THALASSEMIA

Nindya Hartini0708151212

Pembimbing:Dr. Dewi Robinar, Sp.A, IBCLC

KEPANITERAAN KLINIKBAGIAN ILMU KESEHATAN ANAK

FAKULTAS KEDOKTERAN UNIVERSITAS RIAU

RUMAH SAKIT UMUM DAERAH ARIFIN ACHMAD PROVINSI RIAU

PEKANBARU- 2011

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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.

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Epidemiology

• in Southeast Asia  3-9%. 

• Almost found in Indonesia   50%  beta thalassemia major

•  carriers  in Indonesia found 3-10%

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Etiology• Mutation of globin chain

• Herediter

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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 

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Facies Cooley

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 Peripheral blood:• Low of Hb• Microcytic hypochromic, target

cells, anisositosis, mikrosferosit, polikromasi, 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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Poikilositosis : target cells, tear drop sel, schistosit, sperosit,

hypocrhome

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Target Cells

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Basophilic Stippling

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Treatment• Blood transfusion

• iron chelating agent

• Splenectomy

Case Ilustration

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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.

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History of present illness

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

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• 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.

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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.

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• 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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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

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History of Parents

Patient's father: private job, primary school educationPatient's mother: housewife job, primary school education

Impression a parents are less able

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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

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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 (-)

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Immunization History

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

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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.

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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.

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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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• Weight : 17 kg

• Height : 120 cm

• Nutrition status : 17/22,5 x 100%= 75,6%.

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• 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.

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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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• Sex: No abnormalities

• Extremities: akral warm, capillary refilling 2 seconds

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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)

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• 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 bloodImunoserologi- 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

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EXAMINATION PLAN SUPPORT

• Routine blood examination

• TIBC

• Ferritin

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THERAPYTransfusion 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

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• 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

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Prognosis

• Quo ad Vitam: Dubia ad bonam

• Quo ad functionam: Dubia ad tonight

Discussion

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The main problem in these patients are :

- The obedience level of patient transfusion.

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• 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…….