THALASSEMIACase ReportPreceptor:dr.Ulynar Marpaung , Sp.A

Presenter:Andhika Hadi Wirawan 1102010020

Pediatric Department

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IdentityPatient Name : ADPBirth Date: 13 April 2008Age: 7 years 0 monthsGender: FemaleAddress: Asrama Bimob Pamulang RT01/12 CiputatNationality: IndonesiaReligion: Islam Date of admission: April 16th 2015Date of examination: April 16th 2015

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Parents Identity

FatherMotherNameMr. A HMrs. N HAge35 years old32 years oldJobPoliceHousewifeNationalityJavaneseJavaneseReligionIslamIslamEducationPolice AcademyHigh School (graduated) Earning/monthApproximately Rp.4.500.000,--AddressAsrama Bimob Pamulang RT01/12 Ciputat

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AnamnesisThe anamnesis was taken on April 16th 2015, by autoanamnesis and alloanamnesis (from patients mother).

Chief complain :Pallor that worsen since 4 days before admittedAdditional complains : Easily tired, fatigue, abdominal pain. enlarged abdomen

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History of Present IllnessPatient was admitted to RS Sukanto hospital with pallor that worsen since 4 days before admitted. Skin pallor was first noticed on age 8 months, but pallor got worsen since 4 days ago. Skin pallor was found all over patients body, especially on lips, lining of eyes, inner mouth, nails and palms. Pallor was usually worsen if patient was heavily exercised and releaved after having blood tranfusion.Patient also complaining that she was easily tired and malaise. This symptoms first noted when she was starting breastfeeding, her mother said that the patient was easily fatigued. On her childhood, the patient also easily fatigued to do daily activities, for example when play with friends.

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Patients also presented with abdominal pain, located in her left upper quadrant. Pain characteristic was sharp, not radiating, felt continously without any episodic pain-free break, and without any aggravating or relieving factors. Patient also complained about enlarged abdomen, that progressively enlarged since age 8 months. No fever, nausea, or vomiting are noted. History of cough, runny nose, or difficulty breathing is denied. There was no disturbance on urination or defecation. History of loss cosciousness also denied.

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When the patient was 8 months old, patients mother found a mass on her left upper quadrant abdomen. The mass was smooth and hard with the same color with surrounding tissues, immobile, with a size of big mans fist.Patient was also easily tired to suck breast and looked pale. No history of spontaneus bleeding, no blood in her diapers, also no black stools. Patient was admitted to RS Sukanto and being tested for blood test and Hb analysis, and finally diagnosed as thalassemia beta major. Since then, patient wa routinely transfused every 4-8 weeks.

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Patient usually admitted for transfusion when the patient was pale or unable to do daily activities. Patient had her first transfusion when she was eight months old. Interval between transfusion was around 4-8 weeks. Following transfusion, patient never had any fever or any allergic reaction. Last blood transfusion was 26 March 2015.Patient never had any spontaneous bleeding including nose bleeds and gum bleeding. History of having black stools and bloody vomiting or diarrhea was also denied. Patient never had history of trauma and surgery. Patient had noemal apetite without any intake problem. History of fracture is denied.Patient was currently counsuming ferriprox 3x500 mg.

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History of Past Illness

Pharyngitis/Tonsilitis+Bronchitis-Pneumonia-Morbilli+Varicella+Diphteria-Enteritis+Diarrhea-Thypoid-Surgery-Brain Concussion-Fracture-Drug Reaction-

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Birth HistoryMothers Pregnancy HistoryAntenatal Care: Mother checkups her pregnancy to mudwife monthlyPregnancy Illness: No history of problems and diseases during pregnancyDrug Consumed: Mother get vitamins every antenatal care

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Childs Birth HistoryLabor : HospitalBirth attendants: Obstetrician Mode of delivery: C-SectionGestation: 38 weeksInfant state: healthyBirth weight : 3600 gramsBody length: 50 cmAccording to the mother, the baby started to cry and the baby's skin is red, no congenital defects were reported

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Development HistoryFirst dentition: 6 monthsPsychomotor development Head Up: 1 month oldSmile: 1 month oldLaughing: 1- 2 month oldSlant: 2,5 months oldSpeech Initation: 5 months oldProne Position: 5 months oldFood Self: 5 6 months oldSitting: 6 months oldCrawling: 8 months oldStanding: 1 years oldWalking: 1 years old

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Mental Status: Normal Conclusion: Growth and development status is still in the normal limits and was appropriate according to the patients age

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History of EatingBreast Milk : Exclusively 6 monthsFormula milk : Bebelac since 7 months until 2 years oldBaby biscuits : Biscuits regalFruit and vegetables : Grape, LonganSolid foods and side dishes : White rice, Egg, Chicken

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Immunization History

ImmunizationFrequencyTimeBCG1 time1 month oldHepatitis B3 times0, 1, 6 months oldDPT3 times2, 4, 6 months oldPolio4 times0, 2, 4, 6 months oldHib4 times 2, 4, 6, 15 months oldMMR1 times15 monthsTifoid1 times24 monthsHepatitis A--

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Family HistoryFamily Ilness HistoryFather: Thalassemia carrierMother: Thalassemia carrierOlderSister: Thalassemia beta major

ChildbirthGenderAgeAge DiedSumption DiedSpontan pervaginam, gestation atermGirl11 years old--

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History of Disease in Other Family MemberThere is no one living around their home known for having the same condition as the patient.

Social and Economic HistoryThe patient lived at the dormitory together with her father. Mother and sister.There are 2 rooms, 1 toilet. There are 2 windows inside the dormitory. The windows are ocassionaly opened during the day.Hygiene:The patient changes her clothes everyday with clean clothes.Bed sheets changed every two weeks.

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Physical Examination 16 April 2015General StatusGeneral condition: mild illAwareness: Compos MentisBlood Pressure: 100/70 mmHgPulse: 105 x/min, regular, full, strong.Breathing rate: 26x/minTemperature: 36,5 oC (per axilla)

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Antropometry Status Head circumstance: 48,5 cm Weight: 18 kilogram Height: 104 cmNutritional Status based NCHS (National Center for Health Statistics) year 2000:WFA (Weight for Age): 18/23 x 100 % = 78% HFA (Height for Age):104/121x 100 % = 85 % WFH (Weight for Height): 18/16x 100 % = 113 % Conclusion: The patient has good nutritional status.

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Head to Toe ExaminationHeadNormocephaly, hair (black, normal distributon, not easily removed ) sign of trauma (-), large fontanelle closed.EyesIcteric sclera -/-, pale conjunctiva -/-, hyperaemia conjunctiva -/- , lacrimation -/-, sunken eyes -/-, pupils 3mm/3mm isokor, Direct and indirect light response ++/++EarsNormal shape, no wound, no bleeding ,secretion or serumenNoseNormal shape, midline septum, secretion -/-

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MouthLips: moistTeeth: no cariesMucous: moistTongue: CleanTonsils: T1/T1, No hyperemia Pharynx: No hyperemiaNeckLymph node enlargement (-), scrofuloderma (-)

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Thorax:Inspection: symmetric when breathing , no retraction, ictus cordis is not visiblePalpation: mass (-), tactile fremitus +/+Percussion: sonor on both lung field and Auscultation:Cor: regular S1-S2, murmur (-), gallop (-)Pulmo: vesicular +/+, Wheezing -/- , Rhonchy -/-

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Abdomen:Inspection: Convex, epigastric retraction (-), there is no a widening of the veins, no spider nevi.Palpation: Tenderness (++) on left upper quadrantHepar : Hepatomegaly, palpable three fingers (4 cm) below arcus costae, smooth and regular, with blunt edges, no nodule and tendernessLien : Splenomegaly, palpable Schuffner 7Percussion: Mostly dull on entire abdomenAuscultation: normal bowel sound, 7 times per minutes

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Vertebra: There does not appear scoliosis, kyphosis, and lordosis, do not look any mass along the line of the vertebral Ekstremities: warm akral, capillary refill time < 2 seconds, edema(-)Skin: Pale, no cyanosis, normal turgorGenitalia : Normal

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Neurological Examination

Meningeal sign

Nuchal rigidity-Kernig sign-Lasegue sign-Brudzinski 1-Brudinski 2-

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Motoric Examination

Power Hand Feet5 5 5 5/ 5 5 5 55 5 5 5/ 5 5 5 5Tonus Hand FeetNormotonus / NormotonusNormotonus / NormotonusTrophy Hand FeetNormotrophy / NormotrophyNormotrophy / Normotrophy

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Motoric examination

Physiologic Reflex Upper extrimities Biceps Triceps Lower extrimities Patella Achilles + / ++ / ++ / ++ / +

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Pathologic Reflex Upper extrimities Hoffman Trommer Lower extrimities Babinsky Chaddock Oppenheim Gordon Schaeffer- / -- / -- / -- / -- / -- / -- / -

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Autonom Examination

Clonus Patella Achilles- / -- / -

Defecation Urination SweatingNormal ( 4 times daily, watery)Normal ( 4-5 times daily )Normal

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Laboratory InvestigationHematology (16 April 2015)

Hematology (18 April 2015)

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WORKING DIAGNOSISthalassemia Beta MajorNormal Growth StatusGood Nutritional StatusComplete Immunization Status

MANAGEMENTFerriprox 3x500 mgPRC Transfusion 300 ccLasik 1x15 mg (after tranfusion)IVFD NaCL 0,9 % 500cc macro drip, 14 dpm

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PROGNOSISQuo ad vitam: ad bonamQuo ad functionam: dubia ad bonamQuo ad sanactionam: dubia ad bonam

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FOLLOW UP (April 16th - April 18th 2015April 16th 2015. First day of hospitalization

SPallor (+)Fatigue (+) Abdominal pain (+)Fever (-)Shortness of breath (-)

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OGeneral condition: mild illAwareness: Compos MentisBlood Pressure: 100/70 mmHgPulse: 105 x/min, regular, full, strong.Breathing rate: 26x/minTemperature: 36,5 oC (per axilla)Eye : pale conjunctiva +/+Thorax:Cardio : S1/S2, reguler, no murmur, no gallopPulmonary : vesiculer +/+, rhonchi -/-, wheezing -/-

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OAbdomen:Inspection: Convex, epigastric retraction (-), there is no a widening of the veins, no spider nevi.Palpation: Tenderness (++) on left upper quadrantHepar : Hepatomegaly, palpable three fingers (4 cm) below arcus costae, smooth and regular, with blunt edges, no nodule and tendernessLien : Splenomegaly, palpable Schuffner 7Percussion: Mostly dull on entire abdomenAuscultation: normal bowel sound, 7 times per minutes

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HematologyResultsNormal ValueHaemoglobin7,5 g/dL12-14 g/dLLeukocytes3.000/L5,000 10,000/LHematocrits22 %37 43 %Trombocytes72.000/ L150,000 400,000/L Erythrocytes3,10 million/L4 5 million/L

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4 cmS7

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Athalassemia beta majorPIVFD NaCL 0,9 % 500cc macro drip, 14 dpm PRC 150 ml (start 3.30 pm)Ferriprox 3x500 mg

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FOLLOW UP (April 16th - April 18th 2015April 17th 2015. Second day of hospitalization

SPallor (+)Fatigue (+) Abdominal pain (+)Fever (-)Shortness of breath (-)

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OGeneral condition: mild illAwareness: Compos MentisBlood Pressure: 100/70 mmHgPulse: 105 x/min, regular, full, strong.Breathing rate: 25x/minTemperature: 36,7 oC (per axilla)Eye : pale conjunctiva +/+Thorax:Cardio : S1/S2, reguler, no murmur, no gallopPulmonary : vesiculer +/+, rhonchi -/-, wheezing -/-

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OAbdomen:Inspection: Convex, epigastric retraction (-), there is no a widening of the veins, no spider nevi.Palpation: Tenderness (++) on left upper quadrantHepar : Hepatomegaly, palpable three fingers (4 cm) below arcus costae, smooth and regular, with blunt edges, no nodule and tendernessLien : Splenomegaly, palpable Schuffner 7Percussion: Mostly dull on entire abdomenAuscultation: normal bowel sound, 7 times per minutes

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Athalassemia beta majorPIVFD NaCL 0,9 % 500cc macro drip, 14 dpm PRC 100 ml (start 2.30 pm)Inj. lasix 1x15 mgFerriprox 3x500 mgCheck H2TL

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FOLLOW UP (April 16th - April 18th 2015April 18th 2015. Third day of hospitalization

SPallor (-)Fatigue (+) Abdominal pain (+)Fever (-)Shortness of breath (-)

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OGeneral condition: mild illAwareness: Compos MentisBlood Pressure: 100/70 mmHgPulse: 104 x/min, regular, full, strong.Breathing rate: 24x/minTemperature: 36,5 oC (per axilla)Eye : pale conjunctiva -/-Thorax:Cardio : S1/S2, reguler, no murmur, no gallopPulmonary : vesiculer +/+, rhonchi -/-, wheezing -/-

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OAbdomen:Inspection: Convex, epigastric retraction (-), there is no a widening of the veins, no spider nevi.Palpation: Tenderness (++) on left upper quadrantHepar : Hepatomegaly, palpable three fingers (4 cm) below arcus costae, smooth and regular, with blunt edges, no nodule and tendernessLien : Splenomegaly, palpable Schuffner 7Percussion: Mostly dull on entire abdomenAuscultation: normal bowel sound, 7 times per minutes

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HematologyResultsNormal ValueHaemoglobin11,9 g/dL12-14 g/dLLeukocytes3.700/L5,000 10,000/LHematocrits36 %37 43 %Trombocytes160.000/ L150,000 400,000/L

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Athalassemia beta majorPIVFD NaCL 0,9 % 500cc macro drip, 14 dpm Ferriprox 3x500 mgGo Home

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DefinitionThalassemia is a hereditarydisorderinheritedasan autosomalrecessivethatcause a reductionor absence ofsynthesis ofoneor moreglobin chains.

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Epidemiologyin Southeast Asia3-9%.Almost found in Indonesia 50% beta thalassemiamajorcarriersinIndonesiafound3-10%

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EtiologyMutation of globin chainHerediter

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ClassificationGenetic alpha thalassemia and betha thalassemia

Clinically 1.Thalassemia major 2.Thalassemiaminor 3. Intermediate

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Diagnosis

PaleMongoloidface(faciesCooley)Can be foundjaundiceDisturbanceof growthSplenomegalyandhepatomegaly

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Facies Cooley

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Peripheral blood:Lowof HbMicrocytichypochromic,target cells,anisositosis,mikrosferosit,polikromasi,poikilositosisandtarget cells.reticulocytesincreased. SpecialInspection: HbFincreased: 20% -90%of totalHb HbElectrophoresis:HbF,HbA2

Genetic Conseling:Pedigree assesment

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TreatmentBlood transfusionironchelatingagentSplenectomyHematopoetic Stem Cell Transplantation

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Thank You.

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