THALASSEMIA

Nindya Hartini 0708151212 Pembimbing: Dr. Dewi Robinar, Sp.A, IBCLC

KEPANITERAAN KLINIK BAGIAN ILMU KESEHATAN ANAK FAKULTAS KEDOKTERAN UNIVERSITAS RIAU RUMAH SAKIT UMUM DAERAH ARIFIN ACHMAD PROVINSI RIAU PEKANBARU- 2011

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
#

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
#

Poikilositosis : target cells, tear drop sel, schistosit, sperosit, hypocrhome

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.

History of present illness

Since the first week of SMRs, the patients face also looks increasingly pale, the eyes become yellow, Patients also feel more tense and enlarged abdomen.

 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.

Formerly Disease History

12 years of SMRs, at the age of patients aged 1 year 6 months the patient was diagnosed by a physician at the Hospital suffering from thalassemia.

 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
#

Family History of Disease

Three of the patient's mother's cousin, a woman, had the same complaints as patients at this time. Two of them had died

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

History of pregnancy and birth

The patient was the second child of two brothers. The patient was born spontaneously assisted by midwives, just months with birth weights 3000 grams of body length is not known, burst into tears

History of Eating and Drinking

Breast milk is given from birth through age 2 years. Porridge rice began to be given the age of 7 months Ordinary rice began to be given at age 1.5 years Patients with a frequency of 3 times meal, serving a dish, consisting of side dishes and vegetables, milk (-) #

Immunization History
The child is immunized against polio Hepatitis immunization, measles and BCG DPT is never

History of physical and mental

- Crawl: 8 months - Walking: 13 months - voiced: 18 months - Can speak the words of the age of 1 year. - Start of grade 3 primary patient weight and height did not increase until now.
#

The state Housing & Residence

Patients living in permanent homes, one house containing four people, good ventilation, spacious house 7 x 16.5 m, the source water comes from wells dug, the draft Chapter is 10 m of wells, water gallons of drinking water sources.

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
#

 Weight : 17 kg Height : 120 cm Nutrition status : 17/22,5 x 100%= 75,6%.

 SKIN - Skin hyper pigmentation, not dry. HEAD

Faces: facies Cooley (Mongoloid) Hair: Normal Eyes: anemis, jaundice, isokor pupil, light reflex + / + Ears: normal shape, symmetrical, cerumen (-). Nose: no deviation of the septum, mucous (-), epistaxis (-) Mouth: lips wet, moist mucous membranes. #

 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
#

 Sex: No abnormalities Extremities: akral warm, capillary refilling 2 seconds

 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)
#

 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%)
#

WORKING DIAGNOSIS
Hipokrom microcytic anemia e.c Thalassemia

EXAMINATION PLAN SUPPORT

Routine blood examination TIBC Ferritin

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

 Diit: RDA X BBI = 60 X 22,5 kcal = 1350 kcal/day

Avoid foods that are rich in iron, such as red meat, liver, kidney, green colored vegetables

Prognosis
Quo ad Vitam: Dubia ad bonam Quo ad functionam: Dubia ad tonight

Discussion

The main problem in these patients are :

- The obedience level of patient transfusion.

 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
#

Thank You.