week before hospital admission.
Since 2 years of SMRs, the patient's abdomen looks enlarged, palpable solid future in the right and left abdomen, patients also frequently upset stomach, body feels stiff, painful hips.
Since the patient sits in third grade elementary school, there is no weight gain and physical growth. Until the age of 14 years now remain patient while the patient was grade 3 elementary school. Patients are not menstruating, the signs of secondary sex patients are also invisible
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History of Parents
Patient's father: private job, primary school education Patient's mother: housewife job, primary school education
Impression a parents are less able
Immunization History
The child is immunized against polio Hepatitis immunization, measles and BCG DPT is never
Physical examination
General condition: looks sick Awareness: composmentys Vital signs: - BP: 110/60 mmHg - Temperature: 35.9 C - Pulse: 68x/s, stuffing enough - Breath: 26x/s
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Chest and Heart: Within normal limits Abdomen - Inspection: convex, symmetric, venektasi (-). - Palpation: sociable, liver palpable 3 fingers below the arcus costae, the edge sharp, chewy consistency, tenderness (-), flat surface, spleen palpable on S 5-6. - Percussion: timpani-dim - Auscultation: bowel sounds (+) normal
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Blood: Hb: 3.6 g% Leukocytes: 14.300/mm3 Platelets: 88.000/mm3 Ht: 14 vol% MCV: 55.4 FL (N: 80-97 FL) MCH: 16.9 pg (N: 27-31 pg)
Diff count: Neutrophils: 51% Lymphocytes: 42% Basophils: 0 Eosinophils: 2% Monocytes: 5% AST: 28 U / I (N: 5-40) ALT: 11 U / I (N: 5-41) TBIL: 3.3 mg / dL (N: 0,2-1) DBIL: 0.5 mg / dL (N: 0-0,2)
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Erythrocytes: hipokrom, microcytic, anisositosis, poikilositosis, target cells (+), tear drop cells (+) Overview of peripheral blood Imunoserologi - HBsAg: Non-reactive - Anti-HBsAg: Non-reactive Elektroforesisi Hb HbA: > 13% (N: 96-98%) HBF: 14.8% (N: 0,5-0,8%)
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WORKING DIAGNOSIS
Hipokrom microcytic anemia e.c Thalassemia
THERAPY
Transfusion PRC = (12 - 3.6)x 17kgx 4 = 571.2 cc Requirement per day = 3 to 5 cc / kg = 3 to 5 x 17 kg = 51 cc to 85 cc / day
Prognosis
Quo ad Vitam: Dubia ad bonam Quo ad functionam: Dubia ad tonight
Discussion
This is also supported by the presence of erythrocyte indices (MCV, MCH, MCHC) with low. Symptomatic patients treated with blood transfusion because there is a decrease Hb <10 g%. If ferritin> 1000 ng / ml deferoksamin we planned giving
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Thank You.